Schizencephaly in LEOPARD Syndrome - 05/08/11
⁎ 
, Yin-Hsiu Chien, MD †, Wuh-Liang Hwu, MD, PhD †, Shu-Jen Yeh, MD , Shinn-Forng Peng, MD ‡ Department of Pediatrics, Far Eastern Memorial Hospital, Taipei, Taiwan Communications should be addressed to: Dr. Liang; Department of Pediatrics, Far Eastern Memorial Hospital; No. 21 Nanya South Road, Section 2; Panchiao City, Taipei 22060, Taiwan.Abstract |
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.
Le texte complet de cet article est disponible en PDF.Plan
Vol 41 - N° 1
P. 71-73 - juillet 2009 Retour au numéro
Article précédent
- Intraneural Perineurioma of the Sciatic Nerve in Early Childhood
- John R. Østergaard, Torben Smith, Brian Stausbøl-Grøn
- Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia
- Mohammad A. Al-Muhaizea, Zuhair N. Al-Hassnan, Aziza Chedrawi
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?