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1/12. Lipid anomaly in a child with partial duplication 3p.

    The authors report a case regarding a 7-year-old girl affected by short height, bone growth delay, lipidic alterations (hypercholesterolemia, hypertriglyceridemia and high apolipoprotein B values) and by a partial duplication of the short arm of the third chromosome: 46,XX, dup(3)(p26-pter). This chromosomal alteration appears "de novo", as the parent's karyotypes are normal and none of the patient's next of kin showed evidence of lipidic anomalies. The patient's short height and slight frontal bossing were the only features that could be described as typical of the dup3p syndrome.
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2/12. Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.

    In this paper, we describe a baby male born to healthy non-consanguineous parents presenting at birth with hypotonia and seizures. Additional salient clinical features included the development of glaucoma, the absence of significant facial dysmorphism and the absence of liver enlargement or renal cysts. The patient died at the age of 3 months. At autopsy, liver fibrosis and kidney glomerulosclerosis were noted. Neuropathological findings included pachygyria of the olivary nuclei and cerebellar neuronal heterotopias. There was no evidence for a demyelinating process. Biochemically, the patient was found to have elevated plasma levels of very-long-chain fatty acids (VLCFA) and abnormal bile acid intermediates, whereas other indicators of peroxisomal function (plasmalogen biosynthesis and plasma pipecolic acid) were normal. catalase staining of a liver biopsy specimen revealed peroxisomes to be present in normal numbers, although some were abnormally large. Trilamellar inclusions typical of a peroxisomal fatty acid oxidation defect were present in macrophages. Indeed, beta-oxidation of the very-long-chain fatty acid hexacosanoic acid (C26:0) was found to be strongly deficient. Fatty acyl-coa oxidase activity in the patient's liver was normal, however. Furthermore immunocytochemical studies using antibodies against acyl-coa oxidase, bifunctional protein and peroxisomal thiolase, revealed the normal localization of all three enzyme proteins within the peroxisomes. We suggest that our patient has a selective peroxisomal beta-oxidation defect, a recently identified heterogeneous group of early-onset peroxisomal disorders distinct from the zellweger syndrome and other generalized peroxisomal disorders.
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keywords = macrophage
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3/12. Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.

    An infant presented with multifocal myoclonus and cyanotic hypoxemia immediately after birth, and severe feeding problems, a protein-losing enteropathy, massive ascites and grand-mal epilepsy marked his rapid downhill course, with death at 17 weeks. At 2 weeks, brain MRI revealed grey matter heterotopias in the parieto-occipital regions suggestive of a cortical morphogenetic disorder. In cultured skin fibroblasts, lipid storage and reduced activities of ceramidase, galactosylceramide beta-galactosidase and glucosylceramide beta-glucosidase were evident. autopsy disclosed generalised lysosomal lipid storage with macrophages and adrenal cortex prominently affected. The pattern of stored lipids in cultured fibroblasts and in dewaxed spleen tissue blocks was compatible with a diagnosis of prosaposin (pSap) deficiency (pSap-d). Neuropathologically, there was a pronounced generalised neurolysosomal storage combined with a severe depletion of cortical neurons and extreme paucity of myelin and oligodendroglia. This pathology, in particular the massive neuronal loss, differed from that in other neurolipidoses and could be explained by the reduced hydrolysis of multiple sphingolipids and the loss of pSap's neurotrophic function. The absence of immunostainable saposins on tissue sections and the presence of a homozygous c.1 A > T mutation in the prosaposin gene confirmed the diagnosis. PSap-d may be an underdiagnosed condition in infants with severe neurological and dystrophic signs starting immediately after birth.
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4/12. Cholesteryl ester storage disease: a patient with massive splenomegaly and splenic abscess.

    Cholesteryl ester storage disease (CESD), a rare lysosomal storage disorder characterized by functional deficiency of acid lipase activity, classically features hepatomegaly in conjunction with lipid-laden macrophages containing excessive quantities of cholesteryl esters. We present a patient whose clinical course was complicated by massive, symptomatic splenomegaly, and an unsuspected splenic abscess. Computed tomographic and magnetic resonance imaging are correlated. Histologic, electron microscopic, and biochemical features are presented. To our knowledge, this is the first report of splenic abscess in CESD.
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keywords = macrophage
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5/12. Cholesteryl ester storage disease: pathologic changes in an affected fetus.

    The prenatal diagnosis of cholesteryl ester storage disease, a rare autosomal recessive disorder, was made by demonstration of deficient lysosomal acid lipase activity in cultured amniocytes from an at-risk fetus. The histochemical and ultrastructural changes in the affected fetus (at 17 gestational weeks) are described and compared to findings in liver and duodenal biopsy specimens from a 9-year-old homozygous female. Massive lysosomal cholesterol and lipid accumulation was demonstrated in fetal hepatocytes, adrenal cells and syncytiotrophoblasts. Of particular note was the observation of extensive necrosis in the fetal adrenal glands. necrosis of the adrenals may precede the calcification observed in some patients with cholesteryl ester storage disease and in most patients with wolman disease, an allelic variant due to lysosomal acid lipase deficiency. fibrosis of the liver and lipid accumulation in macrophages in liver and duodenum, which were present in the 9-year-old homozygote, were not observed in the affected fetus, and therefore, may represent later manifestations of the disease.
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keywords = macrophage
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6/12. Dysplasia of the lymphatics with lymphoedema, generalized lymphangiectasis, chylothorax and "pseudo-storage-disease".

    A patient showing an unusual association of various abnormalities of the lymphatic vascular system is reported. These abnormalities became first evident in early childhood and consisted of lymphoedema of the left leg, lymphangiectasis in various organs and occlusion of the thoracic duct at its entrance into the venous angle. Chylous effusions and subcutaneous chyloedema appeared in adolescence. Diagnostic biopsies of spleen, liver and bone-marrow revealed the presence of multiple foamcells, suggesting the diagnoses of lipid storage disease. The patient died from severe honeycomb-lungs at the age of 20. This case cannot be attributed to one of the wellknown disease entities of the lymphatic system. The "pseudo"-storage disease is regarded as secondary to the backflow of chylus into the tissues.
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7/12. Membranous lipodystrophy of bone.

    A 23-year old man with a fracture of the right lateral malleolus was found to have osteolytic lesions of the lower end of both fibulas and of the right talus. He was mentally defective from birth, with convulsions from the age of 4 years and a limp since the age of 15. biopsy tissue from the right fibula that was removed one year after the fracture consisted of marrow adipose tissue that had been transformed by the development of thick, convuluted PAS positive membranes around the cells. Electron microscopy indicated that each membrane had a complex, microvillous substructure. At the time of biopsy, lytic lesions were found in both femoral medial condyles and, one year later, in the distal shaft of the left radius. Membranous lipodystrophy is a rare, generalized, skeletal disease that was previously reported in finland and japan, and is usually followed by progressive presenile dementia.
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keywords = bone
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8/12. cholesterol ester storage disease in an adult presenting with sea-blue histiocytosis.

    An adult patient is described with hepatomegaly and sea-blue histiocytes in the bone marrow. A diagnosis of cholesterol ester storage disease was established following enzyme and lipid analyses on liver biopsy and cultured skin fibroblasts. Acid esterase activity was deficient (approx. 5% of controls) in liver and fibroblasts using [14C]-triolein or 4-methylumbelliferyl palmitate as substrates. Cholesterol ester levels were raised about 70-fold in liver, whereas triglyceride levels were only marginally raised. Marked accumulation of cholesterol esters was also demonstrated in cultured fibroblasts. Clinically, the patient responded favourably to phenobarbitone treatment. However, this was not reflected in liver acid esterase or lipid levels.
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9/12. Successful treatment of familial idiopathic lipid storage myopathy with L-carnitine and modified lipid diet.

    We describe the clinical presentation, course, pathologic findings, and biochemical abnormalities found in three adult siblings with an idiopathic lipid storage myopathy. The major presenting symptoms were weakness and cramping, which were profound in one patient, moderate in the second patient, and mild in the third. All three individuals exhibited true myotonic discharges on EMG, normal or mildly depressed muscle free carnitine levels, and borderline delayed ketosis (40 hours) with fasting. Muscle biopsies from all three showed neutral lipid storage. Polymorphonuclear leukocytes and macrophages were vacuolated. No systemic abnormalities of glucose or fat metabolism were identified at rest, with fasting, or with exercise. The two more severely affected patients have responded to medium-chain triglyceride diet and oral carnitine with increased strength and muscle bulk and decreased histochemically observed neutral lipid stores in muscle. One patient has had a resolution of the electrical myotonia. prednisone therapy in one patient resulted in a loss of cramping sensations but not improvement in strength. We suggest that some cases of idiopathic lipid storage myopathy may be safely and effectively treated with carnitine and medium-chain triglyceride diet.
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ranking = 1786.1928229098
keywords = macrophage
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10/12. Wolman's disease: clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification.

    A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
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