Adrenoleukodystrophy
Incidence
X-linked inheritance (only boys). The gen is located on the distal end of the long arm of the X chromosome. It is a peroxisomal disease affecting B-oxidation of VLCFA
Clinical Characteristics
Variable course. Start between 5-8 yrs age with gradual disturbance of gait and intellect. Adrenocortical atrophy present, symptomatic or not. Early seizures are common, attacks of crying & screaming. Spastic LEs with ataxic gait. Extrapyramidal Sx may ocur. CSF proteine is high. Abnormal CT & MRI with bilat symmetric white matter atenuation with enhancement post-contrast, mainly posterior regions.. Abnormal ACTH stimulation test (absent rise of cortisol after ACTH inyection). Abnormal pigmentation of skin at times.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
VLCFA elevated in blood. Elevated ratio C26 to C22 in serum is 0.41-0.1 ( Normal values 0.048-0.004). Abn ACTH stimul test.