Partial Sphingomyelinase Deficiency with Sea-Blue Histiocytosis and Neurovisceral Dysfunction

Masaaki Konagaya, Toshihiko Konishi, Yoko Konagaya, Tetsuya Takayanagi, Etsuko Kita, Tatsuro Muto

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)85-88
Number of pages4
JournalJapanese Journal of Medicine
Issue number1
Publication statusPublished - 1989
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)


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