Osteopetrosis due to Homozygous Chloride Channel ClCN7 Mutation Mimicking Metabolic Disease with Haematological and Neurological Impairment

Abstract

Osteopetrosis is a rare but considerable differential diagnose for unclarified change in haematopoetic cell lines combined with severe neurological symptoms mimicking metabolic or haematological disease. Because of this rare disease a consensus protocol for diagnostics, treatment and follow up of patients suffering from osteopetrosis is recently worked out from the European Group of Blood and Marrow Transplantation (EBMT) and the European Society for Immundeficiencies (ESID) to build up a central registry for this disease (available by ansgar.schulz@uniklinik-ulm.de).

Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

“…Osteopetrosis is a heterogeneous group of genetic bone disorders caused by failure of osteoclast generation or function (Besbas et al, 2009;Furthner et al, 2010;Kajiya et al, 2009;Perdu et al, 2009;Phadke et al, 2010). Based on its severity and secondary clinical features, age of onset and means of inheritance, osteopetrosis is classified into three types: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO) (Besbas et al, 2009;Pangrazio et al, 2009;Perdu et al, 2009).…”