title: Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.
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.
authors.affiliation: Secció de Neurologia Infantil, Hospital Universitari Vail d'Hebron, Barcelona, Spain. manroig@cs.vhebron.es
authors.forename: Manuel
authors.initials: M
authors.lastname: Roig
authors.forename: Margarida
authors.initials: M
authors.lastname: Gratacòs
authors.forename: Elida
authors.initials: E
authors.lastname: Vazquez
authors.forename: Mireia
authors.initials: M
authors.lastname: Del Toro
authors.forename: Anton
authors.initials: A
authors.lastname: Foguet
authors.forename: Isidre
authors.initials: I
authors.lastname: Ferrer
authors.forename: Alfons
authors.initials: A
authors.lastname: Macaya
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology; D000293:Adolescent; D001072:Apraxias / Q000473:pathology / Q000503:physiopathology; D001933:Brain Stem / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D002648:Child; D002669:Child Welfare; D002675:Child, Preschool; D003389:Cranial Nerve Diseases / Q000473:pathology / Q000503:physiopathology; D003391:Cranial Nerves / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D004594:Electrophysiology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007229:Infant Welfare; D008279:Magnetic Resonance Imaging; D009046:Motor Neurons / Q000000981:diagnostic imaging / Q000473:pathology; D009123:Muscle Hypotonia / Q000151:congenital / Q000503:physiopathology; D015835:Ocular Motility Disorders / Q000473:pathology / Q000503:physiopathology; D012720:Severity of Illness Index; D013577:Syndrome; D014057:Tomography, X-Ray Computed