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.