Scoliosis Research Today is a free monthly online journal that collates and summarizes the latest research about Scoliosis, including details on treatment, exercises, surgery, symtpoms.

A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease.

Chow G, Padfield CJ

Department of Paediatric Neurology, University Hospital, Queen's Medical Centre, Nottingham, UK.

We present a male stillbirth with infantile neuroaxonal dystrophy (connatal Seitelberger disease). Following the development of polyhydramnios with an ultrasound scan showing severe distal arthrogryposis, the mother was induced at 38 weeks. A moderately macerated severely intrauterine growth restricted male stillbirth was delivered. External microcephaly, sloping forehead, simplified palmar skin creases, fixed flexion deformities of the knees, severe talipes equinovarus, spinal scoliosis, and empty scrotum were present. The brain was microcephalic with normal gyration, having a hypoplastic corpus callosum, thinned insular cortex, and enlarged lateral ventricles. There was a progressive increase in axonal spheroids going in a rostrocaudal direction in the central nervous system with the preferential distal denervation of muscles, with their motor nerves showing axonal spheroids. The presence of axonal spheroids in both the central and peripheral nervous systems and electron microscopic appearances were diagnostic of infantile neuroaxonal dystrophy occurring in utero.

Published 10 April 2008 in J Child Neurol, 23(4): 418-20.
Full-text of this article is available online (may require subscription).

© 2005-2008 Scoliosis Research Today. All Rights Reserved.