Phenotype #0000167543
| Individual ID |
00218980 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
- |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
00y01m |
| Phenotype/Onset |
Head circumference >75th percentile |
| Phenotype details |
Disease course: At age 14y: no neurological deficits; At age 15y: nodular/desmoplastic variant medulloblastoma WHO grade IV in left cerebellum (HP:0007129) (incidentally found in routine MRI) without distal metastases, post-operatively difficulties with gait but no dystonia; 01m post-resection: acute hydrocephalus requiring emergency ventriculostomy; 01y post-resection: dizziness and weakness (attributed to chemotherapy); At age 15y08m: residual neurological deficit but no dystonia; MRI (age 09y): prominence of bilateral subarachnoid space in Sylvian fissure and anterior middle cranial fossa with bilateral symmetric increase in centrum semiovale (T2), no dissfusion abnormality, subependymal nodule in left lateral ventricle; MRI(age 14y): left cerebellar mass, typical diffusion abnormalities in supratentorial white matter, other previous findings unchanged; MRI (age 15y): worsening of white matter changes without associated clinical deficits |
| Protein |
- |
| Biochem |
- |
| Enzyme/Activity |
nil (fibroblasts) |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-02-05 10:03:52 +01:00 (CET) |
| Date last edited |
N/A |
|
