| Adreno-leukodystrophy with microphthalmia. A condition marked by general organ hypoplasia. | |
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MedLine Citation:
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PMID: 1222325 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A 5-6/12 year old male child who was noted to have neurological impairment at birth, eventually died with widespread neurological disease. Pathological findings were compatible with adreno-leukodystrophy, but also showed microphthalmia and diffuse organ hypoplasia. A review of the clinical and pathological characteristics of adreno-leukodystrophy of previous cases and the current case suggests that the range of the disease spectrum may well involve most organs of the body. The possibility of an inherited membrane deficit is entertained. |
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Authors:
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B I Machanic; W J Brown |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Bulletin of the Los Angeles neurological societies Volume: 40 ISSN: 0024-659X ISO Abbreviation: Bull Los Angeles Neurol Soc Publication Date: 1975 Jul |
Date Detail:
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Created Date: 1976-07-06 Completed Date: 1976-07-06 Revised Date: 2009-11-11 |
Medline Journal Info:
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Nlm Unique ID: 0064572 Medline TA: Bull Los Angeles Neurol Soc Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 116-23 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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pathology* Adrenal Glands / abnormalities* Brain / pathology* Child, Preschool Diffuse Cerebral Sclerosis of Schilder / pathology* Humans Male Microphthalmos / pathology* Syndrome |
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