Early fatal pontocerebellar hypoplasia in premature twin sisters

Article Article scientifique Rapport de cas Early fatal pontocerebellar hypoplasia in premature twin sisters eng 2000 author Chaves Vischer Virginie Isabelle 31384 author Pizzolato Gianpaolo 527094 author Hanquinet Sylviane 133458 author Maret Alexandre 591284 author Bottani Armand 513397 author Haenggeli Charles-Antoine 123252 171-176 10.1053/ejpn.2000.0295 11008260 1090-3798 We report clinical, neuroradiological and neuropathological findings of monozygotic twin sisters born at 30 weeks' gestation, with pontocerebellar hypoplasia (PCH) similar but not identical to type 2 PCH. They presented with hypertonia, jitteriness, spontaneous and provoked myoclonic jerks (hyperekplexia), apnoeic episodes, and progressive microcephaly. They died at 7 weeks of age from respiratory failure. Brain Diseases/diagnosis/pathology Cerebellum/abnormalities/pathology Contracture/etiology Diagnosis, Differential Disease Progression Diseases in Twins Female Humans Infant, Newborn Infant, Premature, Diseases Magnetic Resonance Imaging Microcephaly/etiology Muscle Hypertonia/etiology Myoclonus/etiology Olivary Nucleus/pathology Pons/abnormalities/pathology Reflex, Abnormal Twins, Monozygotic Dewey 576.5 Dewey 616.0757 Dewey 618 135 Département de médecine génétique et développement 21D 58 Département de pédiatrie, gynécologie et obstétrique 223 62 Département de radiologie et informatique médicale 227 false 504 Radiologie neuro-diagnostique et neuro-interventionnelle en pédiatrie 842 European journal of paediatric neurology 4 4 5805d8a8-a36f-4a3c-b5a2-11c8cc080cb9 Article (Published version) Restricted 171-176.pdf 353455 application/pdf restrictedAccess Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique Faculté de médecine / Section de médecine clinique / Département de radiologie et informatique médicale

Title	Published in	Year	Views	Downloads

Early fatal pontocerebellar hypoplasia in premature twin sisters	European journal of paediatric neurology	2000	542	0
Vitamin E for ROP	The Journal of pediatrics	1999	409	0

Archive ouverte UNIGE

Maret, Alexandre