Consanguinity and rare neurological disease. A five year experience from the Korle Bu Teaching Hospital, Accra, Ghana

INTRODUCTION: Marriage between close biological kin is not regarded as advantageous in the western world but in other parts of the world, consanguineous unions persist. Consanguineous marriage increases the birth prevalence of individuals with recessive disorders. In Accra, Ghana, consanguinity is beginning to emerge as a significant cause of rare neurological disease at the central referral hospital at Korle Bu in Ghana. METHOD: Documentation of rare neurological and genetic diseases over a five year period resulting from consanguinity (2010–2015) presenting to the Department of Child Health, Korle Bu Teaching Hospital, Accra. RESULTS: One of the three siblings with zeroderma pigmentosum was identified as the rare De Sanctis Cacchione syndrome which has not been previously reported from West Africa. Five cases of spinal muscular atrophy including three consecutive siblings with the disease, MCAD deficiency (1), inborn errors of metabolism (1), ceroid lipoid fuscinosis (6), a case of Meckel Gruber syndrome. CONCLUSION: Rare neurological disease occurs in West African communities as a result of consanguinity.