RESUMEN
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.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Niño , Quimioterapia Combinada , Electroencefalografía , Epilepsia Tónico-Clónica/complicaciones , Femenino , Humanos , Trastornos Mentales/etiología , Triazinas/uso terapéutico , Ácido Valproico/uso terapéuticoRESUMEN
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.