Partial Sphingomyelinase Deficiency with Sea-Blue Histiocytosis and Neurovisceral Dysfunction

Masaaki KONAGAYA; Toshihiko KONISHI; Yoko KONAGAYA; Tetsuya TAKAYANAGI; Etsuko KITA; Tatsuro MUTO

doi:10.2169/internalmedicine1962.28.85

Masaaki KONAGAYA, Toshihiko KONISHI, Yoko KONAGAYA, Tetsuya TAKAYANAGI, Etsuko KITA, Tatsuro MUTO

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Keywords: Sphingomyelinase deficiency, Vertical ophthalmoplegia, Alport syndrome, Immunoglobulin deficiency, Testicular hypotrophy, Sea-blue histiocytes

JOURNAL FREE ACCESS

1989 Volume 28 Issue 1 Pages 85-88

DOI https://doi.org/10.2169/internalmedicine1962.28.85

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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.

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