[Value of bronchoalveolar lavage in the diagnosis of pulmonary involvement in storage diseases]. / Valor del lavado broncoalveolar en el diagnostico de las enfermedades de deposito con compromiso pulmonar.

A 17 years old female with hepatosplenomegaly and pulmonary infiltrates since the age of four is presented. Sea-blue histiocyte disease, a sphingolipidosis, was diagnosed by liver biopsy, bone marrow aspirate and bronchoalveolar lavage. The relevance of bronchoalveolar lavage as a diagnostic method in cases of systemic diseases with pulmonary involvement is emphasized.

Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study.

Four siblings of a large Brazilian kindred are shown to have a variant of Niemann-Pick disease masquerading as the sea-blue histiocyte syndrome. They show a very similar clinical and laboratory picture: massive hepatosplenomegaly, low height for age, diffuse interstitial pulmonary infiltration, high levels of serum acid phosphatase and sea-blue histiocytes in the bone marrow. The neurological examination, as well as the retinae and maculae are normal. The high-density lipoprotein serum cholesterolemia ranged from 8.6 to 13.9 mg/dl, much lower than the 5th centile of normal distribution. The AI apolipoprotein concentrations in two siblings (0.29 and 0.44 g/l) were also below the minimal reference level of 0.90 g/l. The histochemical reactions demonstrated that sphingomyelin and ceroid are the accumulating substances in the marrow histiocytes. Electron microscopically, the cytoplasmatic granules of the histiocytes are phagolysosomes which contain scarce amorphous material, loose arranged lamellae, or dense well-organized structures with a fingerprint or fine network pattern. The sphingomyelinase activity in leucocyte extracts ranged from 4.9 to 8.6% and in cultured fibroblast extracts from 7.7 to 10% of simultaneous controls. The activity of other lysosomal enzymes was normal. Accordingly, this variant of Niemann-Pick disease should be classified as chronic nonneuronopathic sphingomyelinase-deficient type. The present data suggest that this variant is inherited as an autosomal recessive character. Our findings support the view that the sea-blue histiocyte syndrome is not an independent entity.

[Sea-blue histiocyte syndrome]. / Síndrome del histiocito azul marino.

The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non saturated, oxidated, polymerized lipids is observed; ceroids of lipofuscin, glycophospholipids and sphingomyelin, like bulky granules 1 to 3 u in diameter, turn blue with May Grunwald staining, orange reddish with PAS and black with Sudan III and osmic acid. The sea-blue histiocytes are preferably located at the bone marrow, liver and spleen and less frequently in lymph nodes, lungs and some other organs. The prognosis is variable: fatal in the central nervous system location, relatively mild in cases of spleen and bone marrow location. The possibility of complicating hepatic cirrhosis and/or pulmonary fibrosis is always present. Seven cases are described in this paper, 4 of them family related. Acute myelomonocytic leukemia in one case and histioimmunoblastic lymphoma in another were complications not yet reported in the literature.

Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.

Very low serum levels of high density lipoprotein cholesterol ranging from 8.6 to 13.9 mg/dl were detected in four out of 12 sibs of a Brazilian kindred with the non-neuropathic form of Niemann-Pick disease. Hepatosplenomegaly, interstitial infiltration of the lungs, absence of neurological signs, sea-blue histiocytes in the bone marrow and liver, and high values for serum acid phosphatase (18 to 32 U/l) were common to all affected children. Leucocyte acid sphingomyelinase activity ranged from 3.6 to 6.5% of mean control values, and fibroblast activity from 9 to 13% of mean controls. The parents had low-normal levels. The relationship between these findings is unclear and deserves further investigation.

[The sea blue histiocyte syndrome: a case report]. / Sindrome del histiocito azul marino: caso clínico.

A young pregnant woman presented with splenomegaly and a hemorrhagic syndrome. A persistent alteration of several coagulation tests was demonstrated. Large foamy pigmented macrophages were shown by bone marrow aspiration. The histopathologic findings are consistent with the sea blue histiocyte syndrome, a benign type of lipid storage disease.

Síndrome de histiocitos azul marino: primeros casos en México y revisión de la literatura / Sea-bluex histiocytes syndrome: first cases reported in México and literature review

Se describe el caso clínico de una paciente con anemia por deficiencia de hierro y folatos y sus dos hijos sanos, en las médulas óseas de los cuales se encontraron las células características del síndrome de histiocitos azul marino. El síndrome fue de natureza primaria, tuvo carácter familiar y, en los casos informados, su evolución clínica fue silenciosa; ésta parece ser la primera descripción del mismo en México