Acalvaria is a rare and lethal congenital malformation characterized by the absence of the cranial vault bones, dura mater and associated muscles with complete cranial content. We report a 5-year-old Malian girl seen at 20 months old for facial dysmorphia, hemiparesis, and a cranial bone defect that improved progressively.

Friedreich ataxia is the most common inherited ataxia in the world, but yet to be reported in black African. We report the first genetically confirmed case in a West African family. Studying genetic diseases in populations with diverse backgrounds may give new insights into their pathophysiology for future therapeutic targets.