X-linked adrenoleukodystrophy presenting as Addison disease.
نویسندگان
چکیده
skin, starting from face since the age of 4 years. There was history of recurrent episodes of loose motions, vomiting and fever after the age of 4 years in the elder sibling for which he was hospitalized in a state of shock. Family history, perinatal history and developmental history were non-contributory. General and systemic examinations were unremarkable except for the generalized hyperpigmentation of the skin. Black colored spots were also noted on the tongue and oral mucosa.
منابع مشابه
Prenatal diagnosis of X-linked adrenoleukodystrophy associated with isolated pericardial effusion
This is the first reported case of fetal pericardial effusion in association with X-linked adrenoleukodystrophy and hypocortisolism from a nonautoimmune cause. Our hypothesis is that in experienced hands and after accurate genetic counseling, isolated pericardial effusion can constitute an indication for a severe metabolic disease.
متن کاملTwenty years of dysuria in a patient with Addison’s disease: a case report
X-linked adrenoleukodystrophy is an X-linked recessive disorder affecting approximately 1 in 21,000 males, and is estimated to be the cause of adrenal insufficiency in approximately 35% of patients with idiopathic Addison's disease. The disease is caused by defective beta-oxidation of fatty acids in peroxisomes that leads to elevated serum concentrations of very-long-chain saturated fatty acids...
متن کاملClinical aspects and adrenal functions in eleven Japanese children with X-linked adrenoleukodystrophy.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disease associated with demyelination of the central nervous system, adrenocortical insufficiency and accumulation of very long chain fatty acids. It is a clinically heterogeneous disorder ranging from a severe childhood cerebral form to an asymptomatic form. The incidence in Japan is estimated to be between 1:30,000 and 1:50,000 boys as determ...
متن کاملAdult Onset Cerebral X-Linked Adrenoleuokodystrophy in 18 Cases
Adrenoleukodystrophy (ALD) is an X-linked inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the nervous system, adrenal cortex, and testes. At least seven phenotypes can be distinguished, which are Addison only, childhood, adolescent and adult cerebral ALD, adrenomyeloneuropathy (AMN), and symptomatic or asymptomatic carriers. Children most o...
متن کاملProgression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil".
OBJECTIVES X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). Dietary treatment with a 4:1 mixture of glyceroltrioleate and glyceroltrierucate ("Lorenzo's oil") normalises plasma VLCFA concentrations, but neit...
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عنوان ژورنال:
- Indian pediatrics
دوره 42 5 شماره
صفحات -
تاریخ انتشار 2005