1/21. X-linked adrenoleukodystrophy: spinocerebellar variant.The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebellar degeneration. There are very few reported cases of selective predominant white matter disease of the cerebellum in these patients. We report a patient with a rare variant of adult onset ALD who was previously diagnosed as spinocerebellar ataxia. He was a 24-year-old male who had delayed developmental milestones, developed signs of spinocerebellar degeneration (SCD) after 10 years of Addison's disease. Serial magnetic resonance imaging (MRI), revealed cerebellar and pontine white matter disease but sparing the cerebral cortex and supratentorial white matter. His diagnosis of X-ALD was subsequently confirmed by the elevated serum very long chain fatty acids. This patient illustrates the unusual clinical presentation and imaging features of X-ALD and the importance of considering X-ALD in the clinical context of spinocerebellar degeneration. Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation.- - - - - - - - - - ranking = 1keywords = adrenoleukodystrophy (Clic here for more details about this article) |
2/21. Focal segmental glomerular sclerosis in two patients with Addison's disease: any more than fortuitous development of glomerular disease?Adjustment of the mineralocorticoid activity under substitution therapy is of primary importance in Addison's disease. We report the clinical and biological conditions of 2 patients with Addison's disease who developed nephrotic proteinuria during their deficient mineralocorticoid state. Renal biopsy was performed and the specimens processed using conventional histochemistry, congo red staining, and indirect immunofluorescence. The renal biopsy specimens showed focal segmental glomerular sclerosis and nodular deposits of IgM and C3. Negative for congo red staining. serum complement, circulating immune complexes, and anti-dna and hepatitis b and C and human immunodeficiency virus antibodies were all normal or negative. Absence of vesicoureteral reflux was assessed by X-ray studies. Our observations suggest that deficiency in mineralocorticoid substitution therapy inducing a status of hyperreninemia could play a role in the development of focal segmental glomerulosclerosis in patients with Addison's disease.- - - - - - - - - - ranking = 7.925994710546E-8keywords = complex (Clic here for more details about this article) |
3/21. Unusual skin pigmentation in a patient with human immunodeficiency virus (hiv) infection.Diffuse addisonian hyperpigmentation in a male patient with acquired immunodeficiency syndrome related complex (ARC) is described. The etiology of pigmentation in this patient remains obscure but is most probably related to the H.I.V. infection. Other causes of addisonian hyperpigmentation are considered less likely.- - - - - - - - - - ranking = 7.925994710546E-8keywords = complex (Clic here for more details about this article) |
4/21. adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing.Childhood cerebral X-linked adrenoleukodystrophy (X-ALD) is a rare neurodegenerative disease typically presenting from age 4 to 8 years in males. We report 2 cases of X-ALD in boys. The diagnosis of Addison's disease was made before the development of neurological symptoms in both cases. The first patient had hyperpigmentation of the lips and an adrenocorticotropic hormone (ACTH) level higher than 1250 pg/mL when he was 7 years 3 months old. The initial diagnosis was Addison's disease, but X-ALD was diagnosed at age 8 years 8 months, when his motor and mental function deteriorated. The second boy had hypoglycemia, skin pigmentation, and an ACTH level of 1086 pg/mL when he was 4 years 6 months old, but the diagnosis was changed from Addison's disease to X-ALD owing to deterioration in speech at age 7 years. Since both bone marrow transplantation and Lorenzo's oil are beneficial only at the early stage of disease and idiopathic Addison's disease is very rare in children, it is important to test for very-long-chain fatty acids in boys suspected of having Addison's disease.- - - - - - - - - - ranking = 0.2keywords = adrenoleukodystrophy (Clic here for more details about this article) |
5/21. Adrenomyeloneuropathy as a cause of primary adrenal insufficiency and spastic paraparesis.Adrenomyeloneuropathy is a varient of adrenoleukodystrophy, both of which are rare inherited disorders of peroxisomes characterized by the accumulation of very-long-chain fatty acids in plasma, the central and peripheral nervous systems, adrenal glands and testes, which leads to dysfunction of these organs and systems. In this article, we describe an illustrative case of adrenomyeloneuropathy and discuss the clinical presentation, diagnosis and management of the 2 disorders.- - - - - - - - - - ranking = 0.39044067783383keywords = adrenoleukodystrophy, adrenomyeloneuropathy (Clic here for more details about this article) |
6/21. Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy.We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement.- - - - - - - - - - ranking = 1.2keywords = adrenoleukodystrophy (Clic here for more details about this article) |
7/21. Adrenomyeloneuropathy in patients with 'Addison's disease': genetic case analysis.OBJECTIVE: To review the clinical presentations and diagnostic issues in adrenomyeloneuropathy and adrenoleukodystrophy, which are different presentations of the same single gene disorder. DESIGN: observational study. PARTICIPANTS: Three generations of an affected kindred. INTERVENTION: None. MAIN OUTCOME MEASURES: Neurological features suggestive of adrenoleukodystrophy or adrenomyeloneuropathy. Measurement of very long chain fatty acids. Molecular analysis of the adrenoleukodystrophy gene. RESULTS: Three adults presented with adrenomyeloneuropathy and two children with adrenoleukodystrophy. Circulating concentrations of long chain fatty acids were raised consistent with clinical features. A mutation in exon 6 of the adrenoleukodystrophy gene (P543L) was identified. This had not previously been identified but has subsequently been reported by other groups. CONCLUSIONS: Adrenomyeloneuropathy should be considered in the differential diagnosis in male patients presenting with adrenal failure. early diagnosis allows genetic counselling in such families and may become more important as treatment strategies evolve.- - - - - - - - - - ranking = 1.5713220335015keywords = adrenoleukodystrophy, adrenomyeloneuropathy (Clic here for more details about this article) |
8/21. asthma as the first presenting symptom of complex glycerol kinase deficiency.Two patients presenting with asthma as the first clinical symptom of a mild form of Addison crisis were found to have complex glycerol kinase deficiency (CGKD). They had been treated with bronchodilators prior to the exact diagnosis. asthma may appear in a mild form of Addison crisis in a patient with CGKD. Pediatricians should be aware of this unusual presentation of CGKD.- - - - - - - - - - ranking = 3.962997355273E-7keywords = complex (Clic here for more details about this article) |
9/21. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.We have studied four unrelated males with a heritable disorder that we term adrenomyeloneuropathy; limited clinical information is available on a fifth case. All had adrenal insufficiency beginning in childhood and developed progressive spastic paraparesis in the third decade. hypogonadism of variable severity was present in all four cases appropriately examined. Neurologic features included peripheral neuropathy, impotence, and sphincter disturbances. Late manifestations were cerebellar dysfunction in one case and dementia and hemiparesis in another. A family history of adrenal disease or spastic paraparesis was present in two cases and absent in one; in the other two, no family history was available. Although males are predominantly affected, the mode of inheritance is uncertain. Adrenomyeloneuropathy probably represents a clinically and genetically distinct variant of childhood adrenoleukodystrophy.- - - - - - - - - - ranking = 1.1904406778338keywords = adrenoleukodystrophy, adrenomyeloneuropathy (Clic here for more details about this article) |
10/21. Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. II. General pathologic, neuropathologic, and biochemical aspects.Histopathologic features were studied in postmortem examination of two men with adrenomyeloneuropathy, and biochemical studies were performed on one of these individuals. The histopathologic picture of one case included dying-back features in the nervous system and lamellar cytoplasmic inclusions in the brain, adrenal gland, and testis similar to those in adrenoleukodystrophy. Biochemical studies of the cerebral white matter of this individual revealed increased amounts of long-chain saturated fatty acids in cholesterol esters, an abnormality characteristic of adrenoleukodystrophy. Despite differences in clinical presentation and neuropathology, adrenomyeloneuropathy probably represents a distinct variant of adrenoleukodystrophy.- - - - - - - - - - ranking = 1.7808813556677keywords = adrenoleukodystrophy, adrenomyeloneuropathy (Clic here for more details about this article) |
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