Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

Smit, Liesbeth S.; Roofthooft, Daniella; van Ruissen, Fred; Baas, Frank; van Doorn, Pieter A.

doi:10.1016/j.nmd.2007.07.011

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Volume 18, Issue 1 , Pages 59-62, January 2008

Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

Liesbeth S. Smit
- Department of Pediatric Neurology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
- Department of Pediatrics, Division of Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
- Corresponding author. Address: Department of Pediatric Neurology and Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands. Tel.: +31 10 4636761; fax: +31 10 3636345.
Daniella Roofthooft
- Department of Pediatrics, Division of Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
Fred van Ruissen
- Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands
Frank Baas
- Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands
Pieter A. van Doorn
- Department of Neurology, Erasmus MC, Rotterdam, The Netherlands

Received 20 March 2007; received in revised form 6 June 2007; accepted 25 July 2007.

Abstract

Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia. Most of the few patients described in literature die within the first years of life. Histopathologically there are no or thin myelin sheaths. Mutations have been described in the following genes, MPZ, EGR2, PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations.

Keywords: Congenital hypomyelinating neuropathy, MPZ gene, Family case, Adult