X-linked Adrenoleukodystrophy in Three Filipino Families

Abstract

We report five Filipino male children from three families with the

childhood cerebral form of adrenoleukodystrophy. All patients

demonstrated deterioration in mental and developmental skills with

onset of symptoms ranging from 6 to 9 years of age. Diagnosis was

confirmed by elevated very long chain fatty acid (VLCFA) levels and

characteristic magnetic resonance imaging (MRI) findings. Carrier

testing was carried out. Genetic counseling was performed on families,

thereby aiding them to cope and accept the diagnosis.