| Schizencephaly in LEOPARD syndrome. | |
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MedLine Citation:
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PMID: 19520282 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 2-year-old boy with facial dysmorphism, multiple lentigines, and hypertrophic cardiomyopathy. Mutation analyses of the patient and his mother revealed a Y279G mutation in exon 7 of the PTPN11 gene. The presence of LEOPARD syndrome was confirmed by a genetic study and clinical phenotypes. Since age 18 months, the patient had manifested frequent seizures that were poorly controlled by multiple anticonvulsants. Neurologic examinations indicated severe developmental delay and sensorineural deafness. Brain imaging demonstrated open-lip schizencephaly in the right frontoparietal area. Central nervous system anomalies are rarely reported in this disease. To the best of our knowledge, this is the first report of LEOPARD syndrome with associated schizencephaly. Psychomotor retardation is not uncommon in LEOPARD syndrome. We advocate brain-imaging studies of patients with LEOPARD syndrome and neurologic abnormalities such as developmental delay or epilepsy. |
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Authors:
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Jao-Shwann Liang; Yin-Hsiu Chien; Wuh-Liang Hwu; Shu-Jen Yeh; Shinn-Forng Peng |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 41 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2009 Jul |
Date Detail:
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Created Date: 2009-06-12 Completed Date: 2009-08-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 71-3 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan. jao59@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abdomen
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abnormalities Brain / abnormalities, pathology Child, Preschool DNA Mutational Analysis Diagnosis, Differential Humans LEOPARD Syndrome / complications*, diagnosis, genetics Magnetic Resonance Imaging Male Malformations of Cortical Development / complications*, diagnosis, genetics Mothers Mutation, Missense Neurologic Examination Phenotype Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics Thorax / abnormalities |
| Chemical | |
Reg. No./Substance:
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EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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