title: Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.
abstract: Niemann Pick Type C2 (NPC2) is a rare autosomal recessive disease caused by mutations in the NPC2 gene (OMIM 601015). Clinically, NPC2 presents in most cases in the neonatal period with inflammatory lung disease, which may lead to death in the first year. If patients survive the neonatal period, they may develop a severe neurological disease. Here we present the developmental and neurological follow up at 5 years of age of a child with NPC2 successfully treated with allogenic bone marrow transplantation (BMT) at the age of 16 months. A homozygous p.E20X sequence variation previously associated with a severe phenotype was identified. In contrast to the previously reported patients with the same mutations, our patient has no respiratory compromise and has made some developmental progress (especially gross motor), though is significantly delayed (particularly in speech and language). Haematopoietic stem cell transplantation (HSCT) could be considered for patients with this mutation as long as performed early in the course of the disease.
authors.affiliation: Genetic Medicine and Manchester Academic Health Science Centre, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. catherine.breen@cmft.nhs.uk
authors.forename: C
authors.initials: C
authors.lastname: Breen
authors.forename: R F
authors.initials: RF
authors.lastname: Wynn
authors.forename: A
authors.initials: A
authors.lastname: O'Meara
authors.forename: E
authors.initials: E
authors.lastname: O'Mahony
authors.forename: S
authors.initials: S
authors.lastname: Rust
authors.forename: J
authors.initials: J
authors.lastname: Imrie
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
mesh_terms: D016026:Bone Marrow Transplantation; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D052556:Niemann-Pick Disease, Type C / Q000503:physiopathology / Q000601:surgery*; D014184:Transplantation, Homologous