Pontocerebellar hypoplasia type 2 and Reye-like syndrome.
Pontocerebellar hypoplasia is an autosomal recessive syndrome with onset during the fetal period. Two subtypes of pontocerebellar hypoplasia have been described on the basis of clinical and neuropathologic criteria. Pontocerebellar hypoplasia type 2 is characterized by progressive microcephaly, early onset of extrapyramidal dyskinesia, and near absence of motor and cognitive development, without signs of either spinal or peripheral involvement. We report a clinical observation of a patient with pontocerebellar hypoplasia type 2, a 3-year-old girl with progressive microcephaly, dystonic limb movements, and absence of motor and cognitive development. Cranial magnetic resonance imaging revealed pontocerebellar hypoplasia. At the age of 2 years, she suffered a Reye-like syndrome that worsened her condition. Differential diagnosis was established with intrauterine injuries, other malformative syndromes, and neurodegenerative or neurometabolic disorders, which can be associated with cerebellar hypoplasia.
Sans-Fitó
Anna
A
Servicio de Neurologia, Unitat Integrada Hospital Clinic-Sant Joan de Déu, Universitat de Barcelona, Spain. annasans@hsjdbcn.org
Campistol-Plana
Jaime
J
Mas-Salguero
María José
MJ
Póo-Argüelles
Pilar
P
Fernández-Alvarez
Emilio
E
D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D009849:Olivopontocerebellar Atrophies / Q000175:diagnosis* / Q000235:genetics; D012202:Reye Syndrome / Q000175:diagnosis* / Q000235:genetics