Hereditary multiple exostoses and porencephaly in a Nigerian child: a case report

Hereditary multiple exostoses and porencephaly in a Nigerian child: a case report

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Hereditary multiple exostoses (HME) is a rare condition that is characterised by the outgrowth of bony swellings, usually from the growth ends of long bones.It is autosomal dominant, and may result in tequila dame mas premium 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 q60 headers 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.