eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cerebellar hypoplasia |
| Comorbidity | C0010964|dandy-walker malformation |
| Sentences | 2 |
| PubMedID- 24884629 | Sixty-three cases (88.73%), including 42 patients subjected to mri and 21 subjected to ct scans, showed one or more structural anomalies, namely: 45 cases displayed corpus callosum defects (agenesis or hypoplasia, acc); arachnoid cysts were observed in 25 cases; 23 cases presented malformations of cortical development (mcd) (neuronal migration/organisation disorders, pachygyria, gray matter heterotopias, cortical dysplasia, polymicrogyria and schizencephaly); cerebellar developmental anomalies (cdas) (cerebellar hypoplasia, isolated or associated with dandy-walker malformation [dwm], or dysplasia) were described in 20 cases (dwm, in particular, was observed in 5 patients); cerebral atrophy and/or hypoplasia were detected in 9 cases; hydrocephalus or ventriculomegaly was observed in 8 cases; porencephaly was recognized in 3 cases, brain stem anomalies (hypoplastic and/or dysmorphic pons and/or medulla) in 2 cases, and hypothalamic hamartoma was found in one case. |
| PubMedID- 24732409 | Patients with plg deficiency exhibit symmetric internal hydrocephalus with a dandy-walker malformation, hypoplasia of the cerebellum, and a hypoplastic corpus callosum [26], indicating an important role of the plg activation system in neuronal development. |
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