Joubert\u2019s syndrome and related disorders and home-based peritoneal dialysis in East Africa: a case report

Abstract

BackgroundJoubert’s syndrome is a rare condition affecting an estimated 1:80,000–1:100,000 individuals. There is underdevelopment of the cerebellar vermis resulting in a characteristic molar tooth sign on cross sectional axial magnetic resonance imaging. It can occur in association with multi-organ involvement; in such cases it is classified as Joubert’s syndrome and related disorders. To date, there are no cases of Joubert’s syndrome and related disorders from sub-Saharan Africa described in the literature.Case presentationAn 8 year old black Kenyan female child was diagnosed in Joubert’s syndrome in her first year of life. She was noted to have dysmorphic facies and hypotonia in the neonatal period and cranial MRI showed dysplasia of the cerebellar vermis and typical molar tooth malformation. She was subsequently lost to follow up for several years and later presented with anaemia. Further investigation revealed bilateral multicystic kidneys and significant renal impairment consistent with a diagnosis of end stage renal failure and polycystic kidney disease. She underwent home peritoneal dialysis for 7 months.ConclusionsJoubert’s syndrome and related disorders is a rare condition. This case report demonstrates that home peritoneal dialysis is feasible in a low resource setting. Although it is scarcely provided in African countries, it is an effective renal replacement strategy for patients with end stage renal disease.