1/91. Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report.This report concerns a 10-month-old boy, admitted to the veterans General Hospital-Kaohsiung with generalized tonic convulsion and aspiration pneumonia. He was found to have had developmental regression, progressive hypotonia and hepatosplenomegaly since four months of age. physical examination revealed a large head circumference (97th percentile), frontal bossing, depressed nasal bridge, hepatosplenomegaly, broad hands and short fingers. neurologic examination showed poor control of eye movement, profound hypotonia, muscle weakness, brisk deep tendon reflexes and Babinski's sign. Hypoplasia of the vertebral bodies with anterior beaking, wedge-shaped metacarpals, spatulated ribs and a J-shaped sella turcica were displayed on bone radiographs. Cranial computerized tomography scans showed diffuse brain atrophy, dilated ventricles and calcification of the bilateral basal ganglia. Vacuolated lymphocytes were noted in a peripheral blood smear. Type 1 GM1 gangliosidosis was diagnosed based on a deficiency of beta-galactosidase activity. To our knowledge, basal ganglia calcification in type 1 GM1 gangliosidosis has never been reported in the literature. We suggest that type 1 GM1 gangliosidosis be considered in the differential diagnosis of patients with an early onset of neurologic decline, organomegaly and basal ganglia calcification.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
2/91. Renal cell carcinoma with massive osseous metaplasia and bone marrow elements.Focal calcifications are frequently seen in renal masses and may be present in renal cell carcinomas. Metaplastic bone formation, on the other hand, is a rare event. We report a unique case of a large calcified renal cell carcinoma with massive osseous metaplasia and bone marrow elements. The clinical and pathologic differential diagnosis for this tumor is discussed along with a review of the literature on this unusual phenomenon.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
3/91. The role of bone scanning in the detection of metastatic calcification: a case report.Metastatic calcification associated with renal failure is well described. Bone scanning agents accumulate to various degrees within extraskeletal sites of metastatic calcification. The authors describe a patient with polycystic kidney disease resulting in renal failure, with the subsequent development of secondary hyperparathyroidism and metastatic calcification. Bone scintigraphy revealed abnormal uptake in both lungs, the right leg, and the right hand.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
4/91. A case of a calcified renal cyst.Authors review a case of a calcified renal cyst. The literary data at hand give evidence that the spreading processes in the kidney can be benign or malignant according to their form of calcification and their localisation. Despite the modern diagnostic techniques, it is not easy to set up the diagnosis or to avoid the need for surgery, as was the case in the present report.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
5/91. Idiopathic tumoral calcinosis associated with congenital malformation of the hand. Case report.The authors describe a case of tumoral calcinosis of the hand in a three-year-old child, involving the digits and carpus, and associated with ectrodactyly. The clinical features, diagnostic imaging procedures, particularly radiography and MRI, and therapeutic approach, in most cases radical excision, of this rare soft tissue tumour are discussed.- - - - - - - - - - ranking = 5keywords = hand (Clic here for more details about this article) |
6/91. Familial systemic lupus erythematosus and congenital infection-like syndrome.We present two siblings with congenital and progressive encephalopathy associated with systemic lupus erythematosus. The two brothers presented soon after birth with an encephalopathy associated with intracranial calcification (=2), intrauterine growth retardation (= 2), hepatitis (= 1) and thrombocytopenia (= 1), mimicking a congenital virus infection. Within the first year of life both children developed hypocomplementaemia and systemic lupus erythematosus (SLE), the main features of which were a discoid lupus-like rash on the hands and feet and the progressive production of high levels of autoantibodies. Both children were severely handicapped and died in early childhood from streptococcal infections. There are many causes of congenital encephalopathy with intracranial calcification. The early development of systemic lupus in these children suggested that their cerebral disease formed part of an autoimmune process. Complement levels and autoantibody profiles should be considered part of the investigation of a child with congenital infection-like syndrome, particularly when there are progressive dermatological complications.- - - - - - - - - - ranking = 2keywords = hand (Clic here for more details about this article) |
7/91. Dystrophic calcinosis in a child with a thumb sucking habit: case report.We present an uncommon case of a 3-year-old boy with a finger sucking habit who developed dystrophic calcification in his left thumb. Two years after excision, there was no recurrence, and the thumb retained full range of motion. We also discuss its probable pathogenesis and present a brief review of the literature about orthopedic complications in the hand due to this habit.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
8/91. Idiopathic tumoral calcinosis of the index finger. Case report.Tumoral calcinosis of the hand is rare, and we present a case report of idiopathic tumoral calcinosis of the index finger, which posed a diagnostic problem as it looked like an infection. We successfully removed the calcific deposit and there had been no recurrence one year after the operation.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
9/91. Calcifying aponeurotic fibroma features seen on fine-needle aspiration biopsy: case report and brief review of the literature.Calcifying aponeurotic fibroma is a rare benign soft tissue proliferation, which occurs in the distal extremities in children. We describe a case of calcifying aponeurotic fibroma of the hand in a 9 year-old male diagnosed by FNA. Clinically and radiographically this mass was felt to be suspicious for sarcoma, likely alveolar rhabdomyosarcoma. Cytologic examination revealed benign appearing spindled cells, chondroid cells, multinucleated giant cells and calcific debris. These features recapitulate the classic histologic features of calcifying aponeurotic fibroma. Conservative excision was performed and histologic exam confirmed the diagnosis. To the authors' knowledge, this is the first description of the cytologic features of this entity.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
10/91. Periarticular calcinosis associated with anti-Jo-1 antibodies sine myositis. Expanding the clinical spectrum of the antisynthetase syndrome.We describe a 58-year-old woman who developed interstitial lung disease (ILD), polyarthritis, and anti-Jo-1 antibodies, with no clinical evidence of myositis. Despite successful treatment with corticosteroid and azathioprine for her arthritis and pulmonary condition, she developed deforming arthropathy of the hands, with periarticular calcinosis. The association of anti-Jo-1 antibodies, ILD, and periarticular calcinosis with subluxing arthropathy sine myositis is rare, with few cases reported. This report expands the clinical spectrum of the antisynthetase syndrome, which is broader than previously reported.- - - - - - - - - - ranking = 1keywords = hand (Clic here for more details about this article) |
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