Case Reports in Pediatrics最新文献

We present a case of a newborn with Barakat syndrome, characterized by congenital hypoparathyroidism, severe hypocalcemia, recurrent urinary tract infections (UTIs), and congenital candidiasis, which is an atypical feature for this syndrome. The patient, born at term, exhibited dysmorphia, hearing loss, and renal dysfunction. Genetic testing revealed a novel, de novo GATA3 variant. Fluconazole, introduced to treat recurrent UTIs and congenital candidiasis, unexpectedly played a crucial role in normalizing calcium levels. This effect may be attributed to fluconazole's influence on the metabolism of vitamin D, potentially enhancing calcium absorption and reabsorption. The normalization of calcium levels in this patient emphasizes the complex interplay between antifungal therapy and calcium homeostasis, particularly in patients with congenital hypoparathyroidism. This case highlights the importance of genetic testing in diagnosing neonatal hypocalcemia and illustrates the potential for fluconazole to impact calcium metabolism in Barakat syndrome. A multidisciplinary approach, including immunological, nephrological, and otolaryngological evaluations, is essential for comprehensive long-term care.

Methadone is a synthetic opioid used to treat pain and opioid dependence. Despite its benefits, accidental ingestion of methadone in pediatric patients can lead to significant morbidity and mortality. Documented findings of acute toxicity secondary to methadone ingestion in children include leukoencephalopathy and cerebellitis. There is limited research into treatment and factors influencing clinical outcomes following methadone overdose in children. We report a 3-year-old child with severe brain injury and death following accidental ingestion of methadone. Our case is unique in that we were able to acquire a serum methadone level following ingestion, which was used to guide intervention and treatments. Using this case, we aim to contribute to the growing understanding of methadone toxicity while also advocating for the implementation of policies that protect our pediatric population.

Primary hyperparathyroidism (PHPT) is rare in children but exhibits a more dynamic course than in adults, often leading to multiorgan complications if diagnosis is delayed. This article aims to highlight diagnostic challenges of parathyroid adenomas in children and discuss associated complications from delayed diagnosis. Three boys, aged 15.5, 10, and 16 years, were retrospectively analyzed for hypercalcemia. The diagnosis was based on biochemical and hormonal tests, as well as imaging studies (ultrasound, scintigraphy, and densitometry). The mean diagnosis delay was 20 months (9-35). All boys experienced appetite loss and bone symptoms. Patient 1 was initially misdiagnosed with slipped capital femoral epiphysis (SCFE) and underwent orthopedic surgery without recognition of severe hypercalcemia. Patient 2 was misdiagnosed with vasopressin deficiency following a tibia fracture. Patient 3's symptoms were attributed to stress. All patients had parathyroid adenomas, but Patients 2 and 3 had an ectopic thymus location. Following adenoma excision, Patients 2 and 3 developed hypocalcemia, the lasting consequences of which included nephrocalcinosis and low bone mass; Patient 3 also developed hypertension and depression. Conclusions: (1) any child presenting symptoms such as loss of appetite, abdominal pain, weight loss, depression, or bone abnormalities must urgently have serum calcium levels assessed to exclude PHPT. (2) Delayed diagnosis of PHPT in children is dangerous, as it leads to irreversible organ damage, including severe bone loss, nephrocalcinosis, and hypertension. (3) Comprehensive hormonal and genetic evaluation prior to surgery is essential, along with prompt correction of hypocalcemia to minimize complications and improve treatment outcomes. (4) After parathyroid adenoma removal, intensive calcium and vitamin D supplementation is required to prevent hungry bone syndrome and support proper bone recovery. (5) Due to the significant risk of disease recurrence, children with PHPT require long-term endocrine follow-up and thorough genetic testing, enabling early detection of relapse and timely intervention.

Pontocerebellar hypoplasia Type III (PCH3) is a rare, autosomal recessive neurodegenerative disorder linked to mutations in the PCLO gene, previously reported only in Omani populations. It presents with progressive microcephaly, intractable epilepsy, optic atrophy, and severe developmental delay. Here, we report the first documented case of PCH3 in an 8-year-old Thai girl with two novel PCLO truncation mutations. The patient presented with intractable epilepsy from 2 months of age and severe global developmental delay. Whole exome sequencing identified compound heterozygous mutations in the PCLO gene: c.9018_9037del (p.Tyr3007Ter) and c.8456del (p.Ala2819GlufsTer2), both of which were inherited from heterozygous parents. These mutations are predicted to result in a loss of Piccolo protein function. This case expands the mutational spectrum of PCLO-related PCH3 and highlights the importance of advanced molecular diagnostics in understanding and managing this rare neurodegenerative disorder. Given the lack of curative therapies, early genetic diagnosis is crucial in guiding patient care and genetic counseling.

History: An 8-year-old previously healthy female presented to the emergency department after new-onset seizure activity. Three days prior, she experienced severe headaches and rash over her left lower extremity. She developed nonbilious, nonbloody emesis on the day prior to admission. The morning of presentation, she was found unresponsive, exhibiting right gaze deviation and clenched jaw concerning for seizure activity. Further history revealed recent Group A streptococcal pharyngitis, which had been treated with a 10-day regimen of amoxicillin. During this time, her mother reported decreased oral intake but normal urinary output, without dysuria or hematuria. Physical Examination: Vital signs were notable for temperature of 101.7 degrees Fahrenheit, heart rate of 100 beats per minute, blood pressure of 167/97, respiratory rate of 28, and oxygen saturation of 96% on room air. The patient was drowsy but arousable. Her neck was supple without evidence of meningismus. A skin exam revealed an erythematous, crusting rash, resembling contact dermatitis on the left lower extremity below the knee. The patient was somnolent but oriented to self and able to follow simple commands. Cranial nerves II-XII were intact bilaterally. Sensory, motor, and coordination were unremarkable. Laboratory, Imaging, and Procedures: Laboratory findings included leukocytosis, microscopic hematuria, decreased C3 and C4 levels, and positive antistreptolysin O (ASO) titers. A lumbar puncture was conducted with unremarkable cerebrospinal fluid (CSF) indices. Imaging revealed hypoattenuation in the occipital lobes on computed tomography (CT) venogram and hyperintensities in bilateral occipital lobes on magnetic resonance imaging (MRI) T2 fluid-attenuated inversion recovery (FLAIR) sequences, consistent with posterior reversible encephalopathy syndrome (PRES). Discussion: PRES in pediatric patients has been associated with a variety of conditions including hypertension (idiopathic or secondary), renal disorders, autoimmune disorders, and hematologic or oncologic conditions. However, PRES secondary to acute postinfectious glomerulonephritis (PIGN) is rare. Hematuria on the urinalysis led to obtaining complement levels, and further elucidation of history helped to narrow the differential to PIGN due to streptococcal infection with confirmatory positive ASO antibody titer. This case highlights a rare sequala of a commonly seen pediatric infection.

Case: A 2-week-old girl presented to the hospital with a 1-day history of decreased spontaneous movements of her left arm at the shoulder and elbow. There was no history of trauma, and she was otherwise well. Clinically, there was evidence of a C5/6 palsy. MRI of the left shoulder demonstrated an effusion and synovial thickening at the left glenohumeral joint. She was managed with a surgical washout of the joint and intravenous antibiotics. At a 7-month follow-up, she demonstrated a symmetrical range of movement in both shoulders with no signs of acute or chronic infection on X-ray. Conclusion: Septic arthritis of the glenohumeral joint presents insidiously in neonates and infants without typical signs of infection. Neonates and infants presenting with suspected brachial plexus palsy without a convincing history of trauma should raise suspicion of underlying joint infection and be investigated accordingly with blood tests and a low threshold for imaging of the shoulder to facilitate early diagnosis and management.

There are several causes of generalized edema in sick neonates. We describe two newborns that developed progressive and treatment-resistant generalized edema. We suggest this is due to impaired lymphatic flow from the thoracic duct as a result of a central venous catheter in the left subclavian vein.

Background: Teratoma is a tumor usually consisting of tissues derived from multiple germ layers. A congenital teratoma occurring in the region of the head and neck is rare with barely 10 reports in the global literature since 1996. Of further rarity is its mandibular location. This probably represents the first report of its kind in the world in addition to being the first one to be reported from Nepal. Case Presentation: We report a case of an 11-month-old infant with a congenital appendage over the side of the chin that was treated with surgical excision and histologically confirmed as mature teratoma. Conclusion: Congenital facial teratoma in the mandibular location is a rare event. A principle combining appropriate surgical technique and correct oncological principles keeping esthetic appearance in mind is necessary for the best outcome.

Intranasal corticosteroids (INCS) are widely used to treat allergic rhinitis and nasal obstruction. While their safety profile is generally well established, both local and systemic side effects can occur. While it is well-known that a chronic exposure to systemic glucocorticoid treatment could determine Cushing's syndrome (CS) and suppression of the hypothalamic-pituitary-adrenal (HPA) axis, there is less awareness when the administration is topical or intranasal. We report the case of an 8-year-old Caucasian girl who developed Cushingoid features following prolonged INCS treatment-initially with betamethasone and subsequently with mometasone furoate. Endocrine testing revealed undetectable baseline and after stimulation cortisol levels, suggesting a condition of adrenal insufficiency secondary to the prolonged glucocorticoid exogenous administration. Temporary hydrocortisone replacement therapy was required. Even if extremely rare, pediatricians should be aware that high-dose and long-term nasal steroid administration may cause iatrogenic CS, as well as systemic glucocorticoid treatment. Clinical features are characterized by the complications of glucocorticoid excess and by the potential life-threatening complications of adrenal insufficiency. Pediatric follow-up should be scheduled during the prolonged steroid treatment and at discontinuation, with prompt referral to a Pediatric Endocrinologist if signs and symptoms of CS (or adrenal insufficiency) are noticed.

Primary infection by the Epstein-Barr virus (EBV) is common in children, can affect multiple organs and be associated with a wide variety of clinical manifestations. We present the case of a 7-year-old female patient assessed in the emergency department for bitemporal swelling with a one-day evolution, following self-limiting odynophagia and fever 1 week earlier. Physical examination revealed a soft, bitemporal swelling, more evident on the right, painful on palpation, with no other inflammatory signs. The soft tissue ultrasound showed no alterations, and the CT scan showed thickening of the right parietotemporal epicranial soft tissues, of an imprecise nature. At a 2-week follow-up consultation, swelling had completely resolved. The serological study revealed previous contact with cytomegalovirus and positive EBV IgG and IgM with negative EBNA IgG and EA IgG, indicative of acute EBV infection. Bitemporal oedema is a very atypical and rare presentation of primary EBV infection, with very few cases previously reported. The aim of this clinical case is to draw attention to the importance of considering EBV infection in the differential diagnosis of situations like the one described.