Cases reported "Calcinosis"

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11/88. osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.

    Deficiency of carbonic anhydrase ii (CA II) isoenzyme produces metabolic disorders of bone, kidney and brain. In this report we describe the clinical, radiological, pathological and genetic findings in three brothers who were affected with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis (RTA) and cerebral calcification. The RTA was hybrid type, but urinary concentration ability was intact. Additional features were severe mental retardation, stunted growth, microcephaly, dental malocclusion, high-arched palate, and broad thumbs. Previous reported patients with this syndrome were predominantly from the middle east and mediterranean region. This is the first report with CA II deficiency from the Turkish population. The presence of mental retardation and relative infrequency of skeletal fractures in our patients resembles the clinical course of patients with the Arabic mutation of the CA II gene, but this mutation was not found in our patients.
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ranking = 1
keywords = dominant
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12/88. Hypothalamic digoxin related membrane Na -K ATPase inhibition and familial basal ganglia calcification.

    The isoprenoid pathway produces three key metabolites-digoxin (membrane sodium-potassium ATPase inhibitor and regulator of intracellular calcium-magnesium ratios), dolichol (regulator of N-glycosylation of proteins) and ubiquinone (free radical scavenger). The pathway was assessed in a rare and specific type of familial basal ganglia calcification described. The family had a coexistence of basal ganglia calcification (six out of 10 cases), schizophrenia, Parkinson's disease, Alzheimer's disease, rheumatoid arthritis, systemic tumours and syndrome X and were all right hemispheric dominant. The isoprenoid pathway was also studied for comparison in right hemispheric dominant, bihemispheric dominant and left hemispheric dominant individuals. The isoprenoid pathway was upregulated with increased digoxin synthesis in familial basal ganglia calcification. Membrane sodium-potassium ATPase inhibition can lead on to increase in intracellular calcium and calcification of the basal ganglia. There was increase in tryptophan catabolites and a reduction in tyrosine catabolites. There was also an increase in dolichol and glycoconjugate levels with reduced lysosomal stability in these patients. The ubiquinone levels were low and free radical levels increased. The cholesterol-phospholipid ratio was increased and glycoconjugate level of the RBC membrane reduced in these group of patients. No significance difference was noted in family members with and without basal ganglia calcification. This findings were correlated with the pathogenesis of syndrome X, immune mediated diseases, degenerations, tumours and psychiatric disorders noted in the familial basal ganglia calcification described. The biochemical patterns obtained in familial basal ganglia calcification correlated with those in right hemispheric dominance.
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ranking = 4
keywords = dominant
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13/88. Pilocytic astrocytoma of a spinal nerve root. Case report.

    A case of pilocytic astrocytoma involving a spinal nerve root is reported. A 39-year-old woman presented with a 1-year history of progressive pain and numbness, predominantly in the S-1 dermatome. Magnetic resonance (MR) imaging revealed an intradural lesion at the tip of the conus medullaris. The intradural tumor was excised as was the sacrificed nerve root. Histological examination showed a pilocytic astrocytoma in which there were unusual features of calcification and ossification. At 3-year follow-up review MR imaging demonstrated no residual tumor. To the best of the authors' knowledge, this is the first case of a primary pilocytic astrocytoma, a tumor typically of central nervous system origin, arising from a spinal nerve root.
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ranking = 1
keywords = dominant
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14/88. Cervical spinal cord compression attributable to a calcified intervertebral disc in a patient with X-linked hypophosphatemic rickets: case report and review of the literature.

    OBJECTIVE AND IMPORTANCE: X-linked hypophosphatemic rickets is a common inherited phosphate-wasting disorder, but it is a rare cause of spinal cord compression. We present the first reported case of a calcified intervertebral disc causing spinal canal stenosis in X-linked hypophosphatemic rickets. CLINICAL PRESENTATION: A 44-year-old woman presented with paresthesia of her left arm and a loss of grip in both hands. magnetic resonance imaging revealed a calcified intervertebral disc, as well as a posterior osteophytic bar causing marked cervical cord compression at C6/C7. INTERVENTION: An anterior cervical discectomy at C6/C7 and fusion with autologous bone graft were performed. The patient then exhibited significant improvement. CONCLUSION: A review of the 16 published cases demonstrates that thickening of the vertebral laminae, facet joint hypertrophy, and ossification of the intervertebral discs, posterior longitudinal ligament, and/or ligamentum flavum contribute to spinal canal stenosis in X-linked hypophosphatemic rickets. Those changes are caused by the disease itself and are unlikely to be related to long-term vitamin d treatment. Eleven of 16 patients were reported to have experienced favorable outcomes after surgery.
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ranking = 126505.51500838
keywords = hypophosphatemic rickets, hypophosphatemic, rickets
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15/88. Symptom changes caused by movement of a calcified lateral ventricular meningioma: case report.

    BACKGROUND: Large calcified psammomatous meningioma in the left lateral ventricle with a long silent interval of 16 years was presented. The symptoms varied by its moving not enlargement, which was described by sequential images of the brain computer tomography. Combined approaches of transcallosal and transinferior temporal sulcus routes were superior to prevent injury of the speech center in the dominant hemisphere.
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ranking = 1
keywords = dominant
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16/88. Neuroradiologic and clinical abnormalities in dementia of diffuse neurofibrillary tangles with calcification (Kosaka-Shibayama disease).

    We describe a characteristic dementia patient diagnosed as diffuse neurofibrillary tangles with calcification (DNTC). Neuropsychologically, dementia, including a decline in memory retention and intelligence, and anomic aphasia were recognized. Imaging revealed circumscribed temporal dominant atrophy and calcification of the basal ganglia and cerebellum. SPECT and FDG-PET revealed a remarkable reduction of blood flow and metabolism in the temporal lobes; however, there is no reduction in the basal ganglia and cerebellum, and FDOPA-PET also disclosed no abnormalities. This suggests that calcification and neuronal degeneration occur independently in DNTC.
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ranking = 1
keywords = dominant
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17/88. Familial idiopathic brain calcification--a new and familial alpha-synucleinopathy?

    Familial idiopathic brain calcification (FIBC) is a rare disorder characterised by autosomal dominant transmission, adult onset cerebellar and/or extrapyramidal features and idiopathic calcification of the brain. We present a family with FIBC where pathological studies showed that the proband had alpha-synuclein-immunopositive glial and neuronal cytoplasmic inclusions in oligodendrocytes in the putamen, midbrain and pons. This may represent a new and familial alpha-synuclein disorder causing a predominantly extrapyramidal picture similar to multisystem atrophy.
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ranking = 2
keywords = dominant
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18/88. Tumoral calcinosis of the gluteal region in a child: case report with overview of different soft-tissue calcifications.

    Tumoral calcinosis is a distinct clinical and histologic entity that is characterized by a large deposition of calcium that resembles a neoplasm and is found predominantly in adolescents and young adults in the periarticular tissues of large joints. The authors describe the clinical presentation of a 15-year-old boy admitted at our pediatric day-surgery center for surgical management of tumoral calcinosis of the left gluteal region. Complete surgical excision is the treatment of choice.
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ranking = 1
keywords = dominant
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19/88. ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome).

    Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-Hunermann syndrome. We present two newborns with characteristic ichthyosiform erythroderma noted at birth. Radiographs demonstrated chondrodysplasia punctata in one patient. Although the x-ray performed at birth was negative in the other patient, sterol analyses of the keratotic scales were diagnostic for CDPX2. skin biopsies from both patients showed thick laminated orthokeratosis and prominent keratotic follicular plugs containing dystrophic calcification. We also retrospectively examined 20 cases of various types of ichthyosis seen over a 23-year period at our institution. Intracorneal calcium deposition was not seen in any of these cases. As demonstrated by our cases and review of the literature, dystrophic calcification in the keratotic plug is a distinctive histopathologic feature of Conradi-Hunermann-Happle syndrome in newborns and is not seen in other known forms of ichthyoses.
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ranking = 24.47015625
keywords = x-linked, dominant
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20/88. Metachondromatosis: a report of two cases in a family.

    We have described a 10-year-old Japanese boy and his father with metachondromatosis characterized by multiple exostoses, enchondromas, and periarticular calcification or ossification and reviewed the literature on this condition. The boy developed bilateral epiphyseal changes in the hips mimicking Perthes' disease. These cases are the first Japanese individuals with this disorder. The natural history and the associated disorders of metachondromatosis are also discussed in this paper. Metachondromatosis is an inherited skeletal dysplasia characterized by multiple cartilaginous exostoses, multiple enchondromas, and periarticular calcification or ossification. The mode of inheritance of the disease is autosomal dominant. In 1971, Maroteaux first described the disorder in 6 patients of 2 kindreds. Since then, 22 cases have been reported. However, no Japanese patient with this disorder has been described to date. We herein report a Japanese boy and his father with this rare bone dysplasia. The boy developed bilateral epiphyseal lesions in the femoral heads mimicking Perthes' disease.
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ranking = 1
keywords = dominant
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