X-linked adrenoleukodystrophy in three Filipino families /
X-linked adrenoleukodystrophy in three Filipino families /
Mary Anne D. Chiong [and six others]
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.
In: Acta Medica Philippina, 2009 vol 43 (1) pages: 43-48
Adrenoleukodystrophy--diagnosis
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.
In: Acta Medica Philippina, 2009 vol 43 (1) pages: 43-48
Adrenoleukodystrophy--diagnosis