Cases reported "Bone Diseases, Metabolic"

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11/30. Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder?

    In this report, we describe three unrelated children with an apparently novel bone fragility disorder that is associated with an idiopathic mineralization defect. Recurrent lower limb fractures started with weight bearing. The patients had none of the phenotypic, radiological, or histomorphometric features classically associated with known bone fragility disorders such as osteogenesis imperfecta (OI), idiopathic juvenile osteoporosis (IJO), or mild autosomal dominant osteopetrosis. Radiologically, there was increased metaphyseal trabeculation, normal to increased cortical thickness, and no evidence of rickets or osteomalacia. Areal and volumetric bone mineral density (BMD) of the lumbar spine did not show any major alteration. Peripheral quantitative computed tomography of the radius showed elevated cortical thickness and total and trabecular volumetric bone mineral density in one patient. Qualitative histology of iliac bone biopsy specimens showed a paucity of the birefringent pattern of normal lamellar bone. Quantitative histomorphometric analysis demonstrated osteomalacia with a prolonged mineralization lag time in the presence of a decreased mineral apposition rate. There was no biochemical evidence of abnormal calcium or phosphate metabolism. Type I collagen mutation analysis was negative. We conclude that this is a bone fragility disorder of moderate severity that tends to cause fractures in the lower extremities and is associated with the accumulation of osteoid due to an intrinsic mineralization defect. The pathogenetic basis for this disorder remains to be elucidated.
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ranking = 1
keywords = defect
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12/30. Mucolipidosis II presenting as severe neonatal hyperparathyroidism.

    Mucolipidosis II (ML II or I-cell disease ) (OMIM 252500) is an autosomal recessive lysosomal enzyme targeting disorder that usually presents between 6 and 12 months of age with a clinical phenotype resembling Hurler syndrome and a radiological picture of dysostosis multiplex. When ML II is severe enough to be detected in the newborn period, the radiological changes have been described as similar to hyperparathyroidism or rickets. The biological basis of these findings has not been explored and few biochemical measurements have been recorded. We describe three unrelated infants with ML II who had radiological features of intrauterine hyperparathyroidism and biochemical findings consistent with severe secondary neonatal hyperparathyroidism (marked elevation of serum parathyroid hormone and alkaline phosphatase levels). The vitamin D metabolites were not substantially different from normal and repeatedly normal calcium concentrations excluded vitamin d deficiency rickets and neonatal severe hyperparathyroidism secondary to calcium-sensing receptor gene mutations (OMIM 239200). The pathogenesis of severe hyperparathyroidism in the fetus and newborn with ML II is unexplained. We hypothesize that the enzyme targeting defect of ML II interferes with transplacental calcium transport leading to a calcium starved fetus and activation of the parathyroid response to maintain extracellular calcium concentrations within the normal range. CONCLUSION: Newborns with mucolipidosis II can present with radiological and biochemical signs of hyperparathyroidism. awareness of this phenomenon may help in avoiding diagnostic pitfalls and establishing a proper diagnosis and therapy.
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keywords = defect
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13/30. A rare case of Gitelman's syndrome presenting with hypocalcemia and osteopenia.

    Gitelman's syndrome (GS), an autosomal recessive disorder caused by a defect of the thiazide-sensitive Na-Cl cotransporter (TSC) at the distal tubule, is characterized by hyperreninemic hyperaldosteronism with normal or low blood pressure, hypokalemia, metabolic alkalosis, hypomagnesemia and hypocalciuria. An 18-yr-old Japanese man was admitted to our hospital with a history of muscle weakness and transient tetanic episodes. He showed hypocalcemia in addition to hypokalemia, severe hypomagnesemia, hypocalciuria and hyperreninemic hyperaldosteronism with normal blood pressure. Furthermore, bone mineral density at the lumbar spine revealed osteopenia. A diagnosis of GS was made on the basis of clinical features, laboratory data and renal function test. The electrolyte imbalance was corrected and bone mineral density was slightly increased with chronic treatment of magnesium and potassium salts. Genetic analysis revealed that TSC gene of the patient has a heterozygous C to A nucleotide substitution at position 545 in exon 4, which causes a threonine (Thr) to lysine (Lys) substitution at position 180. This is a rare case of GS with hypocalcemia and osteopenia which could be caused by severe hypomagnesemia.
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ranking = 0.16666666666667
keywords = defect
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14/30. Skeletal dysplasias with osteopenia in the newborn: the value of alkaline phosphatase.

    alkaline phosphatase is a commonly measured enzyme in clinical practice. Normal, excessively elevated and depressed serum or plasma levels have clinical value in the approach to the differential diagnosis of skeletal dysplasias associated with osteopenia in the newborn period. Two cases are described to illustrate this contention. In the first case we describe a neonate with congenital hypophosphatasia and markedly depressed levels of plasma alkaline phosphate, and in the second case we report a patient with a fracture of the femur, congenital rickets and an elevated alkaline phosphate level. In skeletal dysplasias with osteopenia, the nature of the abnormality in alkaline phosphate values, in association with that of calcium and phosphate, is an invaluable diagnostic aid in differential diagnosis.
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ranking = 155.5589617771
keywords = dysplasia
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15/30. hypocalcemia, hypovitaminosis d osteopathy, osteopenia, and secondary hyperparathyroidism 32 years after jejunoileal bypass.

    OBJECTIVE: To detail, for the first time, the results of bone histomorphometry, micro-computed tomography, and the calcium-vitamin D-parathyroid hormone (PTH) axis in a unique patient 32 years after undergoing a jejunoileal bypass (JIB) procedure for obesity. methods: A case report is presented, serial results of serum chemistry studies before and after treatment are outlined, and histomorphometric data on a bone biopsy specimen are summarized. RESULTS: In a 65-year-old woman with chronic lymphedema who had undergone JIB >3 decades earlier, baseline serum studies showed the following: total calcium, 6.2 mg/dL (normal, 8.5 to 10.5); ionized calcium, 0.87 mmol/L (normal, 1.15 to 1.35); creatinine, 1.3 mg/dL (normal, 0.6 to 1.0); albumin, 2.0 g/dL (normal, 3.0 to 5.0); magnesium, 1.0 mg/dL (normal, 1.5 to 2.1); phosphorus, 3.1 mg/dL (normal, 2.5 to 4.5); potassium, 3.1 mEq/L (normal, 3.5 to 5.0); alkaline phosphatase, 204 U/L (normal, 50 to 136); PTH, 311 pg/mL (normal, 10 to 60); 25-hydroxyvitamin D, <7 ng/mL (normal, 10 to 60); and 1,25-dihydroxyvitamin D, 37 pg/mL (normal, 25.1 to 66.1). Histomorphometry of an undecalcified iliac crest bone biopsy specimen demonstrated increased osteoid surface of 59.4% (Z-score = 5.6), increased mineralization lag time of 90.1 days (Z-score = 2.96), decreased adjusted apposition rate of 0.05 mm3/mm2/yr (Z-score = -2.45), but increased volume-based bone formation rate of 0.715 mm3/mm3/yr (Z-score = 2.0). tetracycline labeling was diffuse and smudged, and the osteoblast-osteoid interface was decreased, indicating a mineralization defect. Increased cortical porosity, but no evidence of significant marrow fibrosis, was noted, whereas cancellous bone volume was decreased to 15.2% (Z-score = -0.92). Micro-computed tomography of bone biopsy specimens confirmed both increased cortical porosity and decreased cancellous bone volume. Vitamin D and calcium therapy resulted in near-normal or low-normal levels of 25-hydroxyvitamin D and calcium and improvement in PTH and alkaline phosphatase levels during a 9-month period. CONCLUSION: Significant hypovitaminosis D osteopathy, osteopenia, and hypocalcemia attributable to vitamin d deficiency may remain a problem in patients with unreversed JIB operations after more than 3 decades. Clinicians should be aware of this important clinical problem.
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ranking = 0.16666666666667
keywords = defect
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16/30. Global developmental delay, osteopenia and ectodermal defect: a new syndrome.

    Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive behavioral symptoms such as temper tantrums, aggressiveness, poor concentration and attention, impulsiveness, and mental retardation). SETTING: Tertiary care hospital. patients: Three children (two male siblings, and one unrelated girl). methods: We used the results from clinical neurological evaluations; imaging and electrodiagnostic studies; metabolic and genetic tests; skin biopsies and bone mineral densitometry. All three children suffered from (A) global developmental delay, (B) osteopenia, and (C) identical skin defects. The skin ultrastructural abnormalities were abnormal keratin differentiation, consisting of hyperkeratosis and granular layer thickening; sweat gland abnormalities, consisting of focal, cytoplasmic clear changes in eccrine secretory cells; and melanocyte abnormalities, with both morphological changes (reduced number and size without evident dendritic processes), and functional changes (defects in the migration of melanosomes in the keratinocytes). These patients present a previously unrecognized syndrome. We retain useful to report this new association, to be recognized, in the next future, as a specific key-sign of a well-defined genetic defect.
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ranking = 32479.846422524
keywords = ectodermal defect, defect
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17/30. Panostotic fibrous dysplasia. A new craniotubular dysplasia.

    The authors describe the radiographic-scintigraphic features of an unusual craniotubular dysplasia characterized by diffuse osteopenia with bone expansion and a "ground glass" appearance, markedly increased skeletal turnover, myelofibrosis, hypophosphatemia, and pigmented "coast-of-maine" patches. This syndrome, termed panostotic fibrous dysplasia, is distinct from previously reported disorders.
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ranking = 259.26493629517
keywords = dysplasia
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18/30. A new case of Grange syndrome without cardiac findings.

    Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome.
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ranking = 0.16666666666667
keywords = defect
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19/30. Metaphyseal dysplasia of Braun-Tinschert type: report of a Japanese girl.

    We report on a 7-year-old Japanese girl with metaphyseal dysplasia (MD) of Braun-Tinschert type, a recently recognized, autosomal dominant sclerosing bone dysplasia. All individuals with the disorder from four families in the literature originated from a small town in Bohemia or its vicinity. The occurrence of the disorder in a Japanese girl indicates that it is not restricted to Germans. The radiographic hallmarks of the disorder include metaphyseal undermodeling (Erlenmeyer-flask deformity); osteosclerosis of the chondroosseous junctions, metaphyseal cortices, and epiphyseal margins; and exostosis-like bone excrescences at the metaphyseal-diaphyseal junctions. In the girl we described, the latter two findings were conspicuous at age 4 years, but became less prominent with increasing age. The metaphyseal trabeculae were somewhat coarse. The humeri exhibited varus deformity, and the ulnae and fibulae mild bowing. The mean bone mineral density of the lumbar spine was lower than that of age-matched controls. The patient exhibited premature loss of primary teeth, likely to be a sign of increased periodontal bone resorption. Markers of bone formation and resorption were both increased, an indication of a high rate of bone turnover.
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ranking = 155.5589617771
keywords = dysplasia
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20/30. Geroderma osteodysplastica. Report of a new family.

    We report a family in which geroderma osteodysplastica affected two male siblings. They showed the characteristic features associated with this syndrome: a prematurely aged face with wrinkly, lax skin, more prominent on the acral regions, associated with joint laxity, osteoporosis, and skeletal abnormalities. The main histologic abnormalities were fragmented elastic fibers that were diminished in number. Although collagen fibers showed changes in their orientation, they were normal in structure and number. We consider the differential diagnosis with other syndromes associated with cutis laxa using clinical, radiologic, and histopathologic criteria.
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ranking = 0.45571557990577
keywords = cutis
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