pontozerebelläre Hypoplasie

Infant with

seizures. Sagittal T1 MRI without contrast of the brain shows severe hypoplasia of the pons and cerebellum. The fourth ventricle is enlarged and the posterior fossa is of normal size.The diagnosis was pontocerebellar hypoplasia.

Pontocerebellar

hypoplasia • Pontocerebellar hypoplasia - Ganzer Fall bei Radiopaedia

Pontocerebellar

hypoplasia • Cerebellar agenesis with hypoplastic pons (pontocerebellar hypoplasia) - Ganzer Fall bei Radiopaedia

Pontocerebellar

hypoplasia • Pontocerebellar hypoplasia - Ganzer Fall bei Radiopaedia

EXOSC3

mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Ventral pons/tegmentum ratios in PCH patients. On midsagittal MR images, surfaces of ventral pons and pontine tegmentum were defined as shown in Figure A. Patients with a homozygous p.D132A mutation in EXOSC3 (n=3) present a pons/tegmentum ratio comparable to controls (n=23, age neonatal to 11y). Patients with a homozygous p.G31A mutation (n=5), a p.D132A mutation plus a nonsense or p.Y109N allele (n=4) or a homozygous p.G135E mutation (n=1) show a decreased ratio, approaching that seen in patients with a p.A307S mutation in the TSEN54 gene (n=6) (B). Three-dimensional images were constructed of the pons, tegmentum and part of the medulla. The reconstructions show an attenuated pons in a patient 5-I (C, homozygous p.G31A mutation) and patient 8 (E, p.D132A plus large deletion) compared to patient 7-I (D, homozygous p.D132A) or a control subject (F). Scale bar in C-F=1cm. VP=ventral pons; T=tegmentum.

EXOSC3

mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations. Brain MRI of PCH patients with an EXOSC3 mutation. Sagittal and coronal images of a patient with a homozygous p.G31A mutation (A, patient 5-II, age 2w), a patient with a homozygous p.D132A mutation (B, patient 7-I, age 11y) and a patient with a p.D132A mutation and large deletion (C, patient 8, age 1mo). Cerebellar cysts in this last patient are indicated by arrow heads.

Classification,

diagnosis and potential mechanisms in Pontocerebellar Hypoplasia. MRI sections of cases with PCH type 1, type 2 and type 4. The images of the PCH1 case were kindly provided by Professor Darin, The Queen Silvia. Children"s Hospital, Gothenburg University, Sweden. 1A-C: Images of a 2 wk old neonate with PCH1. 1A: Mid-sagittal section (T1) shows vermal hypoplasia and marked cerebellar hypoplasia. 1B: Lateral sagittal section (T1) shows severe hypoplasia of the cerebellar hemispheres. 1C: Coronal section (T2) shows flattened cerebellar hemispheres which also display some atrophy. The vermis is relatively spared. 1D-E: Images of a 2 months old baby with PCH2. 1D: Mid-sagittal section (T1IR) shows a flat ventral pons and vermal hypoplasia. 1E: Lateral sagittal section (T1IR) shows severely hypoplastic cerebellar hemispheres (arrow) leaving most of the posterior fossa empty. 1F: Coronal section (T2) of a 9 months old infant with PCH2 shows flat cerebellar hemispheres and mild vermal hypoplasia (dragonfly configuration). Cerebral cortical atrophy is also present. 1G-I: Images of a 31+5 weeks neonate with PCH4. 1G: Mid-sagittal section (T2) shows severe vermal hypoplasia and ventral pontine flattening. 1H: Lateral sagittal section (T2) shows severe hypoplasia of the cerebellar hemispheres. Above the tentorium there is an increased distance between the cortical surface and the skull visible, which is probably due to diminished brain growth in utero. 1I: Coronal section (T1) shows extremely small and flattened cerebellar hemispheres and severe vermal hypoplasia. Immaturity of cerebral cortex and enlarged ventricles are also visible.

Pontocerebellar

hypoplasia • Pontocerebellar hypoplasia - Ganzer Fall bei Radiopaedia