Nine Cases of Sphingomyelin Lipidosis, a New Variant in Spanish-American Children

Wenger, David A.

doi:10.1001/archpedi.1977.02120220021002

Cited by 76 publications

(26 citation statements)

References 20 publications

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“…Of nine cases reported by Wenger et al (1977), all had neurological involvement and thus are different from our family. In addition, the levels of sphingomyelinase reported did not approach the low level (5 %) seen in our patient, the lowest level in their patient being 12%.…”

Section: Discussioncontrasting

confidence: 79%

“…Golde et al (1975) reported partial deficiency of sphingomyelinase in the fibroblasts of three siblings with sea blue histiocytosis. Further cases of this association have been described (Long et al, 1977;Wenger et al, 1977;Fried et al, 1978). In this report we describe a Received for publication 23 April 1979 further patient suffering from non-neuropathic Niemann-Pick disease.…”

mentioning

confidence: 68%

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Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease.

Dewhurst¹,

Besley²,

Finlayson³

et al. 1979

J Clin Pathol

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SUMMARY A patient with Niemann-Pick disease is reported together with family studies. Her liver and bone marrow were shown to be infiltrated with sea blue histiocytes. Other organs, spleen and lung, were presumably also involved but histological proof was not obtained. Enzyme assay of leucocytes, lymphocytes, and cultured skin fibroblasts showed the patient to be deficient in sphingomyelinase activity. In fibroblasts, activity was 5 % of normal while for the parents activity was about 50 % of normal. The expected partial deficiency was not found using leucocytes or lymphocytes from the parents. Heat stability studies on fresh fibroblast extracts from the propositus indicated that residual sphingomyelinase activity was slightly more labile than that of the controls. It seems clear that chronic Niemann-Pick disease without neurological involvement is associated with sea blue histiocytosis.

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Section: Discussioncontrasting

confidence: 79%

mentioning

confidence: 68%

Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease.

Dewhurst¹,

Besley²,

Finlayson³

et al. 1979

J Clin Pathol

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“…For example, neurological examinations of patients with Machado-Joseph disease, a neurodegenerative disease with oculomotor abnormalities that include slow saccades [39] and neuronal loss in the oculomotor nuclei, show a high incidence of gaze-evoked nystagmus [14,30,33,39] (65.1%, according to Shimizu et al [39]). There are several central nervous system diseases that mainly affect saccade velocity, for example Niemann-Pick disease [5,10,34,45], Gaucher's disease [10,43] and progressive supranuclear palsy [12,40]. However, most of the reports on these diseases do not contain sufficient neurotological description including the range of eye movement and gaze nystagmus, as far as we know.…”

Section: Discussionmentioning

confidence: 99%

Saccadic slowing in myotonic dystrophy and CTG repeat expansion

Osanai

Kinoshita

Hirose

1998

Journal of Neurology

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Recent studies have shown that the severity of the several clinical symptoms of myotonic dystrophy (DM) is closely related to the size of a CTG triplet repeat in the gene encoding myotonin protein kinase. Although neurotological findings, including saccadic slowing in patients with DM, have been reported, the relationship between these neurotological findings and elongation of the CTG triplet repeat has not been discussed to our knowledge. We made a case-control study that compared the saccadic velocity in 13 patients with DM and in 13 controls matched for age and sex. We also examined the correlation between the saccadic velocity in DM patients and the size of the expanded DNA fragment (EF) obtained by Southern blot analysis with EcoRI or BglI. We found: (1) The primary eye position was normal in 9 of 12 patients. Divergent strabismus was present in 3 patients. (2) The range of ocular movement was normal in 2 patients, nearly normal in 5 and minimally limited in the other 5. (3) Only 1 patient had lateral gaze nystagmus, which was fine and transient. (4) The horizontal saccades were essentially normometric in 11 of the 13 patients, slightly hypometric in 1 and obviously hypometric in 1. These last 2 patients had the second longest and longest EF sizes. The vertical saccades were essentially normometric in 8 of 12 patients, hypermetric in 3, and hypometric in the 1 with the longest EF size. (5) The saccadic velocity in the DM patients was significantly lower than that in the controls in the horizontal or vertical direction, the difference being more prominent in the horizontal direction. (6) The correlation coefficients between horizontal saccadic velocity and EF size, 0.801 (EcoRI) and 0.756 (BglI), had a strong negative correlation (P < 0.01 for both EcoRI and BglI). No statistically significant correlation was found between vertical saccadic velocity (upward and downward) and EF sizes. Although it was difficult to determine whether saccadic slowing was caused by central oculomotor system involvement or extraocular muscle atrophy, the absence of gaze-evoked nystagmus in almost all of the patients favours the latter. Our study shows that neurotological examinations that include a saccadic velocity test are very useful for detecting subtle eye movement abnormalities in DM and for quantitatively evaluating the clinical severity of DM.

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“…The designation "SBH syndrome" has been reserved for those conditions in which there is a significant accumulation of these cells in multiple organs in patients with no apparent predisposing disorders [ 1,2]. Recent studies suggest that a subset of SBH syndrome may actually be a type of adult N-P disease (B,D, or E) [13][14][15][16][17][18]. This suggestion has been supported by sphingomyelinase assay studies, which have shown decreased sphingomyelinase activity in SBH syndrome similar to N-P disease [13][14][15]181.…”

Section: Discussionmentioning

confidence: 99%

“…This claim is based on histochemical, ultrastructural, lipid analysis, and enzyme assay data documenting the similarities between these two diseases [14][15][16][17][18]. We report the clinical, pathologic, and metabolic features of a 48-year-old white woman who, in the course of evaluation of severe, debilitating coronary artery disease, was found to have hyperlipoproteinemia and hepatosplenomegaly with multiorgan infiltration by sea blue histiocytes.…”

Section: Introductionmentioning

confidence: 99%

Adult Niemann‐Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays

Landas¹,

Foucar²,

Sando³

et al. 1985

American J Hematol

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We present the clinical, pathologic, and metabolic findings of an adult woman with debilitating coronary artery disease and hepatosplenomegaly who was discovered to have multiorgan infiltration by sea blue histiocytes. A diagnosis of sea blue histiocyte (SBH) syndrome was made and no further workup performed. The patient suffered from progressive heart failure and sepsis following coronary artery bypass surgery and died 9 months after presentation. Tissues examined at autopsy showed pronounced infiltrates of both granular sea blue histiocytes and foamy, vacuolated histiocytes, which were morphologically compatible with Niemann-Pick cells. Ultrastructural examination of these cells revealed lamellar myelin-like figures as described in Niemann-Pick (N-P) disease. Fibroblast enzyme assay studies and liver lipid analyses performed after the patient's death revealed pronounced sphingomyelinase deficiency and a lipid profile diagnostic of N-P disease, type B. This case adds further support to the claim that some cases of apparent SBH syndrome actually represent a type of N-P disease.

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Nine Cases of Sphingomyelin Lipidosis, a New Variant in Spanish-American Children

Cited by 76 publications

References 20 publications

Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease.

Sea blue histiocytosis in a patient with chronic non-neuropathic Niemann-Pick disease.

Saccadic slowing in myotonic dystrophy and CTG repeat expansion

Adult Niemann‐Pick disease masquerading as sea blue histiocyte syndrome: Report of a case confirmed by lipid analysis and enzyme assays

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