Abstract:

A boy of 10 years was admitted in our hospital for recurrent generalized seizures, spastic tetraparesis.A gradual impairment of vision and abnormal behaviors noticed for last 3 years. His family history find an uncle (motherÂ’s brother) deceaded at the age of 6 years without a stated diagnosis, examination finding revealed generalized hyperpimentation more marked on lips and finger nails.Neurogical examination find spastic tetraparesis, deep tendon reflexes were brisk and pupils were roud and reacting to light.Fundoscopic examination note bilateral primary optic atrophy, his cardiovascular, respiratory and abdominal systems were clinically normal. All routine investigations revealed normal finding exception biochemical features (very high ACTH level, Low basal cortisol), of primary adrenal failure. MRI of the head showed bilateral white matter abnormalities in parieto-occipital regions. The diagnosis of adrenoleukodystrophy was strongly suggested from the medical history, biochemical and radiological findings of brain. The purpose of our report case is to highlight this rare disease to all, because its progress can be delayed with early diagnosis and itÂ’s incidence can be reduced by genetic counseling.

Keywords: