Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome.
We report on two sibs with an elongated face with reduced expression, microcephaly, strabismus, wide philtrum, mild joint laxity, thumb sign, bilateral foot drop, and fixed pes cavus, absent tendinous reflexes, an unsteady gait, quick fatigue, slightly diminished limb muscle strength more pronounced distally, abnormalities of cranial nerves III, IV, VII, and most probably VI, and slowness in ideation. Previously unknown findings referred to as the "fork sign" at the pontine level and the "bracket sign" at the mesencephalic level were documented by magnetic resonance imaging. Differential diagnoses and the possibility of a hitherto unreported syndrome are discussed.
Mégarbané
André
A
Faculté de Médecine, Unité de Génétique Médicale, Université Saint-Joseph, Beirut, Lebanon. megarbane@usj.edu.lb
Dorison
Nathalie
N
Rodriguez
Diana
D
Tamraz
Jean
J
D002648:Child; D003389:Cranial Nerve Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008831:Microcephaly; D019636:Neurodegenerative Diseases; D035781:Siblings; D013577:Syndrome