MR of adrenoleukodystrophy: Histopathologic correlations

Adrenoleukodystrophy (ALD) is a hereditary disorder that involves the adrenal cortex and the white matter of the CNS. The most common variant of the disease has an X-linked recessive mode of inheritance and occurs in childhood. Clinical symptoms involve behavioral disturbances, mental deterioration, motor dysfunction (caused by a spastic syndrome and to a lesser extent by cerebellar ataxia), dysarthria, dysphagia, decreased hearing, decreased vision, and epileptic seizures. The disease leads to death, usually within several years after the initial manifestations. Features of adrenal insufficiency may precede, concur, or follow the neurologic symptoms. The diagnosis of ALD can be facilitated by showing adrenocortical dysfunction and an increase of very-long-chain fatty acids in serum and cultured skin fibroblasts showing involvement of the cerebral white matter is helpful in making the diagnosis, but is often inconclusive. MR has been shown to be more sensitive and specific in this respect. In this case report, the ability of MR to reflect the histopathologic abnormalities is illustrated in two ALD patients.