Article abstract

Hereditary multiple exostoses (HME) is a rare condition that is characterised by the development of bony swellings, usually at the growth ends of long bones. It is autosomal dominant, and may result in debilitating deformities. Porencephaly on the other hand is a cystic degeneration of the brain that is associated with the development of encephalomalacia. There is no established link between HME and porencephaly. This case report describes a seven year old female that has features of coexisting HME and porencephaly. She presented with afebrile seizures, learning impairment, stunted growth, macrocephaly and multiple bony swellings. Similar bony swellings were observed in the mother and the sibling of the index case. The coexistence of HME and porencephaly is rarely encountered in clinical practice. This presentation should stimulate the search for a possible link, which may perhaps herald the discovery of a new syndrome.