Dysmyelogenic leukodystrophy-megalobare or Alexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially, it was detected most often during infancy or early childhood. Alexander disease has historically been included among the leukodystrophies–diseases of the white matter of the brain. These diseases affect the fatty material (myelin) that forms an insulating sheath around  Read More

Metachromatic leukodystrophy-MLD is also known as Greenfield’s disease. Metachromatic leukodystrophy is a lysosomal storage disease, wherein the myelin sheath that covers most of the nerve fibers of the central and peripheral nervous systems gets damaged. 1. The deficiency of the lysosomal enzyme arylsulfatase A - ARSA or its sphingolipid activator protein B -SapB results in MLD or greenfield disease.  Read More

Infantile neuronal ceroid lipofuscinosis is a rare and fatal genetic condition that causes the death of neurons in the brain and spinal cord. It is characterized by a buildup of lipopigments, which are fats that accumulate in the cells of affected individuals. The accumulation of lipopigments causes the cells to malfunction and eventually die. The first signs of infantile neuronal ceroid lipofuscinosis appear at a  Read More

The diencephalic syndrome is a very rare neurological disorder characterized by failure to thrive, abnormal thinness (emaciation), amnesia, intense sleepiness, unusual eye position and sometimes blindness. It is normally seen in infancy or early childhood but some cases have been reported in older children and even adults. Diencephalic syndrome is usually caused by a brain tumor such as a low-grade glioma or astrocytoma.  Read More