Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.061
S Jean, N Arora
Case Report
Introduction: FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome (MTDPS13) is a rare, autosomal recessive mitochondrial maintenance disorder characterized by mtDNA depletion, impaired oxidative phosphorylation, lactic acidosis, and multisystem involvement. Hyperammonemia is reported in up to ∼45% of affected individuals, though severity varies. Early recognition in the neonatal period is challenging due to phenotypic heterogeneity and overlap with other causes of congenital lactic acidosis.
Case presentation
We report a preterm male infant (35+4 weeks, 1755 g) transferred on day of life 1 for profound metabolic acidosis (pH 7.02; lactate 22–24 mmol/L) with mild hyperammonemia (peak 180 µmol/L), no ketonuria, coagulopathy, and a family history of an unexplained neonatal death. Metabolic stabilization included sodium bicarbonate (bolus and continuous infusion) transitioned to oral sodium/potassium citrate, high-calorie support, and a mitochondrial cofactor regimen (thiamine, riboflavin, biotin, coenzyme Q10, L-carnitine). Dichloroacetate (DCA) was initiated under an emergency IND to target persistent hyperlactatemia and was associated with progressive lactate decline (<4 mmol/L by day 14 of therapy). Rapid trio exome sequencing identified a homozygous pathogenic variant in FBXL4, confirming MTDPS13.
Outcome
The infant achieved biochemical stabilization and full enteral feeds and was discharged home on citrate, cofactor therapy, and DCA at 8 weeks of age. Longitudinal follow-up is ongoing.
Conclusion
FBXL4-related MTDPS13 should be considered in neonates with severe lactic acidosis—even when hyperammonemia is modest and dysmorphic features are minimal. Early molecular diagnosis supports targeted metabolic management, informed prognostic counseling, and consideration of investigational therapies.
{"title":"FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome: a neonatal case report with hyperlactatemia and mild hyperammonemia","authors":"S Jean, N Arora","doi":"10.1016/j.amjms.2025.12.061","DOIUrl":"10.1016/j.amjms.2025.12.061","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome (MTDPS13) is a rare, autosomal recessive mitochondrial maintenance disorder characterized by mtDNA depletion, impaired oxidative phosphorylation, lactic acidosis, and multisystem involvement. Hyperammonemia is reported in up to ∼45% of affected individuals, though severity varies. Early recognition in the neonatal period is challenging due to phenotypic heterogeneity and overlap with other causes of congenital lactic acidosis.</div></div><div><h3>Case presentation</h3><div>We report a preterm male infant (35+4 weeks, 1755 g) transferred on day of life 1 for profound metabolic acidosis (pH 7.02; lactate 22–24 mmol/L) with mild hyperammonemia (peak 180 µmol/L), no ketonuria, coagulopathy, and a family history of an unexplained neonatal death. Metabolic stabilization included sodium bicarbonate (bolus and continuous infusion) transitioned to oral sodium/potassium citrate, high-calorie support, and a mitochondrial cofactor regimen (thiamine, riboflavin, biotin, coenzyme Q10, L-carnitine). Dichloroacetate (DCA) was initiated under an emergency IND to target persistent hyperlactatemia and was associated with progressive lactate decline (<4 mmol/L by day 14 of therapy). Rapid trio exome sequencing identified a homozygous pathogenic variant in FBXL4, confirming MTDPS13.</div></div><div><h3>Outcome</h3><div>The infant achieved biochemical stabilization and full enteral feeds and was discharged home on citrate, cofactor therapy, and DCA at 8 weeks of age. Longitudinal follow-up is ongoing.</div></div><div><h3>Conclusion</h3><div>FBXL4-related MTDPS13 should be considered in neonates with severe lactic acidosis—even when hyperammonemia is modest and dysmorphic features are minimal. Early molecular diagnosis supports targeted metabolic management, informed prognostic counseling, and consideration of investigational therapies.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S35-S36"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.062
SE Hill , CM Fowler , J Philips
Case Report
Case Report: Fibroblast Growth Factor-2 mutations are associated with multiple disease presentations including Apert Syndrome, Crouzon syndrome, and Bent Bones Dysplasia. We report a case of Bent Bones Dysplasia-FGFR2 type with a rare missense mutation leading to diminished function of the receptor with the infant surviving past the perinatal period.
This female infant was delivered at 33.6 weeks to a 44 y/o mother P5012via urgent C section secondary to preterm labor. Pregnancy was complicated by abnormal prenatal ultrasound concerning for skeletal dysplasia and polyhydramnios. Amniocentesis was performed. FISH, HIV, Chlamydia, and HBsAbg tests were negative. Apgar scores were 3 and 8 at one and five minutes, respectively. Birth weight was 2330 grams. At birth, she developed respiratory distress and was intubated with difficulty and large tongue was documented. Workup consistent with skeletal dysplasia showed shortened long bones, frontal bossing, abnormally shaped head, bowed femurs, bell shaped chest, low set ears, and high arched palate. X-rays revealed hypoplastic clavicles bilaterally and dysplastic humeri. Cardiac workup at DOL 1 revealed ejection fraction of 20-30% on echocardiogram, and no evidence of pulmonary hypertension. Genetic testing revealed a heterozygous pathogenic missense mutation in FGFR2 causing autosomal dominant Bent Bones Dysplasia (c.1141 T>G) that has only been reported once in the literature and was lethal in the perinatal period. Radiography at DOL 13 showed sutural craniosynostosis and striated appearance to the parietal bones. Radiography at 4 months showed hypoplastic radius and ulna and bowing deformity of the right femur, dysplastic appearing ribs and clavicles, and absence of ossification of the femoral head. She was discharged from the neonatal intensive care unit on DOL 174 and has had multiple re-admissions to the hospital since. She requires a gastrotomy tube due to poor oral feeding. She requires a tracheostomy tube due to tracheomalacia, bronchopulmonary dysplasia (BPD), and restrictive lung disease as a result of her malformed ribcage and neuromuscular weakness. The child is now 23 months old and will have significant medical needs throughout her life. Long-term outcomes are unknown due to the rarity of her condition.
FGFR-2 Bent Bones Dysplasia is typically lethal in the perinatal period. The current patient has a rare missense mutation in the FGFR2 gene causing Bent Bones Dysplasia. There is only one other case recorded with the same mutation in which the infant died perinatally. Our patient is currently 23 months old and living at home with significant medical care required. The presentation of BPD with this mutation has not been reported outside of the perinatal period until this case.
{"title":"Fibroblast Growth Factor Receptor-2 bent bones dysplasia: a rare presentation of FGFR-2 missense mutation in the perinatal period","authors":"SE Hill , CM Fowler , J Philips","doi":"10.1016/j.amjms.2025.12.062","DOIUrl":"10.1016/j.amjms.2025.12.062","url":null,"abstract":"<div><h3>Case Report</h3><div>Case Report: Fibroblast Growth Factor-2 mutations are associated with multiple disease presentations including Apert Syndrome, Crouzon syndrome, and Bent Bones Dysplasia. We report a case of Bent Bones Dysplasia-FGFR2 type with a rare missense mutation leading to diminished function of the receptor with the infant surviving past the perinatal period.</div><div>This female infant was delivered at 33.6 weeks to a 44 y/o mother P5012via urgent C section secondary to preterm labor. Pregnancy was complicated by abnormal prenatal ultrasound concerning for skeletal dysplasia and polyhydramnios. Amniocentesis was performed. FISH, HIV, Chlamydia, and HBsAbg tests were negative. Apgar scores were 3 and 8 at one and five minutes, respectively. Birth weight was 2330 grams. At birth, she developed respiratory distress and was intubated with difficulty and large tongue was documented. Workup consistent with skeletal dysplasia showed shortened long bones, frontal bossing, abnormally shaped head, bowed femurs, bell shaped chest, low set ears, and high arched palate. X-rays revealed hypoplastic clavicles bilaterally and dysplastic humeri. Cardiac workup at DOL 1 revealed ejection fraction of 20-30% on echocardiogram, and no evidence of pulmonary hypertension. Genetic testing revealed a heterozygous pathogenic missense mutation in FGFR2 causing autosomal dominant Bent Bones Dysplasia (c.1141 T>G) that has only been reported once in the literature and was lethal in the perinatal period. Radiography at DOL 13 showed sutural craniosynostosis and striated appearance to the parietal bones. Radiography at 4 months showed hypoplastic radius and ulna and bowing deformity of the right femur, dysplastic appearing ribs and clavicles, and absence of ossification of the femoral head. She was discharged from the neonatal intensive care unit on DOL 174 and has had multiple re-admissions to the hospital since. She requires a gastrotomy tube due to poor oral feeding. She requires a tracheostomy tube due to tracheomalacia, bronchopulmonary dysplasia (BPD), and restrictive lung disease as a result of her malformed ribcage and neuromuscular weakness. The child is now 23 months old and will have significant medical needs throughout her life. Long-term outcomes are unknown due to the rarity of her condition.</div><div>FGFR-2 Bent Bones Dysplasia is typically lethal in the perinatal period. The current patient has a rare missense mutation in the FGFR2 gene causing Bent Bones Dysplasia. There is only one other case recorded with the same mutation in which the infant died perinatally. Our patient is currently 23 months old and living at home with significant medical care required. The presentation of BPD with this mutation has not been reported outside of the perinatal period until this case.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S36-S37"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175577","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.060
VH Aguilar, J Zagory, M Carver, C Mumphrey, S Olister
Case Report
We present a male infant born at 33+4 weeks gestation to a 22-year-old G2P1 mother with classic phenylketonuria (PKU). PKU is caused by deficiency of phenylalanine hydroxylase, resulting in teratogenic elevations of maternal phenylalanine when not well controlled during pregnancy. Maternal PKU syndrome (MPKU) has been associated with congenital anomalies, including gastroschisis. Vanishing gastroschisis is a rare, severe form in which the abdominal wall closes around herniated bowel leading to perinatal midgut ischemia. Patients are born with extensive bowel loss resulting in intestinal failure and secondarily short bowel syndrome (SBS), a malabsorptive state requiring complex nutritional support. A PKU diagnosis complicates SBS as it requires specific parenteral and enteral needs that are not often used in the management of SBS. This case represents the cumulative effects of these rare diagnoses and describes the significant challenges to medical and surgical management. Prenatal imaging was concerning for gastroschisis, but at birth, the abdominal wall had closed, leading to a diagnosis of vanishing gastroschisis. Exploratory laparotomy on day of life (DOL) 1 yielded 22 cm of proximal bowel, and a jejunostomy was created. The newborn screen demonstrated elevated phenylalanine. He was transferred to a Level IV NICU for subspecialty care involving neonatology, pediatric surgery, genetics, metabolic dietician, clinical pharmacist, intestinal rehabilitation team, psychology, and social work. The infant was subsequently diagnosed with PKU based on confirmatory genetic PAH gene sequencing requiring phenylalanine-free nutrition. On DOL 70, jejunostomy reversal and gastrostomy placement were performed. Intraoperatively, the 22 cm of proximal small bowel was anastomosed to colon. Attempts to advance enteral feeds were unsuccessful, with dysmotility and severe small bowel dilation attributed to SBS adaptation. By DOL 216, progressive abdominal distension precluded enteral nutrition. At re-exploration, a new jejunostomy and liver biopsy were performed. Intraoperative findings included ascites and abdominal varices consistent with fulminant liver failure and requiring massive transfusion for disseminated intravascular coagulation. Liver biopsy showed cholestasis, fibrosis, and incomplete cirrhosis, but etiologic evaluation for liver failure was inconclusive. Given ongoing deterioration, he was transferred to a transplant center. On DOL 354, he underwent successful multivisceral transplantation of liver, small bowel, and pancreas. This case highlights the compounded effects of MPKU, vanishing gastroschisis with resultant SBS, liver failure, and PKU. Survival was achieved only through multivisceral transplantation, emphasizing the need for meticulous maternal metabolic control and the critical role of multidisciplinary, resource-intensive care in managing infants with these rare, complex conditions.
{"title":"A case of maternal phenylketonuria syndrome, short bowel syndrome secondary to vanishing gastroschisis, and liver failure in a premature infant","authors":"VH Aguilar, J Zagory, M Carver, C Mumphrey, S Olister","doi":"10.1016/j.amjms.2025.12.060","DOIUrl":"10.1016/j.amjms.2025.12.060","url":null,"abstract":"<div><h3>Case Report</h3><div>We present a male infant born at 33+4 weeks gestation to a 22-year-old G2P1 mother with classic phenylketonuria (PKU). PKU is caused by deficiency of phenylalanine hydroxylase, resulting in teratogenic elevations of maternal phenylalanine when not well controlled during pregnancy. Maternal PKU syndrome (MPKU) has been associated with congenital anomalies, including gastroschisis. Vanishing gastroschisis is a rare, severe form in which the abdominal wall closes around herniated bowel leading to perinatal midgut ischemia. Patients are born with extensive bowel loss resulting in intestinal failure and secondarily short bowel syndrome (SBS), a malabsorptive state requiring complex nutritional support. A PKU diagnosis complicates SBS as it requires specific parenteral and enteral needs that are not often used in the management of SBS. This case represents the cumulative effects of these rare diagnoses and describes the significant challenges to medical and surgical management. Prenatal imaging was concerning for gastroschisis, but at birth, the abdominal wall had closed, leading to a diagnosis of vanishing gastroschisis. Exploratory laparotomy on day of life (DOL) 1 yielded 22 cm of proximal bowel, and a jejunostomy was created. The newborn screen demonstrated elevated phenylalanine. He was transferred to a Level IV NICU for subspecialty care involving neonatology, pediatric surgery, genetics, metabolic dietician, clinical pharmacist, intestinal rehabilitation team, psychology, and social work. The infant was subsequently diagnosed with PKU based on confirmatory genetic PAH gene sequencing requiring phenylalanine-free nutrition. On DOL 70, jejunostomy reversal and gastrostomy placement were performed. Intraoperatively, the 22 cm of proximal small bowel was anastomosed to colon. Attempts to advance enteral feeds were unsuccessful, with dysmotility and severe small bowel dilation attributed to SBS adaptation. By DOL 216, progressive abdominal distension precluded enteral nutrition. At re-exploration, a new jejunostomy and liver biopsy were performed. Intraoperative findings included ascites and abdominal varices consistent with fulminant liver failure and requiring massive transfusion for disseminated intravascular coagulation. Liver biopsy showed cholestasis, fibrosis, and incomplete cirrhosis, but etiologic evaluation for liver failure was inconclusive. Given ongoing deterioration, he was transferred to a transplant center. On DOL 354, he underwent successful multivisceral transplantation of liver, small bowel, and pancreas. This case highlights the compounded effects of MPKU, vanishing gastroschisis with resultant SBS, liver failure, and PKU. Survival was achieved only through multivisceral transplantation, emphasizing the need for meticulous maternal metabolic control and the critical role of multidisciplinary, resource-intensive care in managing infants with these rare, complex conditions.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S35"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.079
H Morse, T Ferdous, R Ekdahl
Case Report
Histoplasma capsulatum is a dimorphic fungus, endemic to the central and eastern United States, transmitted via inhalation, and capable of causing disseminated disease with high morbidity and mortality in children.
We describe an 18-year-old immunocompetent male from Arkansas who presented with two weeks of chest pain, dyspnea, fatigue, excessive night sweats requiring multiple showers, and approximately 20 lb of unintentional weight loss over the past year. He had no fever or travel history. On admission, he was afebrile, tachycardic, and tachypneic with distant heart sounds. CBC and CMP were normal except for mild anemia, and CRP was elevated. Evaluation revealed a large pericardial effusion with tamponade physiology requiring immediate drainage. Initially, this was suspected to be post-viral pericardial effusion.
CT imaging demonstrated pulmonary nodules, hilar and mediastinal lymphadenopathy, splenomegaly, and multiple splenic nodules consistent with granulomas. Lymph node biopsy was negative for fungi and acid-fast bacilli, and flow cytometry for lymphoma was unremarkable. Extensive infectious and rheumatologic testing was unrevealing. Serum and urine Histoplasma antigens were negative. However, complement fixation antibody titers were elevated (yeast 1:64; mycelial 1:128, with ≥1:32 indicating strong presumptive evidence), and immunodiffusion detected both M and H bands, consistent with active histoplasmosis.
These serologic findings supported a diagnosis of disseminated histoplasmosis with pulmonary and splenic involvement, complicated by pericarditis. Pericarditis in this setting is considered an inflammatory, immune-mediated complication rather than direct fungal invasion. The patient improved after two weeks of liposomal amphotericin B and was discharged on oral itraconazole with a planned one-year course and therapeutic monitoring.
This case highlights an unusual presentation of disseminated histoplasmosis–associated pericarditis in a healthy young patient, underscoring the need for high clinical suspicion in endemic areas and confirmation with serology when antigen testing is negative.
{"title":"Cardiac presentation of disseminated histoplasmosis in an immunocompetent adolescent: a case report","authors":"H Morse, T Ferdous, R Ekdahl","doi":"10.1016/j.amjms.2025.12.079","DOIUrl":"10.1016/j.amjms.2025.12.079","url":null,"abstract":"<div><h3>Case Report</h3><div>Histoplasma capsulatum is a dimorphic fungus, endemic to the central and eastern United States, transmitted via inhalation, and capable of causing disseminated disease with high morbidity and mortality in children.</div><div>We describe an 18-year-old immunocompetent male from Arkansas who presented with two weeks of chest pain, dyspnea, fatigue, excessive night sweats requiring multiple showers, and approximately 20 lb of unintentional weight loss over the past year. He had no fever or travel history. On admission, he was afebrile, tachycardic, and tachypneic with distant heart sounds. CBC and CMP were normal except for mild anemia, and CRP was elevated. Evaluation revealed a large pericardial effusion with tamponade physiology requiring immediate drainage. Initially, this was suspected to be post-viral pericardial effusion.</div><div>CT imaging demonstrated pulmonary nodules, hilar and mediastinal lymphadenopathy, splenomegaly, and multiple splenic nodules consistent with granulomas. Lymph node biopsy was negative for fungi and acid-fast bacilli, and flow cytometry for lymphoma was unremarkable. Extensive infectious and rheumatologic testing was unrevealing. Serum and urine Histoplasma antigens were negative. However, complement fixation antibody titers were elevated (yeast 1:64; mycelial 1:128, with ≥1:32 indicating strong presumptive evidence), and immunodiffusion detected both M and H bands, consistent with active histoplasmosis.</div><div>These serologic findings supported a diagnosis of disseminated histoplasmosis with pulmonary and splenic involvement, complicated by pericarditis. Pericarditis in this setting is considered an inflammatory, immune-mediated complication rather than direct fungal invasion. The patient improved after two weeks of liposomal amphotericin B and was discharged on oral itraconazole with a planned one-year course and therapeutic monitoring.</div><div>This case highlights an unusual presentation of disseminated histoplasmosis–associated pericarditis in a healthy young patient, underscoring the need for high clinical suspicion in endemic areas and confirmation with serology when antigen testing is negative.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S47"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/S0002-9629(26)00065-0
{"title":"Disclaimer Statement","authors":"","doi":"10.1016/S0002-9629(26)00065-0","DOIUrl":"10.1016/S0002-9629(26)00065-0","url":null,"abstract":"","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page iv"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.033
S Sanne, S Sengupta, S Nguyen, LZ Chen, D Matrana
Case Report
Introduction: Guillain-Barré syndrome (GBS) affects 1-2 people per 100,000 per year. Variants include acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN). AMSAN is a rare, severe variant with a prolonged recovery time. While GBS is usually triggered by infections, there have been case reports of systemic lupus erythematosus (SLE)-associated GBS. It is estimated that the prevalence of SLE-associated GBS is 0.6-1.7%.
Case
An 18-year-old female with no prior medical history presented with facial and bilateral lower extremity swelling as well as shortness of breath for one month. She was found to have a right-sided pleural effusion status post thoracentesis, which was consistent with a transudative process. She also had a new diagnosis of SLE after having positive Smith, RNP, and chromatin antibodies as well as hypocomplementemia. She was started on steroids, hydroxychloroquine, and mycophenolate mofetil. Five days into her hospitalization, she began to have ascending weakness and dysarthria, ultimately progressing to quadriplegia and respiratory failure requiring intubation. She underwent a lumbar puncture with cerebral spinal fluid studies that revealed a glucose of 59 mg/dL, protein of 69 mg/dL, and white blood cells of 12 mm3 with a lymphocytic predominance. She was initiated on IVIG for empiric treatment of GBS. Due to minimal improvement, she also received a course of PLEX. A electromyography was consistent with the diagnosis of GBS, and steroids were quickly tapered per neurology recommendations. She had a slow neurological recovery ultimately requiring tracheostomy. After completion of IVIG and PLEX, she was able to subtlety move her fingers. She underwent sural nerve biopsy, with results currently pending.
Discussion
This case highlights the challenges of managing severe axonal GBS in newly diagnosed SLE. While most GBS cases are infection-triggered, systemic autoimmunity may exacerbate axonal injury, raising the question of whether SLE is causal or coincidental. This distinction affects management, as active SLE may warrant adding corticosteroids or other immunosuppressants to standard IVIG or plasma exchange. In this case, steroids were initially added due to concern that the GBS was related to her new SLE diagnosis; however, it was quickly tapered per neurology's recommendations due to concern it may worsen her GBS, as it was unclear how much of a role SLE was truly playing. Early recognition enables a broader workup and timely involvement of specialists, potentially improving outcomes.
{"title":"Severe GBS variant in newly diagnosed SLE","authors":"S Sanne, S Sengupta, S Nguyen, LZ Chen, D Matrana","doi":"10.1016/j.amjms.2025.12.033","DOIUrl":"10.1016/j.amjms.2025.12.033","url":null,"abstract":"<div><h3>Case Report</h3><div>Introduction: Guillain-Barré syndrome (GBS) affects 1-2 people per 100,000 per year. Variants include acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN). AMSAN is a rare, severe variant with a prolonged recovery time. While GBS is usually triggered by infections, there have been case reports of systemic lupus erythematosus (SLE)-associated GBS. It is estimated that the prevalence of SLE-associated GBS is 0.6-1.7%.</div></div><div><h3>Case</h3><div>An 18-year-old female with no prior medical history presented with facial and bilateral lower extremity swelling as well as shortness of breath for one month. She was found to have a right-sided pleural effusion status post thoracentesis, which was consistent with a transudative process. She also had a new diagnosis of SLE after having positive Smith, RNP, and chromatin antibodies as well as hypocomplementemia. She was started on steroids, hydroxychloroquine, and mycophenolate mofetil. Five days into her hospitalization, she began to have ascending weakness and dysarthria, ultimately progressing to quadriplegia and respiratory failure requiring intubation. She underwent a lumbar puncture with cerebral spinal fluid studies that revealed a glucose of 59 mg/dL, protein of 69 mg/dL, and white blood cells of 12 mm<sup>3</sup> with a lymphocytic predominance. She was initiated on IVIG for empiric treatment of GBS. Due to minimal improvement, she also received a course of PLEX. A electromyography was consistent with the diagnosis of GBS, and steroids were quickly tapered per neurology recommendations. She had a slow neurological recovery ultimately requiring tracheostomy. After completion of IVIG and PLEX, she was able to subtlety move her fingers. She underwent sural nerve biopsy, with results currently pending.</div></div><div><h3>Discussion</h3><div>This case highlights the challenges of managing severe axonal GBS in newly diagnosed SLE. While most GBS cases are infection-triggered, systemic autoimmunity may exacerbate axonal injury, raising the question of whether SLE is causal or coincidental. This distinction affects management, as active SLE may warrant adding corticosteroids or other immunosuppressants to standard IVIG or plasma exchange. In this case, steroids were initially added due to concern that the GBS was related to her new SLE diagnosis; however, it was quickly tapered per neurology's recommendations due to concern it may worsen her GBS, as it was unclear how much of a role SLE was truly playing. Early recognition enables a broader workup and timely involvement of specialists, potentially improving outcomes.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S17-S18"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.069
K Dhanyamaju, H Chaaban, NG Kassa
Case Report
Necrotizing enterocolitis (NEC) is a heterogeneous gastrointestinal disease most frequently affecting very low birth weight infants (<1500 g), though cases can occur in late-preterm and term infants at significantly lower rates. Established risk factors include prematurity, enteral feeding, and intestinal immaturity; however, genetic susceptibility is increasingly recognized as a modifier of disease severity and presentation.
We describe a late-preterm infant born at 34 weeks’ gestation (2120 g) who developed hematochezia on day of life (DoL) 2 and was diagnosed with stage II NEC. He was placed NPO and started on triple antibiotic therapy; however, he continued to deteriorate and progressed to surgical NEC. On DoL 7, he was transferred to hospital for higher level care. Echocardiography excluded congenital heart disease (CHD). Exploratory laparotomy revealed small bowel perforation and ischemia requiring resection; a second look procedure necessitated partial colectomy, leaving ∼45 cm of small intestine. The postoperative course was complicated by recurrent E. coli peritonitis, Staphylococcus epidermidis sepsis, multifocal venous thromboses, prolonged ventilatory support, and delayed enteral feeding.
Given two abnormal newborn screens concerning severe combined immunodeficiency, immunology evaluation was pursued. Invitae Primary Immunodeficiency Panel testing identified a pathogenic NOD2 mutation and a variant of uncertain significance in complement factor B (CFB). NOD2 encodes a cytosolic receptor that recognizes bacterial peptidoglycan and activates NF-κB signaling. Loss of function variants impair innate immune recognition and Paneth cell defensin secretion, driving dysbiosis and aberrant mucosal inflammation. Such mutations has been linked to Crohn's disease, particularly early-onset ileocolitis, and have been implicated experimentally in NEC pathogenesis. CFB is central to alternative complement activation, and pathogenic variants may contribute to complement dysregulation, though their role in NEC remains incompletely defined.
To our knowledge, this is the first report of NOD2 and CFB variants in an infant with trisomy 21 and NEC. Trisomy 21 is associated with immune dysregulation, including interferon hyperactivation and complement pathway alterations, and has been linked to NEC primarily in the context of CHD. This case suggests that in later gestational ages, severe NEC may be associated with or predisposed by genetic variants affecting innate immunity. Whether these findings represent isolated coincidence or a broader pathogenic mechanism remains uncertain, but they underscore the importance of incorporating genetic evaluation into severe NEC to better define disease heterogeneity and to inform future strategies for prevention and treatment.
{"title":"Unmasking the hidden risks of NEC: genetic predisposition beyond prematurity","authors":"K Dhanyamaju, H Chaaban, NG Kassa","doi":"10.1016/j.amjms.2025.12.069","DOIUrl":"10.1016/j.amjms.2025.12.069","url":null,"abstract":"<div><h3>Case Report</h3><div>Necrotizing enterocolitis (NEC) is a heterogeneous gastrointestinal disease most frequently affecting very low birth weight infants (<1500 g), though cases can occur in late-preterm and term infants at significantly lower rates. Established risk factors include prematurity, enteral feeding, and intestinal immaturity; however, genetic susceptibility is increasingly recognized as a modifier of disease severity and presentation.</div><div>We describe a late-preterm infant born at 34 weeks’ gestation (2120 g) who developed hematochezia on day of life (DoL) 2 and was diagnosed with stage II NEC. He was placed NPO and started on triple antibiotic therapy; however, he continued to deteriorate and progressed to surgical NEC. On DoL 7, he was transferred to hospital for higher level care. Echocardiography excluded congenital heart disease (CHD). Exploratory laparotomy revealed small bowel perforation and ischemia requiring resection; a second look procedure necessitated partial colectomy, leaving ∼45 cm of small intestine. The postoperative course was complicated by recurrent <em>E. coli</em> peritonitis, <em>Staphylococcus epidermidis</em> sepsis, multifocal venous thromboses, prolonged ventilatory support, and delayed enteral feeding.</div><div>Given two abnormal newborn screens concerning severe combined immunodeficiency, immunology evaluation was pursued. Invitae Primary Immunodeficiency Panel testing identified a pathogenic NOD2 mutation and a variant of uncertain significance in complement factor B (CFB). NOD2 encodes a cytosolic receptor that recognizes bacterial peptidoglycan and activates NF-κB signaling. Loss of function variants impair innate immune recognition and Paneth cell defensin secretion, driving dysbiosis and aberrant mucosal inflammation. Such mutations has been linked to Crohn's disease, particularly early-onset ileocolitis, and have been implicated experimentally in NEC pathogenesis. CFB is central to alternative complement activation, and pathogenic variants may contribute to complement dysregulation, though their role in NEC remains incompletely defined.</div><div>To our knowledge, this is the first report of NOD2 and CFB variants in an infant with trisomy 21 and NEC. Trisomy 21 is associated with immune dysregulation, including interferon hyperactivation and complement pathway alterations, and has been linked to NEC primarily in the context of CHD. This case suggests that in later gestational ages, severe NEC may be associated with or predisposed by genetic variants affecting innate immunity. Whether these findings represent isolated coincidence or a broader pathogenic mechanism remains uncertain, but they underscore the importance of incorporating genetic evaluation into severe NEC to better define disease heterogeneity and to inform future strategies for prevention and treatment.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S40-S41"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.071
RF Semakula, D Seneviratne, J Ziemba, M Nagiub
<div><h3>Case Report</h3><div>A previously healthy eleven-month-old female born at term presented to the hospital for an elective thyroglossal cystectomy and myringotomy with tube placement.</div><div>She had age-appropriate growth and development and her immunizations were up to date.</div><div>During induction of anesthesia with sevoflurane, she experienced mild laryngospasm and difficulties with oxygenation which responded to positive pressure ventilation. During the next part of the case she had acute desaturation and bradycardic arrest requiring CPR and 1 dose of epinephrine, achieved return of spontaneous circulation within two minutes. She was placed on mechanical ventilation and transferred into the intensive care unit. An initial troponin was elevated at 738.64 (20-300 pg/ml), BNP also elevated at 3481 (2-100 pg/mL). CBC showed a mild, normochromic normocytic anemia of 6.6 g/dL but otherwise unremarkable.</div><div>An emergent chest x-ray demonstrated moderate cardiomegaly; an initial echocardiogram showed minimal pericardial effusion, normal cardiac anatomy and normal ventricle size. An electrocardiogram (EKG) showed normal sinus rhythm at 121 bpm, right axis deviation, incomplete right bundle branch block and nonspecific T wave abnormality.</div><div>She was started on milrinone infusion, furosemide and was transfused with blood.</div><div>Repeat echocardiogram done eighteen hours later demonstrated worsened left ventricular systolic function (ejection fraction: 45-49%), mildly dilated left ventricle with mild hypertrophy and mild tricuspid and mitral valve regurgitation.</div><div>A diagnosis of acute myocarditis was made and an extensive workup undertaken. A cell free DNA Karius Spectrum test was positive for <em>Trypanosoma cruzi</em> at 95,996 molecules per 100 nl. A Chagas PCR of the serum detected 3,300 parasites/ml (ref: not detected) and <em>Trypanosoma cruzi</em> IgG was elevated - 3.5 (<1.0 IV). A peripheral thin film was done which showed rare <em>Trypanosoma cruzi</em> trypomastigotes (Figure).</div><div>A diagnosis of Acute Myocarditis with intraoperative cardiac arrest secondary to Chagas cardiomyopathy in the setting of mild hypoxia due to inhalational anesthesia was made. Infectious disease was consulted, and she was started on benzimidazole 5mg/kg/day for 60 days.</div><div>Additional history revealed a mild episode of fatigue and malaise with bilateral lower leg swelling about 2 weeks prior to her surgery that had resolved spontaneously. The patient lived with both parents and 3 siblings all of whom were healthy. She was born in Odem, Texas. There was no history of international travel for any members of the family and maternal <em>T.cruzi</em> serology was negative. The patient improved clinically – serial follow up showed down-trending cardiac biomarkers. She was discharged after 39 days of hospitalization.</div><div>On outpatient review she continued to be clinically well, repeat echocardiogram showed normal ven
{"title":"Be still my beating heart – an unexpected cause of cardiac arrest in an infant from South Texas","authors":"RF Semakula, D Seneviratne, J Ziemba, M Nagiub","doi":"10.1016/j.amjms.2025.12.071","DOIUrl":"10.1016/j.amjms.2025.12.071","url":null,"abstract":"<div><h3>Case Report</h3><div>A previously healthy eleven-month-old female born at term presented to the hospital for an elective thyroglossal cystectomy and myringotomy with tube placement.</div><div>She had age-appropriate growth and development and her immunizations were up to date.</div><div>During induction of anesthesia with sevoflurane, she experienced mild laryngospasm and difficulties with oxygenation which responded to positive pressure ventilation. During the next part of the case she had acute desaturation and bradycardic arrest requiring CPR and 1 dose of epinephrine, achieved return of spontaneous circulation within two minutes. She was placed on mechanical ventilation and transferred into the intensive care unit. An initial troponin was elevated at 738.64 (20-300 pg/ml), BNP also elevated at 3481 (2-100 pg/mL). CBC showed a mild, normochromic normocytic anemia of 6.6 g/dL but otherwise unremarkable.</div><div>An emergent chest x-ray demonstrated moderate cardiomegaly; an initial echocardiogram showed minimal pericardial effusion, normal cardiac anatomy and normal ventricle size. An electrocardiogram (EKG) showed normal sinus rhythm at 121 bpm, right axis deviation, incomplete right bundle branch block and nonspecific T wave abnormality.</div><div>She was started on milrinone infusion, furosemide and was transfused with blood.</div><div>Repeat echocardiogram done eighteen hours later demonstrated worsened left ventricular systolic function (ejection fraction: 45-49%), mildly dilated left ventricle with mild hypertrophy and mild tricuspid and mitral valve regurgitation.</div><div>A diagnosis of acute myocarditis was made and an extensive workup undertaken. A cell free DNA Karius Spectrum test was positive for <em>Trypanosoma cruzi</em> at 95,996 molecules per 100 nl. A Chagas PCR of the serum detected 3,300 parasites/ml (ref: not detected) and <em>Trypanosoma cruzi</em> IgG was elevated - 3.5 (<1.0 IV). A peripheral thin film was done which showed rare <em>Trypanosoma cruzi</em> trypomastigotes (Figure).</div><div>A diagnosis of Acute Myocarditis with intraoperative cardiac arrest secondary to Chagas cardiomyopathy in the setting of mild hypoxia due to inhalational anesthesia was made. Infectious disease was consulted, and she was started on benzimidazole 5mg/kg/day for 60 days.</div><div>Additional history revealed a mild episode of fatigue and malaise with bilateral lower leg swelling about 2 weeks prior to her surgery that had resolved spontaneously. The patient lived with both parents and 3 siblings all of whom were healthy. She was born in Odem, Texas. There was no history of international travel for any members of the family and maternal <em>T.cruzi</em> serology was negative. The patient improved clinically – serial follow up showed down-trending cardiac biomarkers. She was discharged after 39 days of hospitalization.</div><div>On outpatient review she continued to be clinically well, repeat echocardiogram showed normal ven","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S41-S42"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.042
B Woodbeck, S Parekh, R Kumar, Y Santharam, L Stachler, G Diaz Garcia, R Sharma, B Ribeiro
Case Report
Nontoxic diffuse megacolon is a dilation of the colon often secondary to bowel pathologies, surgery, infection, ischemia, or neurodegenerative diseases. A prior history of colonic anastomoses can predispose individuals to dilation in the setting of strictures and narrowing, which can be difficult to differentiate from dilation due to colonic inertia in neurodegenerative disease. Clinicians must rule out mechanical obstruction and maintain a high index of suspicion of colonic inertia secondary to neurodegenerative disease, which may be obscured in such presentations.
A 67-year-old male with past medical history of colorectal cancer status post hemicolectomy and sigmoid anastomosis, constipation, and Parkinson's disease, presented for progressively worsening abdominal distention and weight loss. He was afebrile and hemodynamically stable. Physical examination was remarkable for a prominently distended abdomen with hyperresonant bowel sounds throughout. Laboratory findings were at his baseline and unremarkable. A computed tomography (CT) scan of the abdomen and pelvis was obtained, demonstrating severe diffuse megacolon, measuring about 16 centimeters (A, B, C). Gastroenterology was consulted, and the patient underwent decompressive colonoscopy revealing a sigmoid anastomosis with colonic distention proximal to the anastomosis, with decompression tube left in place in the transverse colon. Five days later, he underwent repeat colonoscopy for further evaluation of the anastomotic site, showing mild superficial ulceration, but an otherwise healthy-appearing site, without evidence of obstruction. Through ruling out mechanical obstruction, he was diagnosed with colonic inertia likely secondary to his Parkinson's disease, with recommendations for surgical intervention.
This case highlights a rare presentation of megacolon with dilation proximal to the site of anastomosis. In such a presentation, mechanical obstruction needed to be ruled out first given the patient's history of prior surgeries which would predispose him to strictures and adhesions. In this particular case, colonoscopy was necessary to evaluate for mechanical obstruction, and revealed a healthy-appearing site of anastomosis, without evidence of obstruction. After ruling out obstruction, other causes of colonic megacolon were considered. Given our patient's history of Parkinson's disease, the cause of his prominent megacolon was deemed to be neuropathic. Parkinson's disease and other neurodegenerative disorders are known to be associated with severe gastric dysmotility and decreased colonic transit, which can lead to proximal colonic dilation. The challenge in this case was classifying a mechanical versus neuropathic cause of colonic dilation, with further workup needed to confirm an underlying motility disorder due to neurodegenerative disease resulting in neuropathic colonic obstruction.
{"title":"False blockage: colonic dilation from Parkinson's masquerading as obstruction","authors":"B Woodbeck, S Parekh, R Kumar, Y Santharam, L Stachler, G Diaz Garcia, R Sharma, B Ribeiro","doi":"10.1016/j.amjms.2025.12.042","DOIUrl":"10.1016/j.amjms.2025.12.042","url":null,"abstract":"<div><h3>Case Report</h3><div>Nontoxic diffuse megacolon is a dilation of the colon often secondary to bowel pathologies, surgery, infection, ischemia, or neurodegenerative diseases. A prior history of colonic anastomoses can predispose individuals to dilation in the setting of strictures and narrowing, which can be difficult to differentiate from dilation due to colonic inertia in neurodegenerative disease. Clinicians must rule out mechanical obstruction and maintain a high index of suspicion of colonic inertia secondary to neurodegenerative disease, which may be obscured in such presentations.</div><div>A 67-year-old male with past medical history of colorectal cancer status post hemicolectomy and sigmoid anastomosis, constipation, and Parkinson's disease, presented for progressively worsening abdominal distention and weight loss. He was afebrile and hemodynamically stable. Physical examination was remarkable for a prominently distended abdomen with hyperresonant bowel sounds throughout. Laboratory findings were at his baseline and unremarkable. A computed tomography (CT) scan of the abdomen and pelvis was obtained, demonstrating severe diffuse megacolon, measuring about 16 centimeters (<em>A, B, C</em>). Gastroenterology was consulted, and the patient underwent decompressive colonoscopy revealing a sigmoid anastomosis with colonic distention proximal to the anastomosis, with decompression tube left in place in the transverse colon. Five days later, he underwent repeat colonoscopy for further evaluation of the anastomotic site, showing mild superficial ulceration, but an otherwise healthy-appearing site, without evidence of obstruction. Through ruling out mechanical obstruction, he was diagnosed with colonic inertia likely secondary to his Parkinson's disease, with recommendations for surgical intervention.</div><div>This case highlights a rare presentation of megacolon with dilation proximal to the site of anastomosis. In such a presentation, mechanical obstruction needed to be ruled out first given the patient's history of prior surgeries which would predispose him to strictures and adhesions. In this particular case, colonoscopy was necessary to evaluate for mechanical obstruction, and revealed a healthy-appearing site of anastomosis, without evidence of obstruction. After ruling out obstruction, other causes of colonic megacolon were considered. Given our patient's history of Parkinson's disease, the cause of his prominent megacolon was deemed to be neuropathic. Parkinson's disease and other neurodegenerative disorders are known to be associated with severe gastric dysmotility and decreased colonic transit, which can lead to proximal colonic dilation. The challenge in this case was classifying a mechanical versus neuropathic cause of colonic dilation, with further workup needed to confirm an underlying motility disorder due to neurodegenerative disease resulting in neuropathic colonic obstruction.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Pages S22-S23"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-02-01DOI: 10.1016/j.amjms.2025.12.076
J Abes, T Landrum, Jaoude M Bou, J McGill
Case Report
With adolescent use of cannabis and THC products rising, cannaboid hyperemesis syndrome (CHS) has become an increasingly recognized complication. CHS is characterized by recurrent nausea, vomiting, and weight loss. Delayed treatment leading to nutritional deficiencies, including thiamine depletion and potential Wernicke's encephalopathy (WE). While WE is highly associated with alcoholism, nonalcoholic and pediatric patients may present with multi-systemic and atypical symptoms, complicating timely diagnosis and treatment.
A single case of a 15-year-old male is presented. This report documents his extended hospital course with pertinent clinical findings, lab results, imaging reviewed, as well as treatment outcomes.
The patient presented for persistent vomiting and weight loss. No past medical history but admitted to chronic cannabis use. Initial labs showed elevated liver enzymes and hyponatremia, treatment for SIADH was started by gastroenterology and nephrology. He developed nystagmus, unstable gait, and slowed cognitive function, although unremarkable MRI and EEG. Ophthalmology and neurology consulted as well. Given neurologic findings, vitamin testing was sent and thiamine supplementation started. Results revealed thiamine and B12 deficiencies. Supplementation led to neurologic improvement, supporting diagnosis of Wernicke-like encephalopathy secondary to CHS-induced thiamine deficiency.
This case underscores the importance of timely recognition of nutritional deficiencies in pediatric patients with cannabinoid hyperemesis syndrome (CHS). Failure to identify and treat these deficiencies early can result in multi-systemic complications, including the development of Wernicke encephalopathy (WE), a condition classically associated with alcoholism but increasingly recognized in other contexts. Our patient's presentation highlights that adolescents with recurrent vomiting and poor nutritional intake due to CHS are at particular risk for thiamine deficiency and its neurological sequelae. Pediatricians and other clinicians should maintain a high index of suspicion for WE in this population, as early intervention with vitamin supplementation can be both diagnostic and therapeutic, preventing long-term morbidity. Furthermore, as adolescent cannabis and THC use continues to rise, awareness of these potential complications is critical for both prevention and early management.
{"title":"Wernicke encephalopathy in a pediatric patient with cannabinoid hyperemesis syndrome: a case report","authors":"J Abes, T Landrum, Jaoude M Bou, J McGill","doi":"10.1016/j.amjms.2025.12.076","DOIUrl":"10.1016/j.amjms.2025.12.076","url":null,"abstract":"<div><h3>Case Report</h3><div>With adolescent use of cannabis and THC products rising, cannaboid hyperemesis syndrome (CHS) has become an increasingly recognized complication. CHS is characterized by recurrent nausea, vomiting, and weight loss. Delayed treatment leading to nutritional deficiencies, including thiamine depletion and potential Wernicke's encephalopathy (WE). While WE is highly associated with alcoholism, nonalcoholic and pediatric patients may present with multi-systemic and atypical symptoms, complicating timely diagnosis and treatment.</div><div>A single case of a 15-year-old male is presented. This report documents his extended hospital course with pertinent clinical findings, lab results, imaging reviewed, as well as treatment outcomes.</div><div>The patient presented for persistent vomiting and weight loss. No past medical history but admitted to chronic cannabis use. Initial labs showed elevated liver enzymes and hyponatremia, treatment for SIADH was started by gastroenterology and nephrology. He developed nystagmus, unstable gait, and slowed cognitive function, although unremarkable MRI and EEG. Ophthalmology and neurology consulted as well. Given neurologic findings, vitamin testing was sent and thiamine supplementation started. Results revealed thiamine and B12 deficiencies. Supplementation led to neurologic improvement, supporting diagnosis of Wernicke-like encephalopathy secondary to CHS-induced thiamine deficiency.</div><div>This case underscores the importance of timely recognition of nutritional deficiencies in pediatric patients with cannabinoid hyperemesis syndrome (CHS). Failure to identify and treat these deficiencies early can result in multi-systemic complications, including the development of Wernicke encephalopathy (WE), a condition classically associated with alcoholism but increasingly recognized in other contexts. Our patient's presentation highlights that adolescents with recurrent vomiting and poor nutritional intake due to CHS are at particular risk for thiamine deficiency and its neurological sequelae. Pediatricians and other clinicians should maintain a high index of suspicion for WE in this population, as early intervention with vitamin supplementation can be both diagnostic and therapeutic, preventing long-term morbidity. Furthermore, as adolescent cannabis and THC use continues to rise, awareness of these potential complications is critical for both prevention and early management.</div></div>","PeriodicalId":55526,"journal":{"name":"American Journal of the Medical Sciences","volume":"371 ","pages":"Page S45"},"PeriodicalIF":1.8,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146175459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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