Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia

Dev Med Child Neurol. 2003 Jul;45(7):489-93. doi: 10.1017/s0012162203000902.

Abstract

This paper reports three females and two males with a distinctive congenital syndrome characterized by severe congenital hypotonia, facial diplegia, jaw ankylosis, velo-pharyngeal incoordination, pyramidal tract signs, and ocular motor apraxia. Patients were followed up at ages ranging from 20 months to 16 years. All cases of this syndrome are sporadic, without dysmorphological features, chromosomal, or MRI brain abnormalities. Electrophysiological studies indicate the brainstem as the site of the neurological dysfunction. Post-mortem CNS study of one of the patients demonstrated neuronal depletion of the IV, VII, VIII, and IX cranial nerve nuclei and intact morphology of the cerebral hemispheres. A vascular accident, early in foetal life, is the most likely cause of the clinical picture. The extent of brainstem involvement and its related clinical findings distinguishes these patients from those with Moebius, Pierre Robin, or Cogan syndromes. Outcome is better than what could be anticipated during the first few months of life given the severity of symptoms. Intelligence or developmental quotients are within the normal range for their age. Facial hypomimia, feeding, and speech articulatory performance difficulties are the main disabilities observed in these patients at follow-up.

Publication types

  • Evaluation Study

MeSH terms

  • Abnormalities, Multiple / pathology
  • Abnormalities, Multiple / physiopathology
  • Adolescent
  • Apraxias / pathology
  • Apraxias / physiopathology
  • Brain Stem / diagnostic imaging
  • Brain Stem / pathology*
  • Brain Stem / physiopathology
  • Child
  • Child Welfare
  • Child, Preschool
  • Cranial Nerve Diseases / pathology
  • Cranial Nerve Diseases / physiopathology
  • Cranial Nerves / diagnostic imaging
  • Cranial Nerves / pathology
  • Cranial Nerves / physiopathology
  • Electrophysiology
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant Welfare
  • Magnetic Resonance Imaging
  • Motor Neurons / diagnostic imaging
  • Motor Neurons / pathology
  • Muscle Hypotonia / congenital
  • Muscle Hypotonia / physiopathology
  • Ocular Motility Disorders / pathology
  • Ocular Motility Disorders / physiopathology
  • Severity of Illness Index
  • Syndrome
  • Tomography, X-Ray Computed