Cerebellar atrophy in Schimke-immuno-osseous dysplasia
| Autor: | Michael Knauth, Cornelius F. Boerkoel, Anibh M. Das, Johanna Marietta Clewing, Hans Hartmann, Thomas Lücke, Frank Donnerstag, Hartmut Becker |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Cerebellum Nephrotic Syndrome Adolescent Brain Ischemia White matter 03 medical and health sciences 0302 clinical medicine Atrophy Cerebellar hemisphere Genetics medicine Humans Child Genetics (clinical) 030304 developmental biology Bone Diseases Developmental 0303 health sciences business.industry Schimke immuno-osseous dysplasia DNA Helicases Immunologic Deficiency Syndromes Anatomy medicine.disease 3. Good health medicine.anatomical_structure nervous system Dysplasia Cerebellar vermis Female Cerebellar atrophy business 030217 neurology & neurosurgery |
| Zdroj: | American Journal of Medical Genetics Part A. :2040-2045 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.31878 |
| Popis: | Schimke-immuno-osseous dysplasia is an autosomal-recessive multisystem disorder with the prominent clinical features disproportionate growth failure, progressive renal failure, and T-cell immunodeficiency. Neurological symptoms caused by transient ischemic attacks (TIAs) and strokes are a typical clinical finding in severe SIOD. Cerebral ischemia and white matter changes, moyamoya phenomena and absence of a cerebellar hemisphere and partial absence of the cerebellar vermis have been described in patients with severe SIOD. We present three SIOD patients with atrophy of the caudal parts of the cerebellar vermis (posterior lobule) and of the cerebellar hemispheres. We hypothesize that these cerebellar abnormalities are a continuum of the ongoing vascular disease in severe SIOD. |
| Databáze: | OpenAIRE |
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