Adrenoleukodystrophy: two case reports

Abstract

Adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by the accumulation of saturated very long chain fatty acids (VLCFA) in plasma, various tissues of body and central nervous system. It causes demyelination and adrenocortical insuciency. High levels of very long chain fatty acids are found in tissues and body fluids, resulting from their impaired ?-oxidation in the peroxisomes. The most common form of ALD is an X-linked disorder with various presentations which is caused by mutations in the ABCD1 gene located on Xq28. The gene encodes a transmembrane transporter involved in the importation of very long chain fatty acids into peroxisomes. The phenotypic presentations are highly variable, which may lead to delayed recognition and misdiagnosis, as attention deficit and/or hyperactivity disorder in boys or multiple sclerosis in adults. The most common clinical picture is of a degenerative neurologic disorder appearing in childhood or adolescence and progressing to severe dementia and deterioration of vision, hearing, speech, and gait and death occur within a few years. Many patients have evidence of adrenal insufficiency at the time of neurologic presentation. Hydrocortisone and mineralocorticoid are necessary to treat adrenal insufficiency. High doses of hydrocortisone preoperatively and during recovery are needed for surgery and other stressful illnesses in affected individuals.Here, we described two patients with childhood onset ALD with clinical and laboratory features to illustrate the wide clinical variability of this condition.Bangladesh Med J. 2015 Sep; 44 (3): 168-171

Adrenoleukodystrophy in a Nigerian boy: A case report and review of literature

“…This may also account for seizure disorder and poor school performance in one of his male siblings. Kundu et al, 8 described six variants/ categories of ALD, with the age and clinical features of the index patient in keeping with the childhood cerebral variant, described as the most severe, rapidly progressing form.…”

“…12 ALD should be considered when a patient presents with adrenal insufficiency associated with neurological manifestation, as seen in our index case. 8 Skin and mucous membrane hyperpigmentation may occur due to elevation of proopiomelanocortin and melanocyte-stimulating hormones. 14 The usual pattern of pigmentation in adrenal insufficiency is more evident in sun-exposed regions, in areas exposed to chronic friction or pressure, in the palmar creases and in normally pigmented areas.…”

“…Abnormal MRI findings precede clinical findings in all forms of ALD. 8 The distribution of the involvement in the brain results in different clinical forms of the disease. Loes et al 17 described five different MRI patterns of ALD based on the involved anatomic location and pattern of progression.…”

“…Bone marrow transplant and immunosuppressive therapies are currently still being investigated. 8 Management with diets free of very long chain fatty acids such as spinach, cheese, red meat or use of olive oil or Lorenzo oil has been documented. However, success is better when management is instituted at the beginning or before appearance of symptoms.…”