X-linked Adrenoleukodystrophy in Three Filipino Families
DOI:
https://doi.org/10.47895/amp.v43i1.2455Keywords:
adrenoleukodystrophy
X-linked
adrenal function
carrier testing
genetic counseling
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.