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Congenital absence of peripheral myelin

Abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita

From the Department of Neurology, Neuromuscular Division, Johns Hopkins University School of Medicine, Baltimore, MD.

We describe a 37-week gestational age infant who presented with lethal arthrogryposis multiplex congenita due to complete absence of peripheral nervous system (PNS) myelin. Schwann cells accomplished successful developmental proliferation, migration, axonal ensheathment, basal lamina production, and subsequent cessation of proliferation, but failed in spiral lengthening and longitudinal growth. Internuclear distance was very short, resulting in marked Schwann cell hyper-cellularity. No supernumerary Schwann cells (onion bulbs) were found. No PNS myelin proteins (P₀, P₁, MAG) were detected by immunocytochemical methods, and the Schwann cells adopted many morphologic features characteristic of unmyelinated nerves. The defect appears to be an arrest in Schwann cell differentiation at the stages of mesaxon elongation and longitudinal growth.

Address correspondence to Dr. Charnas, Human Genetics Branch, NICHD, Building 10, Room 8C429, NIH, Bethesda, MD 20892. Address reprint requests to Dr. Griffin, Johns Hopkins University School of Medicine, Department of Neurology, Neuromuscular Division, 600 North Wolfe Street, Meyer 5–119, Baltimore, MD 21205.

Supported by NIH grant P01-22849. Dr. Bruce Trapp is supported in part by a Weaver Award of the National Multiple Sclerosis Society.

Presented in part at the thirty-seventh annual meeting of the American Academy of Neurology, Dallas, TX, April 1985. This manuscript was awarded an Honorable Mention in the 1987 S. Weir Mitchell Competition.

Received March 18, 1987. Accepted for publication in final form October 13, 1987.

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