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

Published online by Cambridge University Press:  25 June 2003

Manuel Roig
Affiliation:
Secció de Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Margarida Gratacòs
Affiliation:
Servei de Neurofisiologia Clinica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Elida Vazquez
Affiliation:
Servei de Neurorradiologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Mireia del Toro
Affiliation:
Secció de Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
Anton Foguet
Affiliation:
Servei de Pediatria, Hospital Sant Jaume d'Olot, Girona, Spain.
Isidre Ferrer
Affiliation:
Servei de Neuropatologia, Hospital de BellvitgeSpain.
Alfons Macaya
Affiliation:
Secció de Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
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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.

Type
Original Articles
Copyright
© 2003 Mac Keith Press

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