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.

Superior mesenteric artery syndrome in a malnourished female: A rare cause of abdominal pain.

Superior mesenteric artery (SMA) syndrome is a rare cause of duodenal obstruction that can go undiagnosed, exacerbating weight loss in an already significantly malnourished patient. Diagnosis is often challenging, however, can be made by keeping a high index of suspicion based on the clinical presentation. The pathology involves a reduction in the amount of fat pad between the abdominal aorta and superior mesenteric artery (SMA) leading to a reduction of aorto-mesenteric angle and consequent compression of mostly third part of the duodenum. Management is usually conservative, however, if conservative treatment fails, surgical intervention is warranted. Our patient was a 20-year-old female who presented to us with nausea, vomiting, weight loss, and abdominal pain. The presence of obstructive symptoms along with imaging (CT scan) lead to the diagnosis of SMA syndrome and she improved with conservative management. Informed consent was obtained for this study.