Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.

BACKGROUND: Mitochondrial neurogastrointestinal encephalopathy is a rare multisystem autosomal recessive disease caused by mutations in the TYMP gene, that encodes for thymidine phosphorylase. Mitochondrial neurogastrointestinal encephalopathy is a progressive degenerative disease characterized by a distinctive tetrad of gastrointestinal dysmotility, peripheral neuropathy, ophthalmoplegia with ptosis, and asymptomatic leukoencephalopathy. It provides a diagnostic dilemma to physicians in regions like Pakistan because of a lack of genetic study availability and associated financial constraints of the population. However, with careful examination and a few basic investigations, mitochondrial neurogastrointestinal encephalopathy can be diagnosed by ruling out most of the close differentials. CASE PRESENTATION: We report the case of a 23-year-old Asian female whose chief complaints were epigastric pain, bilious emesis, weight loss for 3 months, and bilateral lower limb weakness for 20 days. All clinical signs and symptoms along with relevant investigations including nerve conduction studies, electromyography, and magnetic resonance imaging of the brain were highly suggestive of mitochondrial neurogastrointestinal encephalopathy syndrome. Because of financial constraints, genetic studies could not be performed. The patient was managed with a multidisciplinary approach involving gastroenterology, physiotherapy, and nutrition departments. Currently, therapeutic options for the disease include allogeneic hematopoietic stem cell transplant and carrier erythrocyte entrapped thymidine phosphorylase; however, these could not be provided to the patient owing to certain limitations. CONCLUSIONS: As misdiagnosis and delayed diagnosis are quite common in this disease, the prime objective of this case report is to increase the basic understanding of this disease, especially its signs and symptoms, and address the limitations regarding the diagnostic investigations and management of patients with mitochondrial neurogastrointestinal encephalopathy.

Post-COVID Opsoclonus Myoclonus Syndrome: A Case Report From Pakistan.

Background: Coronavirus disease-2019 (COVID-19), caused by the severe acute respiratory distress syndrome-coronavirus-2 (SARS-CoV-2), is primarily a respiratory infection but has been recently associated with a variety of neurological symptoms. We present herewith a COVID-19 case manifesting as opsoclonus-myoclonus syndrome (OMS), a rare neurological disorder. Case Presentation: A 63-year-old male diagnosed with COVID-19 infection developed behavioral changes, confusion, and insomnia followed by reduced mobility and abnormal eye movements within 48 h of recovery from respiratory symptoms associated with COVID-19. On examination, he had rapid, chaotic, involuntary saccadic, multidirectional eye movements (opsoclonus), and limb myoclonus together with truncal ataxia. CSF analysis, MRI of the brain, and screening for anti-neuronal and encephalitis related antibodies were negative. Extensive testing revealed no underlying malignancy. The patient was successfully treated with intravenous immunoglobulin (IVIG) with complete resolution of symptoms within 4 weeks of treatment. Conclusion: COVID-19 infection can be associated with the manifestation of opsoclonus myoclonus syndrome, a rare neurological disorder that can be treated with IVIG if not responsive to corticosteroids.

Barr humbug: acute cerebellar ataxia due to Epstein-Barr virus.

Epstein-Barr virus (EBV) infection is associated with neurological sequellae, but rarely there is acute cerebellar ataxia (ACA) in an adult. We present a novel case of a 26-year-old man, who presented with ACA. He had normal MRI and CSF analysis. Serum testing confirmed active EBV. A course of oral prednisolone 1 mg/kg for 4 weeks, with a subsequent taper was started. He made a full recovery within 3 weeks of presentation.

Myasthenia gravis as a 'stroke mimic'--it's all in the history.

An 85-year-old man presented to hospital as an emergency having difficulties with swallowing and speech. In the emergency department, he was assessed as having acute onset dysphagia and dysarthria in keeping with an acute stroke. Subsequently, it became apparent that although the symptoms were indeed of relatively acute onset, there was a clear description by the patient of fatigability and diurnal variation, prompting a working clinical diagnosis of myasthenia gravis. The patient followed a turbulent clinical course, and interpretation of investigation results proved not to be straightforward in the acute setting. Myasthenia gravis is an uncommon disorder but it is more common in the elderly. This case provides key learning points, particularly highlighting the value of prompt, accurate clinical assessment and the importance of adhering to the clinical diagnostic formulation.