title: Partial sphingomyelinase deficiency with sea-blue histiocytosis and neurovisceral dysfunction.
abstract: A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. Extensive studies revealed sea-blue histiocytosis in bone marrow, delayed peripheral nerve conduction velocity, selective IgG and IgM deficiency, mild hepatosplenomegaly and testicular hypotrophy and retention. Although renal failure, perceptive deafness, immunoglobulin deficiency and testicular malformation are rare conditions in sphingomyelinase deficiency, this case mimicked to lipidosis reported by Neville. The association of congenital malformation and uremia might accentuate the symptoms.
authors.affiliation: Department of Neurology, Nara Medical University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Konagaya
authors.forename: T
authors.initials: T
authors.lastname: Konishi
authors.forename: Y
authors.initials: Y
authors.lastname: Konagaya
authors.forename: T
authors.initials: T
authors.lastname: Takayanagi
authors.forename: E
authors.initials: E
authors.lastname: Kita
authors.forename: T
authors.initials: T
authors.lastname: Muto
mesh_terms: D000293:Adolescent; D003638:Deafness / Q000150:complications*; D004406:Dysgammaglobulinemia / Q000150:complications; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications; D006644:Histiocytes / Q000473:pathology*; D006801:Humans; D017099:IgG Deficiency; D007075:Immunoglobulin M / Q000172:deficiency; D007676:Kidney Failure, Chronic / Q000150:complications*; D008297:Male; D009886:Ophthalmoplegia / Q000150:complications*; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*; D013737:Testis / Q000002:abnormalities
chemical_list: D007075:Immunoglobulin M; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase