Atretic Cephalocele as the Cause of Swelling on the Head of an Infant

An infant exhibiting age-appropriate development was presented to us with a doughy red swelling at the back of the head (Figure 1). Magnetic resonance imaging (MRI) (Figure 2) revealed an atretic cephalocele (green arrow) from which a strand of connective tissue extended over the fenestrated superior sagittal sinus (blue arrow) to an interhemispheric cyst (yellow arrow). The enlarged superior cerebellar cistern (red arrow) and persistent falcine sinus (orange arrow) are also typical. Atretic cephalocele is a rare differential diagnosis and must be distinguished from hemangioma, sinus pericranii, and cysts. It is a congenital anomaly that is generally associated with various changes to venous architecture as mentioned. The malformation contains dysplastic structures. The diagnostic work-up includes a pediatric/neurological examination alongside ultrasound and MRI with vascular imaging. One possible treatment option comprises surgical excision of the cele followed by closure at the level of the dura and, where necessary, cranioplasty. The prognosis is good and largely depends on comorbidities/malformations.

Figure 1

Photo of a 3-month-old infant with swelling at the back of the head

Figure 2

Sagittal MRI (T2 SPACE sequence) of the head

PD Dr. med. Malte Ottenhausen, Prof. Dr. med. Florian Ringel, Klinik und Poliklinik für Neurochirurgie, Universitätsmedizin Mainz,

PD Dr. med. André Lollert, Klinik und Poliklinik für Diagnostische und inerventionelle Radiologie, Universitätsmedizin Mainz

Conflict of interest statement: The authors state that no conflict of interest exists.

Translated from the original German by Christine Rye.

Cite this as: Ottenhausen M, Lollert A, Ringel F: Atretic cephalocele as the cause of swelling on the head of an infant. Dtsch Arztebl Int 2025; 122: 29. DOI: 10.3238/arztebl.m2024.0171