Radiological and clinicopathological features of orbital xanthogranuloma.
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BACKGROUND: Orbital xanthogranuloma, a diagnosis confirmed histologically, occurs rarely in adults and children. With its characteristic macroscopic appearance the adult form may be associated with a spectrum of biochemical and haematological abnormalities including lymphoproliferative malignancies. METHOD: The clinicopathological features and imaging appearances on computed tomography and magnetic resonance imaging of this condition are described in eight adults and a child. RESULTS: Radiological evidence of proptosis was present in seven patients. In all nine patients an abnormal infiltrative soft tissue mass was seen, with increased fat in six cases. All patients had associated enlargement of extraocular muscles suggestive of infiltration and five had lacrimal gland involvement. Encasement of the optic nerve, bone destruction, and intracranial extension was present only in the child with juvenile xanthogranuloma. Haematological and/or biochemical abnormalities were detected in seven patients and seven patients had other systemic diseases which were considered to have an immune basis. One patient subsequently developed non-Hodgkin's lymphoma. CONCLUSION: The investigation and management of orbital xanthogranulomas requires a multidisciplinary approach even though the diagnosis may be suspected clinically. Imaging delineates the extent of disease and involvement of local structures and may influence the differential diagnosis. The juvenile form may be more locally aggressive, causing bone destruction with consequent intracranial extension. (+info)
Giant orbital and intracranial xanthogranuloma--a short report.
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Xanthogranuloma are known to arise in the paranasal sinus or orbit. They may also arise primarily in the brain. Those arising from the sinuses or orbit might involve the intracranial cavity to some extent. But an extensive involvement of the cranial compartment is very rare. This report describes one such case. (+info)
Outcome of liver disease in children with Alagille syndrome: a study of 163 patients.
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BACKGROUND AND AIMS: Various opinions have been expressed as to the long term prognosis of liver disease associated with Alagille syndrome (AGS). PATIENTS AND METHODS: We reviewed the outcome of 163 children with AGS and liver involvement, investigated from 1960 to 2000, the end point of the study (median age 10 years (range 2 months to 44 years)) being death, liver transplantation, or the last visit. RESULTS: At the study end point, of the 132 patients who presented with neonatal cholestatic jaundice, 102 remained jaundiced, 112 had poorly controlled pruritus, and 40 had xanthomas; cirrhosis was found in 35/76 livers, varices in 25/71 patients, and liver transplantation had been carried out in 44 patients (33%). Forty eight patients died, 17 related to complications of liver disease. Of 31 patients who did not present with neonatal cholestatic jaundice, five were jaundiced at the study end point, 17 had well controlled pruritus, and none had xanthomas; cirrhosis was found in 6/18 patients, varices in 4/11, and none underwent liver transplantation. Nine patients died, two of liver disease. In the whole series, actuarial survival rates with native liver were 51% and 38% at 10 and 20 years, respectively, and overall survival rates were 68% and 62%, respectively. Neonatal cholestatic jaundice was associated with poorer survival with native liver (p=0.0004). CONCLUSIONS: The prognosis of liver disease in AGS is worse in children who present with neonatal cholestatic jaundice. However, severe liver complications are possible even after late onset of liver disease, demanding follow up throughout life. (+info)
Cellular pathology of homozygous familial hypercholesterolemia.
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Tissues were studied from four subjects with homozygous familial hypercholesterolemia (FH). The specimens consisted of tissues obtained from a 20-week-old fetus at autopsy, samples from a 9-year-old girl during open-heart surgery, and biopsies of cutaneous xanthomas from a 13-year-old girl and a 21-year-old man. The FH fetus, but not the 3 control fetuses, exhibited multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus. A segment of the ascending aorta from the 9-year-old girl showed: 1) foam-cell transformation of many medial smooth-muscle cells, 2) abnormal vascularization of the inner media and intima, and 3) intimal involvement by a typical artherosclerotic plaque with lipid deposits in thin, elongated cells that showed some myocytic features and in foam cells that lacked such features. The mitral and aortic valves of this patient also contained numerous foam cells and showed mild to moderate fibrous thickening. A segment of the saphenous vein, however, contained no lipid deposits. The three xanthomas from two FH homozygotes exhibited marked lipid accumulation in histiocytic foam cells but no lipid deposits in the endothelium of blood vessels in the lesions. The findings in this study, in conjunction with those reported in studies of other FH homozygotes, indicate that homozygous FH is characterized by accelerated atherosclerosis and prominent lipid accumulation in macrophages and other stromal cells of the aortic and mitral valves, skin, tendon, and, varibly, in other extravascular sites. Since most of the intracellular lipid was in the form of non-membrane-bound neutral lipid droplets, it appears that the cytoplasm is the major site of lipid storage in this disease. (+info)
Solitary intramuscular nasal Juvenile Xanthogranuloma: a case report with review of literature.
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Juvenile Xanthogranuloma is a non-langerhans cell histiocytosis characterized by yellowish cutaneous nodules that usually appear in early infancy and childhood. Intramuscular variant is a rare form, with only eight reported cases, and none reported in ala of nose. Sheets of histiocytes, few touton giant cells and infiltrative borders makes it susceptible to misdiagnosis as childhood sarcomas or lymphoproliferative disorders. Awareness of the lesion aided by immunohistochemistry helps in reaching the proper diagnosis. (+info)
Juvenile xanthogranuloma as an isolated corneoscleral limbal mass: a case report.
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A case of a juvenile xanthogranuloma of the corneoscleral limbus was encountered in a 5-year-old oriental boy, who presented with a 5-month history of a lump in the right eye. The lesion extended from the inferior limbus. This yellow-orange mass was vascular and firmly fixed to the underlying tissue. The lesion was diagnosed preoperatively as an atypical dermolipoma and an uneventful excisional biopsy was performed. The pathologic diagnosis showed the characteristic picture of a juvenile xanthogranuloma with numerous Touton giant cells. Dermoid and lipodermoid tumors, as a corneoscleral limbal mass, are the most frequently encountered in childhood. A juvenile xanthogranuloma is a rare and usually benign skin disease with an unknown cause, which occurs in infants and young children. However, it can occur also as a corneoscleral limbal mass in young children. (+info)
A boy with autosomal recessive hypercholesterolaemia.
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We describe a 9-year-old Iranian boy with tuberous xanthomas, elevated LDL-cholesterol levels of 15.5 mmol/l, and vague complaints of chest pain while playing soccer. The consanguineous parents of the boy had normal cholesterol concentrations, which indicated an autosomal recessive disorder rather than autosomal dominant familial hypercholesterolaemia. The diagnosis of autosomal recessive hypercholesterolaemia (ARH) was confirmed by the presence of a mutation in the phosphotyrosine binding domain of a putative adaptor protein, which prevents normal internalisation of the LDL receptor (LDLR) in the liver. The clinical phenotype of ARH is similar to that of classical homozygous familial hypercholesterolaemia caused by defects in the LDLR gene, but it is more variable, generally less severe, and more responsive to lipid-lowering therapy. The patient's complaints of chest pain were not caused by ischaemia as was tested by an exercise and 24-hour electrocardiogram and by a myocardial perfusion scan. His LDL-C dropped by about 6o% after being treated with a combination of 40 mg atorvastatin and 10 mg ezetimibe. (+info)
Bilateral spontaneous hyphema in juvenile xanthogranuloma.
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This report describes a rare occurrence of bilateral, spontaneous, nontraumatic hyphema in a 6 weeks old infant, associated with a small, multiple skin lesions. The diagnosis of juvenile xanthogranuloma was confirmed by histopathological examination of the cutaneous lesions. The hyphaema cleared gradually in 2 weeks time with conservative management. (+info)