| Congenital nephrotic syndrome with microcephaly: report of a case. | |
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MedLine Citation:
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PMID: 7858445 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital nephrotic syndrome is an uncommon disease with variable etiology, course and prognosis; its association with microcephaly is even more unusual. A case is reported here of congenital nephrotic syndrome because of focal glomerulosclerosis in a three-month-old female infant with microcephaly since birth. There were no known renal diseases nor hereditary disorders in her family. The serologic tests for syphilis, toxoplasmosis, rubella, and cytomegalovirus infections were negative. Magnetic resonance imaging of the brain showed diffuse atrophic change of the cerebral hemispheres and brain stem with a remarkable increase of extracerebral space. The infant died at the age of four months without any clinical cause other than congenital nephrotic syndrome. These findings, including congenital nephrotic syndrome and microcephaly accompanied by various other clinical symptoms, have been described as a clinical entity with an autosomal recessive mode of inheritance. |
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Authors:
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C H Yu; W S Tsai; P J Wang; Y K Tsau; G C Tseng; T R Wang |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the Formosan Medical Association = Taiwan yi zhi Volume: 93 ISSN: 0929-6646 ISO Abbreviation: J. Formos. Med. Assoc. Publication Date: 1994 Jun |
Date Detail:
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Created Date: 1995-03-21 Completed Date: 1995-03-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9214933 Medline TA: J Formos Med Assoc Country: TAIWAN |
Other Details:
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Languages: eng Pagination: 528-30 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Atrophy Brain / pathology Female Genes, Recessive Humans Infant Microcephaly / complications* Nephrotic Syndrome / complications*, congenital* |
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