Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia B Ben-Zeev 1, C Hoffman 2, D Lev 3, N Watemberg 3, G Malinger 4, N Brand 1, T Lerman-Sagie 3 1 Paediatric Neurology Unit, Sheba Medical [jmg.bmj.com]

Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation. Hands, fingers, or toes may be deformed. [owenjamesdicandilo.com]

The clinical and radiographic presentation of our patients, namely congenital microcephaly, hyperekplexia, brain malformation, and (in long term survivors) severe psychomotor retardation and cortical blindness is identical to that observed in the patients [bmcneurol.biomedcentral.com]

Multifocal independent spikes and polyspikes were eventually noted after the onset of epilepsy. Brain stem auditory and visual evoked responses (six patients) were normal. [jmg.bmj.com]

spike Multiple independent spike foci MRI Brain Microcephaly, smooth thin cerebral cortex, simplified gyral pattern, global brain atrophy, delayed myelination, hypoplastic cerebellum and pons Microcephaly, smooth thin cerebral cortex, simplified gyral [bmcneurol.biomedcentral.com]