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Revista de Investigacion Clinica;... 1973
Topics: Adolescent; Adult; Bone Marrow Diseases; Child; Hepatomegaly; Humans; Lymphatic Diseases; Male; Middle Aged; Splenomegaly; Syndrome
PubMed: 4805166
DOI: No ID Found -
Revista Clinica Espanola Nov 1981
Topics: Adult; Bone Marrow; Female; Hematologic Diseases; Histiocytes; Humans; Rheumatic Heart Disease; Syndrome
PubMed: 7330361
DOI: No ID Found -
Journal of Medical Genetics Aug 1990Very 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...
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.
Topics: Acetylesterase; Adolescent; Adult; Child; Child, Preschool; Cholesterol, HDL; Female; Fibroblasts; Humans; Leukocytes; Male; Middle Aged; Niemann-Pick Diseases; Sea-Blue Histiocyte Syndrome; Sphingomyelin Phosphodiesterase; beta-Galactosidase; beta-Glucosidase
PubMed: 2120445
DOI: 10.1136/jmg.27.8.499 -
Respiratory Medicine Dec 2000Niemann-Pick disease (NPD) is a rare, inherited, autosomal recessive, lipid storage disease. The pathognomonic intracellular accumulation of sphingomyelin results in the... (Review)
Review
Niemann-Pick disease (NPD) is a rare, inherited, autosomal recessive, lipid storage disease. The pathognomonic intracellular accumulation of sphingomyelin results in the production and accumulation of 'foam cells'. Interstitial lung disease is a rare manifestation of NPD. We present the case of a 48-year-old white female with NPD involving the lungs, liver and spleen. The chest radiograph showed bilateral, predominantly basal reticulonodular infiltrates and serial pulmonary function tests over a period of years showed preserved expiratory airflow and a severely decreased diffusion capacity for carbon monoxide (DLCO). In view of her visceral involvement, lack of neurological symptoms and survival into adulthood, we believe our patient represents a case of type B NPD. In this type of NPD, aside from prominent hepatosplenomegaly and sexual immaturity, significant pulmonary infiltration with 'Pick cells' has been reported. To date, no therapeutic modality has been shown to alter the natural history of this disease, which results in progressive debilitation and death. This case is unique in that it provides the longest physiological follow-up in the literature, and provides data on the natural history of pulmonary involvement in NPD.
Topics: Carbon Monoxide; Diffusion; Female; Humans; Lung Diseases, Interstitial; Middle Aged; Niemann-Pick Diseases; Radiography; Respiratory Function Tests; Sea-Blue Histiocyte Syndrome
PubMed: 11192962
DOI: 10.1053/rmed.2000.0942 -
Annals of Neurology Aug 1984A 15-year-old girl evidenced a slowly progressive central nervous system degenerative disorder. The illness had begun and progressed between ages 1 and 12 years, with...
A 15-year-old girl evidenced a slowly progressive central nervous system degenerative disorder. The illness had begun and progressed between ages 1 and 12 years, with ataxia, spasticity, choreoathetosis, early-onset seizures (which later ceased), and mild retardation. At age 13 she had developed rapidly progressive generalized weakness and atrophy, indicating peripheral nervous system involvement. Laboratory investigation revealed the presence of sea-blue histiocytes in the bone marrow without evidence of a disorder of sphingolipid metabolism or neuronal ceroid lipofuscinosis. Muscle biopsy showed large- and small-group atrophy, and sural nerve biopsy demonstrated axonal degeneration. This patient's illness appears to be a hitherto undescribed form of "sea-blue histiocytosis" associated with neurological dysfunction in children.
Topics: Adolescent; Anterior Horn Cells; Axons; Bone Marrow; Cerebral Palsy; Cytoplasmic Granules; Female; Humans; Inclusion Bodies; Motor Neurons; Muscles; Muscular Atrophy; Myelin Sheath; Nerve Degeneration; Sea-Blue Histiocyte Syndrome; Skin; Sural Nerve
PubMed: 6089645
DOI: 10.1002/ana.410160205 -
Metabolism: Clinical and Experimental Oct 2009A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a...
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation.
A 31-year-old man with no significant medical history presented with a 5-day history of progressive left upper quadrant abdominal pain. Physical examination revealed a tender guarded abdomen, no icterus, and bilateral corneal "arcus senilis"-like changes. Laboratory workup showed a mild normocytic, normochromic anemia; and target cells were seen in the peripheral blood smear. Serum was turbid; and the lipid profile showed elevated total cholesterol, low high-density lipoprotein cholesterol, and elevated triglycerides. Urinalysis revealed nephrotic range proteinuria with microhematuria. An abdominal computed tomographic scan demonstrated a homogeneously enlarged spleen. The patient was discharged after symptomatic treatment to be followed as an ambulatory patient. Several days later, he returned with severe left upper quadrant pain and was admitted to the surgical service for further evaluation. A splenectomy was performed for a suspected splenic lymphoma. Upon gross examination, spleen was moderately enlarged, weighing 780 g. Sectioning revealed a beefy red cut surface without gross lesions. Wright-Giemsa-stained touch imprints showed many sea-blue histiocytes. A renal biopsy was also performed, demonstrating focal segmental glomerular sclerosis and mesangial expansion with extramembranous and intramembranous deposition of lipids. In the absence of hematologic malignancy and in light of the abnormal lipid profile, a disorder of lipid metabolism was suspected. Histologic and ultrastructural findings in the kidney and spleen raised the likelihood of lecithin-cholesterol acyltransferase (LCAT) deficiency, which was confirmed by the markedly decreased serum LCAT activity and serum LCAT mass. We describe a case with the triad of splenomegaly with sea-blue histiocytes, nephropathy, and dyslipidemia in a patient with LCAT deficiency.
Topics: Adult; Blood Cell Count; Dyslipidemias; Humans; Kidney; Kidney Diseases; Lecithin Cholesterol Acyltransferase Deficiency; Liver; Male; Microscopy, Electron, Transmission; Phosphatidylcholine-Sterol O-Acyltransferase; Sea-Blue Histiocyte Syndrome; Spleen; Splenomegaly; Tomography, X-Ray Computed
PubMed: 19592052
DOI: 10.1016/j.metabol.2009.04.033 -
Anales Espanoles de Pediatria Jan 1989
Topics: Albinism; Bone Marrow Cells; Child, Preschool; Chronic Disease; Hepatitis B; Histiocytes; Humans; Liver; Male; Retinal Pigments; Sea-Blue Histiocyte Syndrome
PubMed: 2930085
DOI: No ID Found -
La Nouvelle Presse Medicale May 1982
Topics: Adult; Histiocytes; Humans; Lymphatic Diseases; Male; Rupture, Spontaneous; Splenic Rupture
PubMed: 7110949
DOI: No ID Found -
Sangre 1977
Topics: Adolescent; Diagnosis, Differential; Histiocytes; Humans; Lymphatic Diseases; Male
PubMed: 897958
DOI: No ID Found -
Sangre 1978
Topics: Diagnosis, Differential; Gingival Neoplasms; Histiocytes; Humans; Lymphatic Diseases; Pigmentation; Skin Neoplasms
PubMed: 675456
DOI: No ID Found