Document Detail


Schizencephaly in LEOPARD syndrome.
MedLine Citation:
PMID:  19520282     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Jao-Shwann Liang; Yin-Hsiu Chien; Wuh-Liang Hwu; Shu-Jen Yeh; Shinn-Forng Peng
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  41     ISSN:  1873-5150     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-06-12     Completed Date:  2009-08-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  71-3     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan. jao59@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Abdomen / 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:
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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