Lipidosis with sea-blue histiocytes. Report of two siblings with lung involvement.
Two siblings, an eight-year-old girl and a three-year-old boy with lipid storage disease, most likely non-neuropathic Niemann-Pick disease (NPD) with sea-blue histiocytes, are presented. Both of them had foamy and sea-blue histiocytes in their bone marrow smears and reticulo-nodular appearance of both lungs on their chest X-rays. Case 1 had diffuse, biopsy-proven, pulmonary involvement associated with sea-blue histiocytes. Although diffuse reticulo-nodular pulmonary infiltration of non-neuropathic NPD (type B) is frequently detected on chest X-rays, to our knowledge there is only one reported adult case of lipidosis resembling NPD in which severe pulmonary involvement associated with pigmented histiocytes and Niemann-Pick cells were demonstrated at autopsy.
Göğüş
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Hacettepe University Faculty of Medicine, Ankara.
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Kiper
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Küçükali
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D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006644:Histiocytes / Q000473:pathology*; D006801:Humans; D008064:Lipidoses / Q000150:complications / Q000473:pathology*; D008171:Lung Diseases / Q000150:complications / Q000473:pathology*; D008297:Male; D009542:Niemann-Pick Diseases / Q000473:pathology; D012618:Sea-Blue Histiocyte Syndrome / Q000473:pathology