gms | German Medical Science

Objective: Here we present a rare case of an infant suffering from foramina parietalia permagna combined with an atretic cephalocele. Large parietal foramina are a rare clinical entity with a prevalence ranging from 1:15,000 to 1:25,000. The skull defect is usually identified on physical examination and confirmed radiographically. We present a case with an atretic cephalocele and large persistent parietal foramina that increased in size over time and were revealed during surgery.

Method: The female patient was presented to our department at 2 months of age. She was born at gestational age 38, with a birth weight of 2710 g. After birth a soft swelling was noted parietooccipial and diagnosed as a collection of cerebrospinal fluid underneath the skin. Over time this swelling was documented to grow in size. An MRI showed an occipital cephalocele surrounded by cerebrospinal fluid, an agenesis of the corpus callosum and a hypoplastic vermis. When first introduced to our department the patient showed wide sutures. The patient had no other neurological symptoms. During surgery the subdural collection of cerebrospinal fluid was identified as enlarged parietal foramina measuring 3x2 and 2x2.5 cm. The brain tissue was elevated above bone level and lacked a dural cover. Surgical treatment involved covering the brain tissue with an artificial dura substitute and performing cranioplasty using autolog bone fragments.

Results: The cosmetic result was satisfying. There have been no problems with the wound healing and no new neurological deficits occurred. So far we do not observe osteolysis of the autologous bone fragments. Long-therm follow-ups will be performed.

Conclusions: Cephaloceles have rarely been associated with enlarged parietal foramina. Only one other case was published. Developmentally enlarged parietal foramina arise as ossification defects involving the parietal bone. If the defect occurs bilaterally it is subsequently cleaved into two foramina by parasagittal islands of ossification. Typically the cleft decreases in size during development. This case is exceptional because the infant required surgery at a very early age. Also to our knowledge this is the only case in which the foramina parietalia increased in size. We hypothesize this is due to the fact that no dura was covering the pulsating brain underneath the bone defect, consequently the skull bone was exposed to cerebrospinal fluid which is suspected to cause osteolysis.