Neuropediatrics 1999; 30(3): 141-145
DOI: 10.1055/s-2007-973479
Original articles

© Hippokrates Verlag GmbH Stuttgart

Autosomal Recessive Micrencephaly with Simplified Gyral Pattern, Abnormal Myelination and Arthrogryposis

L. Sztriha1 , L. I. Al-Gazali1 , E. Várady2 , H. H. Goebel3 , M. Nork4
  • 1Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University,
  • 2Departments of Pediatrics Johannes Gutenberg University, Mainz, Germany
  • 3Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany
  • 4Departments of Radiology, Tawam Hospital, Al Ain, United Arab Emirates,
Further Information

Publication History

Publication Date:
12 March 2007 (online)

Abstract

The clinical courses, neuroimaging and muscle biopsy findings of two infants born to an inbred Arab family are described. They had a syndrome of micrencephaly with simplified gyral pattern, abnormal myelin formation and arthrogryposis. Increased variation of fiber size was seen in the muscle biopsy, creatine kinase, however was normal. Large areas of muscle were replaced by adipofibrous tissue. The infants had dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. The abnormalities were suggestive of microlissencephaly probably associated with a dysgenetic process in the muscles. The syndrome showed an autosomal recessive inheritance.