Potocki-Shaffer Syndrome: A case study

The Potocki-Shaffer syndrome (OMIM #601224) is a rare contiguous gene syndrome resulting from the microdeletion on chromosome 11p11.2p12. Patients show distinctive craniofacial abnormalities, a frequently generally retarded development, multiple exostoses, bifrontal foramina and genitourinary abnormalities. Less than fifty cases have been described in literature worldwide.

We present a boy aged 2 8/12 years who was diagnosed as having BNS epilepsy at 9 months. While on Vigabatrin for a short period he had no seizures, subsequently he underwent an ACTH therapy and remained free from seizures only for several weeks. Since then the seizures have been therapy-refractory. The current anticonvulsant therapy consists of Valproic acid, Clobazam and Lacosamide. The patient shows a pronounced muscle hypotony, can sit freely, turn and belly crawl short distances. He can rise to all-fours position, however cannot yet crawl. In speech he vocalizes.

The following craniofacial signs of dysmorphy are present: bilateral epicanthic fold, prominent forehead, low positioned, slightly dysplastic ears, sunken root of the nose, brachycephaly and strabismus. MRT examination shows fronto-temporal cerebral atrophy, other findings include bilateral plexus cysts. Radiological examinations have as yet revealed no exostoses, which is in line with literature where these do not become manifest until patients are older than 3 years. Bifrontal foramina were well represented on x-ray. A CGH array was conducted during etiologic diagnosis. This showed a 7.9 megabase deletion in the chromosome region 11p12–11p11.2 which together with the clinical characteristics enabled diagnosis of the Potocki- Shaffer syndrome.