Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited organic acidemia characterized by macrocephaly and dystonia, which results in high morbidity and mortality. In resource-limited countries like Nepal, where enzyme assays are not available, MRI has a great role to play in supporting diagnosis in such situations.
View Article and Find Full Text PDFPerinatal asphyxia is one of the leading causes of hypoxic-ischemic encephalopathy. In a developing country like Nepal, home delivery is the leading cause of perinatal asphyxia. Neuroimaging remains the diagnostic modality of choice.
View Article and Find Full Text PDFOrganoaxial gastric volvulus is a rare clinical condition. We present a 55 years old man with an acute episode of melena and hematemesis with moderate epigastric pain which was unresponsive to analgesics. Initially, the patient was misdiagnosed and treated symptomatically for other gastrointestinal conditions but later contrast-enhanced abdominal CT scan revealed gastric organo-axial volvulus, which was associated with a right hiatal hernia.
View Article and Find Full Text PDFCystic echinococcosis (CE), or hydatid disease, is a parasitic infection caused by endemic to areas with considerable pastoral farming and animal husbandry. Typical presentations include hydatid cyst formation in the liver, lungs, brain, kidneys, or bones. An isolated splenic hydatid cyst is an extremely rare occurrence, accounting for only 0.
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