HELLER SYNDROME IN A PRESCHOOL BOY - PROPOSED MEDICAL EVALUATION AND HYPOTHESIZED PATHOGENESIS

The case of a 6-year-old boy who developed childhood disintegrative di sorder (Heller syndrome) at the age of 4 years is presented, and speci fics of the neurologic evaluation are detailed. A table is provided su ggesting the complete neurologic work-up with the potential findings f or children presenting with signs and symptoms of deterioration. A hyp othesis for the aetiology of Heller syndrome proposes that predisposin g 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 m ay be self-limited by activation of an immune response is based upon e arlier findings that interleukin 1 has been shown to be involved in th e breakdown of amyloid precursor protein in humans.