Journal of Medical Case Reports最新文献

Background: Primary adenocarcinoma of the base of the tongue is an exceptionally rare malignancy, accounting for only a small proportion of oropharyngeal tumors. Diagnosis is challenging due to nonspecific symptoms and overlap with more common squamous cell carcinomas and salivary-type neoplasms.

Case presentation: We report the case of a 59-year-old Moroccan woman presenting with progressive dysphagia and referred otalgia. Nasofibroscopy revealed a right-sided base of the tongue mass extending to the vallecula. Magnetic resonance imaging confirmed a 28 × 19 mm lesion with ipsilateral cervical lymphadenopathy. Biopsy demonstrated an undifferentiated invasive adenocarcinoma. Immunohistochemistry was positive for CK7 and CK20 and negative for p16. The patient underwent transmandibular resection with bilateral neck dissection, followed by adjuvant radiotherapy. At 6-month follow-up, she remained disease-free with good functional outcomes.

Methods: A narrative systematic review was conducted in PubMed, Scopus, and Google Scholar using predefined keywords. Studies reporting primary base of the tongue adenocarcinoma were included.

Results: A total of 12 publications describing comparable cases were identified. Most patients presented with dysphagia and cervical lymphadenopathy. Surgery followed by radiotherapy was the most commonly reported management strategy. Prognosis appeared favorable in low-grade salivary-type tumors and more variable in high-grade or nonsalivary primaries.

Conclusion: Primary base of the tongue adenocarcinoma is rare and requires a high index of suspicion and appropriate immunohistochemical evaluation. Multimodal management offers good oncologic control. Long-term follow-up is necessary due to uncertain metastatic potential.

Background: Tracheal vascular malformations are rare congenital lesions that often mimic pediatric acute laryngitis, causing misdiagnosis and delayed care-with greater challenges when caregivers decline angiography and evidence for such scenarios is scarce. Though sirolimus works for vascular malformations, its use in misdiagnosed pediatric tracheal cases is underreported, making this case novel for addressing angiography refusal and showing sirolimus-induced rapid symptom resolution to guide complex pediatric airway care.

Case presentation: A 6-year-old Han Chinese boy had 6 days of cough, wheezing, and dyspnea, initially misdiagnosed as acute laryngitis and transferred. On admission (day 6), he showed mild three-depression sign, laryngeal stridor, heart rate of 94 beats per minute, and respiratory rate of 42 respirations per minute. Contrast-enhanced neck computed tomography on day 7 revealed a subglottic mass causing airway compression; bronchoscopy on day 8 induced cyanosis (oxygen saturation 85%) requiring intubation, and magnetic resonance imaging on day 9 suggested vascular malformation. His parents refused digital subtraction angiography. Oral sirolimus (0.08 milligrams per square meter per day) was initiated on day 11, achieving complete lesion resolution by day 22 (with a serum sirolimus trough level of 5.16 nanograms per milliliter). The patient successfully underwent mechanical ventilation weaning on day 20, was discharged in stable condition on day 28, and maintained stable status during follow-up on days 106 and 158, with no adverse events observed.

Conclusions: This case highlights considering tracheal vascular malformation in refractory pediatric laryngeal obstruction, supports multimodal imaging for diagnosis without digital subtraction angiography, and confirms sirolimus as a safe, rapid first-line option to guide care and personalized dosing research.

Background: With an increasingly aging population, the prevalence of acromegaly in the elderly is rising. The treatment goal is defined in the guidelines as "IGF-I normalized for age;" however, in the super-elderly, where physiological interindividual variability is particularly pronounced, this goal remains uniform and may require further consideration. We present a case of well controlled acromegaly in an elderly patient, experiencing a good quality of life even with mildly elevated serum growth hormone concentration.

Case presentation: A 97-year-old Japanese woman was diagnosed with acromegaly since the age of 82 years on the basis of a typical appearance, intractable hypertension, and diabetes mellitus. Head magnetic resonance imaging showed a sellar tumor with a maximal diameter of 10 mm. Endocrinological examination revealed elevated serum concentrations of growth hormone and insulin-like growth factor-1 to 1.82 ng/mL and 997.1 ng/mL, respectively. Medical treatment with octreotide led to a decrease in serum growth hormone and insulin-like growth factor-1 concentrations to 1.45 ng/mL and 352.5 ng/mL, respectively. Since then, serum concentrations of growth hormone and insulin-like growth factor-1 have remained mildly elevated, and clinically, antihypertensive and oral hypoglycemic medications have become unnecessary. The patient maintains good physical condition and cognitive function without frailty.

Conclusion: Although the optimal range of serum growth hormone concentration has yet to be elucidated, a disease-controlled state with mild growth hormone elevation targeting insulin-like growth factor-1 level may be acceptable as a treatment goal for elderly patients with acromegaly.

Background: Rhabdomyolysis is a rare but severe complication of surgery. It usually presents as localized pain, swelling, numbness, and muscle weakness in the damaged counterpart and may be accompanied by myoglobinuria and varying degrees of elevated creatinine phosphokinase.

Case presentation: In this case, a 41-year-old woman, of Han Chinese ethnicity, who underwent laparoscopic radical hysterectomy in the lithotomy position, complained of significant bilateral lower extremity gastrocnemius pressure pain on postoperative day 1. Lower extremity vascular color Doppler ultrasonography revealed a left calf medial gastrocnemius muscle tear with possible hematoma formation. The serum creatine phosphokinase level increased to 7540.9 U/L. Magnetic resonance imaging of both calves revealed symmetrical mass-like abnormal signals with clear borders in the posterior upper calf muscles on both sides. We considered that she might have suffered from rhabdomyolysis and treated her symptomatically, and her condition gradually improved without other complications.

Conclusion: Although the incidence of intraoperative rhabdomyolysis is not high, it occasionally occurs during surgery in the lithotomy position. It may be asymptomatic or may cause severe symptoms such as AKI and multiple organ dysfunction. Therefore, prompt detection and active management are needed to avoid severe complications in clinical practice.

Background: There are limited surgical options to successfully close a refractory macular hole. One promising option is an autologous neurosensory retinal free flap transplantation. An autologous neurosensory retinal free flap transplantation places a graft of peripheral autologous retinal tissue into the macular hole and was developed to improve post-surgical outcomes. Here, clinical instrumentation and a high-resolution adaptive optics system imaged the graft and host tissue of a patient whose refractory macular hole was successfully closed with an autologous neurosensory retinal free flap transplantation.

Case presentation: A 71-year-old Hispanic female with bilateral moderate nonproliferative diabetic retinopathy (visual acuity of 20/100 in each eye) underwent an autologous neurosensory retinal free flap transplantation in the right eye only, which successfully closed a large refractory macular hole measuring 4° in diameter. Although somewhat variable, the best-corrected visual acuity improved from 20/100 to 20/70 with a subjective improvement noted by the patient. The eye was examined using (1) fundus photography and (2) clinical optical coherence tomography both presurgery and post surgery and (3) with adaptive optics-optical coherence tomography-scanning laser ophthalmoscopy post surgery. Postsurgical clinical optical coherence tomography imaging revealed restoration of the external limiting membrane within the graft. Adaptive optics-optical coherence tomography imaging provided enhanced lateral and axial resolution and showed a restored inner segment/outer segment junction within the graft. Adaptive optics-optical coherence tomography also revealed the cone outer segment tip layer in the host tissue, highlighting preservation of the microarchitecture and indicating that the host tissue was not negatively impacted by the surgery or the presence of the graft. Further, adaptive optics-scanning laser ophthalmoscopy imaging revealed photoreceptors within the graft and surrounding host tissue, indicating surgical success, graft acceptance and viable host tissue.

Conclusion: Although the exact physiological mechanisms that promote macular hole closure and intraretinal cellular changes after an autologous neurosensory retinal free flap transplantation are unknown, imaging supports the procedure as a reasonable surgical option for refractory macular hole closure. The preserved integrity of the host tissue suggests that the graft does not negatively impact the retina following the surgery. Furthermore, the improvement in the inner segment/outer segment junction and external limiting membrane noted over time within the graft are considered favorable as they relate to the structure and function of the retina.

Background: Nonketotic hyperglycinemia is a rare metabolic disorder caused by glycine accumulation due to defects in the glycine cleavage system. While severe metabolic disorders can theoretically affect fetal growth, nonketotic hyperglycinemia is not recognized as a common or typical cause of symmetric intrauterine growth retardation.

Case presentation: This case report describes a Iranian 36-week male neonate with symmetrical intrauterine growth restriction, born to consanguineous parents with a history of preeclampsia and prior fetal demise. Despite initial stabilization, the infant developed metabolic acidosis, recurrent apnea, and seizures. Laboratory findings revealed elevated glycine levels (2560 µmol/L), confirming nonketotic hyperglycinemia. Despite seizure management and antibiotic therapy, the infant deteriorated and died on day 11.

Narrative review and conclusion: Nonketotic hyperglycinemia typically presents with lethargy, hypotonia, seizures, and apnea, often fatal in the neonatal period. Glycine's dual role as an excitatory and inhibitory neurotransmitter explains the seizures and hypotonia seen in nonketotic hyperglycinemia. While acute symptoms may resolve, survivors face severe neurological impairment. Early recognition of nonketotic hyperglycinemia is critical for genetic counseling and palliative care. This case highlights the diagnostic challenge of nonketotic hyperglycinemia, particularly when presenting with intrauterine growth restriction, which can mimic other neonatal conditions such as sepsis or hypoxic-ischemic encephalopathy. Consanguinity and prior fetal loss should raise suspicion for metabolic disorders, and according to this case presentation, symmetric intrauterine growth restriction in high-risk pregnancies should prompt metabolic screening. Despite advances, nonketotic hyperglycinemia remains a devastating condition with high mortality and neurodevelopmental morbidity, emphasizing the importance of further research and early intervention strategies.

Background: Corticosteroids are commonly used to manage a multitude of conditions, ranging from autoimmune to neurological diseases, including central nervous system vasculitis and vasogenic edema from large strokes. Type A lactic acidosis and type B lactic acidosis are the two forms of lactic acidosis. Medications are the most common cause of type B lactic acidosis. An elevated lactate confers a higher mortality rate in patients. Corticosteroids are not commonly known to cause elevated lactate. The relationship between corticosteroids and lactic acidosis has only been described in critically ill patients in the intensive care unit and animal studies. There have not been any reports of this association in stable patients in the general ward setting.

Case presentation: We describe a case of an elderly Chinese woman in her 70s, clinically stable, who was diagnosed with an acute stroke and who was undergoing inpatient rehabilitation in the general ward setting. She was started on a course of a tapering dose of dexamethasone for an incidental finding of a likely large meningioma with surrounding vasogenic edema. Shortly after starting dexamethasone, lactic acidosis was discovered on the basis of low bicarbonate. After a thorough workup, it was discovered that she had type B lactic acidosis, and dexamethasone was the likely cause of the elevated lactate. She remained asymptomatic and clinically well throughout this period. The lactic acidosis resolved within 72 h of completion of dexamethasone.

Conclusion: Early identification and addressing the underlying cause of lactic acidosis is important to reduce morbidity and mortality associated with lactic acidosis, this often requires a thorough medication review for type B lactic acidosis. This case report aims to increase awareness in clinicians regarding the association between dexamethasone and lactic acidosis.

Introduction: Neurological infections often present with diverse symptoms, making coinfections particularly challenging. This study highlights an unusual case of dual coinfections caused by brucellosis and aspergillosis, emphasizing the complexity and severity of such infections.

Case presentation: A 27-year-old Syrian male patient with a history of adequately treated systemic brucellosis 3 years prior, presented with a 6-month history of progressive bilateral hearing loss, lower limb weakness, and intermittent incontinence. Neurological examination revealed bilateral sensorineural hearing loss and lower limb proprioceptive loss. Diagnostic workup confirmed neurobrucellosis via elevated Brucella immunoglobulin G antibodies in the cerebrospinal fluid, and neuroaspergillosis by cerebrospinal fluid culture growing Aspergillus fumigatus. Initial treatment for neurobrucellosis with ceftriaxone, doxycycline, rifampicin, and levofloxacin was adjusted upon fungal diagnosis to include voriconazole and trimethoprim-sulfamethoxazole. The patient subsequently underwent surgical excision of a concomitant T5-T9 arachnoid cyst. After 4 months of antimicrobial and 2 months of antifungal therapy, follow-up revealed significant clinical improvement in limb strength and incontinence, along with normalization of cerebrospinal fluid parameters.

Conclusion: This case highlights the diagnostic challenges and rarity of coexisting neurobrucellosis and Aspergillus infection, a combination not previously reported in medical literature. Both conditions are uncommon in the central nervous system and typically affect immunocompromised patients, making diagnosis difficult due to nonspecific symptoms and broad differential diagnoses. The successful treatment of this unique case underscores the need for further research into managing such unusual co-infections.

Background: Superior mesenteric artery syndrome is a rare cause of small intestine obstruction, characterized by the compression of the third segment of the duodenum between the aorta and the superior mesenteric artery due to a decreased angle between these vessels, typically attributed to a reduction in mesenteric adipose tissue.

Case presentation: A 14-year-old Middle Eastern boy presented with scurvy and failure to thrive, accompanied by constipation, intractable vomiting, abdominal pain, and severe bloating. Upper gastrointestinal endoscopy and multi-slice computed tomography confirmed the diagnosis of superior mesenteric artery syndrome. The patient underwent successful surgical intervention, and after 3 months of follow-up, demonstrated significant health improvement.

Conclusion: Superior mesenteric artery syndrome is a rare and complex condition requiring a tailored approach on the basis of the patient's clinical presentation, anatomical findings, and available resources. This case aims to increase awareness of superior mesenteric artery syndrome, particularly its association with scurvy and failure to thrive, and to highlight the effectiveness of surgical treatment in alleviating obstruction and enhancing patient outcomes.

Background: Thrombospondin type laminin G domain and epilepsy associated repeats is a protein involved in the expression of genes associated with the Notch signaling pathway that have major roles in ectodermal differentiation and neural tissue development; variants in thrombospondin type laminin G domain and epilepsy associated repeats have been shown to be associated with a variety of clinical presentations including dysplasia in the skin, nail, sweat glands, hair, or teeth and hearing abnormalities.

Case presentation: Herein we report a patient presenting with bilateral profound sensorineural hearing loss. The patient was a 6-year-old Iranian girl of Fars ethnicity, born to a consanguineous marriage, who had flat audiogram in pure tone audiometry obtained from both ears and absence of any response in auditory brain response. We examined the patient for any form of ectodermal dysplasia or malformation in teeth, skin, hair, and nail and they were in normal figuration. In this study, a novel homozygous pathogenic variant in thrombospondin type laminin G domain and epilepsy associated repeats was identified (NM_144991.3: c.668C > T, p. Ser223Leu) using whole exome sequencing.

Conclusion: Thrombospondin type laminin G domain and epilepsy associated repeats mutation presenting solely with hearing issues and lack of any ectodermal dysplasia was rare based on the review of previously reported cases. Given the high importance of these genetic disorders and the burden associated with them, the family members of these patients should pursue molecular genetic tests to identify the carriers and eliminate the risk of future occurrence of these phenotypes.