X- linked Adrenoleukodystrophy in 11 year old boy: A rare case report.

Dr Kanika Chauhan; Dr Aashutosh Sharma

Volume : IX, Issue : VIII, August - 2020

X- linked Adrenoleukodystrophy in 11 year old boy: A rare case report.

Dr Kanika Chauhan, Dr Aashutosh Sharma

Abstract :

Adrenoleukodystrophy is an X linked genetic disease, which consists of an alteration of the metabolism leading to accumulation of fatty acids of a very large chain (AGCML) associated to demyelinization of axons and adrenal insufficiency. It may initially manifest with alterations of behavior, he�, vision, speech, writing, gait, and in the more advanced cases, it results in generalized hypertension, loss of cognitive and motor functions and dysphagia. The diagnosis is confirmed by dosing the AGCML�s plasmatic levels, findings of the Magnetic Resonance and karyotype.