Journal of Medical Case Reports最新文献

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.

Background: Heterotopic cervical pregnancy is an extremely rare condition, defined by the simultaneous presence of an intrauterine gestation and an ectopic gestation located in the uterine cervix. Cervical pregnancies are associated with a high risk of severe hemorrhage owing to the close proximity of the trophoblastic tissue to the uterine blood vessels. Early diagnosis is often challenging, as clinical symptoms are frequently absent or nonspecific. Currently there are no standardized management guidelines for coexisting intrauterine and cervical pregnancies; treatment decisions depend largely on the patient's desire to continue the intrauterine pregnancy and the clinical expertise of the healthcare team.

Case presentation: We report the case of a 31-year-old primigravida of Sri Lankan ethnicity with a spontaneous heterotopic pregnancy, who presented at 6 + 5 weeks of gestation with vaginal bleeding. Her medical and surgical history were unremarkable. Transvaginal ultrasound revealed a viable intrauterine pregnancy coexisting with a viable cervical ectopic pregnancy. Given the acute bleeding and the patient's wish to preserve the intrauterine pregnancy, surgical management was chosen. Ultrasound-guided cervical curettage with preemptive bilateral cervical suturing was performed, achieving an effective hemostasis. At 16 weeks, a Shirodkar cerclage was placed due to cervical shortening. The pregnancy progressed without complications, and a healthy newborn was delivered via cesarean section at 38 + 6 weeks of gestation.

Conclusion: Given the rarity and potentially life-threatening nature of heterotopic cervical pregnancy, the dissemination of clinical experiences is essential to improve diagnostic accuracy and inform management strategies. This case highlights the importance of early recognition and tailored surgical intervention. Ultrasound-guided evacuation with targeted cervical suturing effectively controlled the hemorrhage while preserving the intrauterine pregnancy, whilst second-trimester cerclage addressed cervical shortening. Our experience supports a conservative and individualized approach guided by patient preferences, clinical stability, and multidisciplinary expertise as a viable strategy for optimizing maternal and fetal outcomes in this rare and high-risk condition.

Background: This report presents a rare case of pneumorrhachis, pneumothorax, and pneumocephalus in a patient with multiple traumatic injuries following a gunshot wound to the chest. Pneumorrhachis, the presence of air within the spinal canal, can arise from iatrogenic, nontraumatic, or traumatic causes and is classified as extradural or intradural, the latter often linked to severe trauma. Pneumothorax, air in the pleural space, may impair ventilation and presents as simple, communicating, or tension types, with causes including trauma, iatrogenesis, or spontaneous events. Pneumocephalus, an accumulation of gas within the neurocranium, typically resolves spontaneously but rarely occurs in combination with pneumothorax after thoracic gunshot trauma. This report aims to elucidate the potential pathophysiological mechanisms of air migration and highlight the multidisciplinary management challenges inherent in this rare traumatic triad.

Case presentation: A 45-year-old Syrian male presented with multiple traumatic injuries following a gunshot wound to the chest. Initial assessment revealed respiratory distress, hemodynamic instability, and decreased oxygen saturation. Clinical evaluation and imaging confirmed a tension pneumothorax, which was treated with an emergent chest tube placement. Subsequent computed tomography scans showed extensive pneumocephalus, with air pockets in the intracranial cavity, and pneumorrhachis, with air tracking along the spinal canal. Both findings were attributed to the high-pressure air leakage through fascial planes and anatomical pathways caused by the penetrating trauma. The patient was managed with supplemental oxygen, careful neurological monitoring, and supportive care. Despite the severe injuries, his condition stabilized, and no surgical intervention was required for the pneumorrhachis or pneumocephalus, which resolved spontaneously over time. However, the patient's clinical course was complicated by persistent infection and respiratory failure, and he ultimately succumbed to his injuries 3 months after admission.

Conclusion: The coexistence of pneumorrhachis, pneumothorax, and pneumocephalus following chest gunshot trauma is exceedingly rare. This case underscores the importance of early recognition, prompt imaging, and multidisciplinary care in managing such complex injuries, contributing valuable insights to the limited literature on these conditions.

Background: Peripherally inserted central catheter lines are increasingly common as medical innervation advances. Peripherally inserted central catheter lines are generally well tolerated with few complications, the most common being pain, bleeding, line dislodgement or blockage. However, there are more serious complications such as line sepsis.

Case presentation: We present a case of a 32-year-old Indian woman with recurrent fever in the context of sterile peripherally inserted central catheter lines.

Conclusion: Noninfectious fevers can occur in patients with peripherally inserted central catheter lines with the underlying mechanism not being certain.