ABSTRACT
Epilepsy with myoclonic absences is a rare seizure disorder with intellectual impairment and resistance to conventional anti-convulsants. It is essential to diagnose epilepsy with myoclonic absences earlier for a better outcome. The authors present a case report to highlight this fact.
Subject(s)
Anticonvulsants/therapeutic use , Child , Drug Therapy, Combination , Electroencephalography , Epilepsy, Tonic-Clonic/complications , Female , Humans , Mental Disorders/etiology , Triazines/therapeutic use , Valproic Acid/therapeutic useABSTRACT
Wolman disease is a rare fatal autosomal recessive disorder caused by absence of acid lipase enzyme leading to accumulation of cholesterol ester. Hepatosplenomegaly is a constant feature and occurs as early as fourth day of life. Progressive mental deterioration may occur after few weeks of onset of symptoms. Adrenal calcification seen on X-ray abdomen, USG or CT scan is the hallmark of Wolman disease. For the first time in Indian literature, the authors report a case of Wolman disease that was confirmed by acid lipase enzyme estimation.