Schizencephaly in LEOPARD syndrome.
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.
Liang
Jao-Shwann
JS
Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan. jao59@hotmail.com
Chien
Yin-Hsiu
YH
Hwu
Wuh-Liang
WL
Yeh
Shu-Jen
SJ
Peng
Shinn-Forng
SF
D000005:Abdomen / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D044542:LEOPARD Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009035:Mothers; D020125:Mutation, Missense; D009460:Neurologic Examination; D010641:Phenotype; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D013909:Thorax / Q000002:abnormalities
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11