Leigh syndrome is a rare inherited neurometabolic subacute necrotizing encephalopathy mostly involving brainstem and basal ganglia, seen in the early childhood. It is characterized by progressive loss of mental and movement abilities associated with abnormal muscle tone, weakness, visual loss and respiratory failure. There is no effective treatment for this condition, as such the prognosis of t...

L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom presented with writer's cramp followed by dystonia of the other hand. An elevated plasma lysine, high...

Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs d...

School learning and performance is arguably the critical centerpiece of child and adolescent development, and there can be significant temporary upset in cognitive processing after a mild traumatic brain injury, also called a concussion. This injury results in a cascade of neurochemical abnormalities, and, in the wake of this dysfunction, both physical and cognitive activities become sources of...