Kleinhirnhypoplasie

Gillespie

syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features. MRI brain performed at 10 years of age revealing cerebellar especially vermis hypoplasia, cerebral atrophy and white matter changes

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Cerebellar

hypoplasia • Global cerebellar hypoplasia - Ganzer Fall bei Radiopaedia

Hamidi, H. Global cerebellar hypoplasia. Case study, Radiopaedia.org. (accessed on 21 Oct 2022) https://doi.org/10.53347/rID-63628 • CC by-nc-sa 3.0 (modified)

X-linked

disorders with cerebellar dysgenesis. Brain MRI studies of patients with XLCD. 1 a-c (male proband of a family with X-linked congenital ataxia) Midsagittal T1-weighted image showing an overall size reduction of the cerebellum predominant in the vermis with widened interfolia sulci. Brainstem is normal (a). Axial T2-weighted image showing global cerebellar hypoplasia without dysplasia (b). Axial T2-weighted image showing normal cortex and ventricles (c). d-f (male patient carrying a OPHN1 mutation): midsagittal T1-weighted image showing hypoplastic cerebellar vermis and enlarged cisterna magna (d) axial T2-weighted image showing cerebellar hypoplasia and vermis dysplasia (e) axial T2-weighted image showing lateral ventricle dilatation and mild cortical atrophy (f). g-i (female patient carrying a CASK mutation): Midsagittal T1-weighted image showing moderate vermis hypoplasia and flat pons (g). Axial T2-weighted image showing simplified gyral pattern and ventricular dilatation (h). Coronal T2-weighted image showing global cerebellar hypoplasia and simplified cortical gyri (i).

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Radiopaedia • CC-by-nc-sa 3.0 • de

Cerebellar hypoplasia is a type of congenital morphological cerebellar abnormality in which the cerebellum has reduced volume, but a normal shape, and is stable over time . The pattern of volume loss may be regional (affecting only part of the cerebellum) or global.

Terminology

Global cerebellar hypoplasia can appear indistinguishable from diffuse cerebellar atrophy on a single study and can only be distinguished from the latter by demonstrating or implying (clinically) that there has been no change over time .

Clinical presentation

The clinical presentation is different varying from normal to severe bilateral spastic cerebral palsy, intellectual disability, seizures, microcephaly and sensorineural hearing loss .

Pathology

The primary causes of global cerebellar atrophy are chromosomal abnormalities, metabolic disorders, genetic syndromes, and migrational disorders while congenital infections (cytomegalovirus followed by rubella and varicella viruses) are considered as secondary causes .

Radiologic features

All imaging modalities show a generalized reduction in size and volume of the cerebellum (involving both hemispheres and vermis) however its shape is preserved.