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.
