Biomaterial Database

[Adrenoleukodystrophy (Schilder-Addison's disease): a probable case in an adult (author's transl)]. 1979

J Duprey, and J Lubetzki, and H Lemaignen

Adrenoleukodystrophy (Schilder-Addison's disease) is a sex-linked recessive syndrome usually observed in children, associating neurological disorders and Addison's disease. Its outcome is death after a few years. The authors report the case of a man in whom a spastic paraparesis and a mental deterioration appeared at the age of 30 years. A biological adrenal deficiency was found: plasma cortisol and urinary 17-hydroxy-steroids and 17-ketosteroids failed to increase after synacthen stimulation; plasma ACTH level was above normal. Since two nephews of the patient suffered from adrenoleukodystrophy, the same disease is likely in the reported patient.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D002549	Diffuse Cerebral Sclerosis of Schilder	A rare central nervous system demyelinating condition affecting children and young adults. Pathologic findings include a large, sharply defined, asymmetric focus of myelin destruction that may involve an entire lobe or cerebral hemisphere. The clinical course tends to be progressive and includes dementia, cortical blindness, cortical deafness, spastic hemiplegia, and pseudobulbar palsy. Concentric sclerosis of Balo is differentiated from diffuse cerebral sclerosis of Schilder by the pathologic finding of alternating bands of destruction and preservation of myelin in concentric rings. Alpers' Syndrome refers to a heterogeneous group of diseases that feature progressive cerebral deterioration and liver disease. (From Adams et al., Principles of Neurology, 6th ed, p914; Dev Neurosci 1991;13(4-5):267-73)	Alpers Syndrome,Balo Concentric Sclerosis,Cerebral Sclerosis, Diffuse,Encephalitis Periaxialis,Myelinoclastic Diffuse Sclerosis,Poliodystrophia Cerebri,Schilder Disease,Alpers Diffuse Degeneration of Cerebral Gray Matter with Hepatic Cirrhosis,Alpers Disease,Alpers Progressive Infantile Poliodystrophy,Alpers' Disease,Alpers' Syndrome,Alpers-Huttenlocher Syndrome,Balo's Concentric Sclerosis,Encephalitis Periaxialis Concentrica,Encephalitis Periaxialis Diffusa,Neuronal Degeneration Of Childhood With Liver Disease, Progressive,Progressive Neuronal Degeneration of Childhood with Liver Disease,Progressive Sclerosing Poliodystrophy,Schilder's Disease,Sudanophilic Cerebral Sclerosis,Alper Disease,Alper Syndrome,Alper's Disease,Alper's Syndrome,Alpers Huttenlocher Syndrome,Concentric Sclerosis, Balo,Concentric Sclerosis, Balo's,Diffuse Cerebral Scleroses,Diffuse Cerebral Sclerosis,Diffuse Scleroses, Myelinoclastic,Diffuse Sclerosis, Myelinoclastic,Disease, Alpers',Disease, Schilder,Disease, Schilder's,Myelinoclastic Diffuse Scleroses,Progressive Sclerosing Poliodystrophies,Schilders Disease,Scleroses, Balo's Concentric,Scleroses, Myelinoclastic Diffuse,Sclerosis, Diffuse Cerebral,Sclerosis, Myelinoclastic Diffuse,Syndrome, Alpers,Syndrome, Alpers-Huttenlocher
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000224	Addison Disease	An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.	Addison's Disease,Primary Adrenal Insufficiency,Primary Adrenocortical Insufficiency,Primary Hypoadrenalism,Addisons Disease,Adrenal Insufficiency, Primary,Adrenocortical Insufficiencies, Primary,Adrenocortical Insufficiency, Primary,Disease, Addison,Hypoadrenalism, Primary,Hypoadrenalisms, Primary,Insufficiencies, Primary Adrenocortical,Insufficiency, Primary Adrenocortical,Primary Adrenocortical Insufficiencies
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults