We describe a large inbred Syrian pedigree with an autosomal recessive neurodegenerative disorder. The clinical picture of the affected patients is oligodontia, and a degenerative neurological condition with onset around age 12, characterized by progressive ataxia and pyramidal syndrome. Abnormalities in the white matter and cortical atrophy were assessed by magnetic resonance imaging. Differential diagnosis and the possibility of a fortuitous association or the report of a hitherto unreported dento-leukoencephalopathy are discussed.

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Fetal magnetic resonance (MR) imaging was performed at 33 weeks of gestation for investigation of a posterior fossa abnormality found at ultrasound screening. Fetal movements were abolished by vecuronium injected under ultrasound guidance into the umbilical vein. MR images showed atrophy of the left cerebellar lobe with cisternal dilatation. These were confirmed postnatally by CT scan.

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.

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