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Heller syndrome in a pre-school boy. Proposed medical evaluation and hypothesized pathogenesis

Journal article
Authors M Russo
R Perry
Edwin Kolodny
Christopher Gillberg
Published in European Child and Adolescent Psychiatry
Volume 5
Issue 3
Pages 172-177
ISSN 1018-8827
Publication year 1996
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 172-177
Language en
Links www.springerlink.com/content/r743j8...
Keywords Child, Child Development Disorders, Pervasive, Diagnosis, Physiopathology, Dementia, Diagnosis, Physiopathology, Disease Progression, Humans, Male, Syndrome
Subject categories Medical and Health Sciences, Psychiatry

Abstract

The case of a 6-year-old boy who developed childhood disintegrative disorder (Heller syndrome) at the age of 4 years is presented, and specifics of the neurologic evaluation are detailed. A table is provided suggesting the complete neurologic work-up with the potential findings for children presenting with signs and symptoms of deterioration. A hypothesis for the aetiology of Heller syndrome proposes that predisposing genetic factors when combined with an environmental stress result in the deposition of amyloid and the disruption of synaptic transmission during the deterioration period. Speculation that the deterioration may be self-limited by activation of an immune response is based upon earlier findings that interleukin 1 has been shown to be involved in the breakdown of amyloid precursor protein in humans.

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