gms | German Medical Science

Objective: Gorlin syndrome, also called nevoid basal cell carcinoma syndrome is an autosomal dominant neurocutaneous disease characterized by developmental defects including bifid ribs, plantar pits and a predisposition to various tumours including basal cell carcinoma, medulloblastoma, ovarioma, cardiac fibroma and keratocystic odontogenic tumor. The genetic basis of Gorlin syndrome is a germline mutation of the human homolog of the Drosophila patched gene (PTCH) located on the long arm of chromosome 9.

Methods: 16-year old girl with known Gorlin syndrome (2 major and 2 minor criteria). She presented with macrocephaly (head circumference 58 cm, 97. percentil), jaw cyst, multiple basal cell carcinomas, strabismus, she had no neurological deficits. MRI was performed because of headache and known association of Gorlin syndrome with brain tumours. It showed a T1 and T2 hyper intense right cerebellar lesion in the IVth Ventricle with low contrast enhancement, without any sign of CSF disturbance. Because of slow growth of the lesion in follow up MRI, the girl underwent surgical resection. The lesion was uneventfully completely resected via suboccipital craniotomy.

Results: The result of histopathological examination was a tanycytic ependymoma WHO II° with PTCH mutation, which could not be classified by molecular diagnostics. No spinal metastasis. The girl had no headaches during the follow up but sometimes a slight dizziness.

Conclusion: Gorlin syndrome predisposes to tumours. Medulloblastoma from the desmoplastic subtype is the characteristic brain tumour in Gorlin syndrome. It usually occurs between 2 and 3 years of age with prevalence from 1 to 4%. To our knowledge there is no report in the literature about Gorlin syndrome associated with tanycytic ependymoma. Tanycytic ependymomas are the rarest variant of ependymoma and occur primarily in the spinal cord. Intracranial cases are even more rare.