Foramina Parietalia Permagna in a Nigerian Family

BACKGROUND: Enlarged parietal foramina are defects in the skull and are believed to be benign and familial and caused by variable degree of defective intramembranous ossification of the parietal bones. They are rare and asymptomatic, usually associated with ALX4 or MSX2 gene mutations and transmitted as autosomal dominant. OBJECTIVE: To highlight the importance of plain radiographs in the diagnosis of this condition and need for health education in affected families. METHODS: A four-year old male presented with a 14-day history of fever, seizures, and loss of consciousness. Full clinical and radiological evaluation was undertaken. RESULTS: Physical examination showed an unconscious boy who was having persistent twitching of the upper limbs. Investigations of skull X-rays which showed bilateral parasagital lucencies in the parietal bones. Ultrasound scan showed a mass in the posterior fourth ventricle. The father admitted to having defects in his skull. The patient’s elder brother also had defects in his skull. CONCLUSION:The case illustrates that PFM is usually benign and mostly discovered accidently. In most cases, health education and reassurance are all that are necessary.