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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal primary hyperparathyroidism is a life-threatening disease because of marked hypercalcemia and severe respiratory distress caused by the hypoplastic thorax and occasional rib fractures. We report a 29-day-old girl treated by total parathyroidectomy and simultaneous autotransplantation of parathyroid tissue (one fifth of each of the two glands) in the femoral quadriceps muscle near the groin. At the time of operation, all four of the parathyroid glands were markedly enlarged, and their total weight was 900 mg. Part of the resected parathyroid tissue was cryopreserved for further autotransplantation should hypoparathyroidism develop. Two years six months after surgery, the infant was well and had normal levels of serum calcium and immunoreactive parathyroid hormone in the absence of any supplementary treatment. Asymptomatic hypercalcemia in the presence of abnormally low fractional excretion of calcium was found in the father. Based on our experience and review of the literature, we recommend total parathyroidectomy, autotransplantation, and cryopreservation for the neonate with primary hyperparathyroidism.
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PMID:Severe primary hyperparathyroidism in a neonate having a parent with hypercalcemia: treatment by total parathyroidectomy and simultaneous heterotopic autotransplantation. 223 75

A newborn with important signs of fetal disturbance and respiratory distress and respiratory distress developed plaques on both buttocks 14 days after birth, with the clinical and histological characteristics of subcutaneous fat necrosis of the newborn. Fifteen days after the onset of the cutaneous signs, a discrete degree of hypercalcemia was detected. Its outcome was favorable due to the early establishment of a diet rich in medium-chain triglycerides and devoid of calcium and vitamin D. Sixteen cases of idiopathic hypercalcemia in newborn with subcutaneous fat necrosis have been reported of which 3 died. Serial serum calcium determinations should be made in such infants and they should be observed closely for signs and symptoms of hypercalcemia.
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PMID:Subcutaneous fat necrosis of the newborn and idiopathic hypercalcemia. 235 6

A 73-year-old patient suddenly became confused and comatose due to excessive hypercalcemia. He developed acute respiratory distress syndrome (ARDS) and died even though the hypercalcemic state had been brought under control with mithramycin. Autopsy disclosed an adenoma of the parathyroid gland and calcifications in lung and kidney tissues as well as hyaline membranes. The case illustrates the poor prognosis of hyperparathyroid crisis whenever organ damage is present.
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PMID:[Parathyroid crisis. Fatal course despite control of hypercalcemia with mithramycin]. 296 48

Primary hyperparathyroidism in the neonate is a rare and often fatal disorder. These infants typically display severe hypercalcemia, respiratory distress, muscular hypotonia, and skeletal demineralization. They are usually diagnosed within the first three months of life and have hyperplasia of the four parathyroid glands. Twenty-nine infants with primary hyperparathyroidism are reported in the literature. Mortality is 87.5% in medically managed patients and 24% in surgically managed patients. Surgical management has not been satisfactory, in that recurrent hypercalcemia has been encountered in most patients undergoing subtotal parathyroidectomy, and total parathyroidectomy has resulted in the need for lifelong calcium and vitamin D supplementation. We have recently cared for a term newborn female in whom the diagnosis of primary hyperparathyroidism was made clinically on the second day of life, and later was confirmed biochemically. The baby underwent neck exploration on the 11th day of life and was successfully treated with total parathyroidectomy and parathyroid autotransplantation. Although initially rendered eucalcemic, the infant subsequently developed recurrent hypercalcemia requiring the removal of some of the autograft. Currently, the child is more than 2 years following surgery, growing well, and off all medication. The world literature is reviewed in this report of one of the first and the youngest infants, to our knowledge, to undergo parathyroid autotransplantation. In view of its success in avoiding the complication of repeated neck exploration for recurrent hyperparathyroidism or the creation of permanent hypoparathyroidism, we recommend this surgical approach for the rare neonate with primary hyperparathyroidism.
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PMID:Primary hyperparathyroidism in infancy. 352 45

Hypotonia, neonatal respiratory distress with a chest wall deformity should arouse clinical suspicion to the diagnosis of primary hyperthyroidism. The most common signs at this age are hypercalcaemia, increased alkaline phosphatase, low TRPP and radiological changes especially in the hip. Radio-immunological assay of PTH and plasma concentrations of Vitamin D metabolites are important diagnostic aids but the interpretation of these results should take the clinical and familial context into consideration. Rapid bone structural changes, the resistance of the hypercalcaemia to usual therapeutic measures and the progression to rickets justify urgent surgical treatment. Nearly all cases are due to clear cell hyperplasia.
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PMID:[Congenital hyperparathyroidism. 3 cases]. 381 73

Neonatal primary hyperparathyroidism is rare but must be evoke during respiratory distress with thoracic deformity and hypercalcemia. The plasma immunoreactive parathyroid hormone level allows the diagnostic. This case, with diffuse hyperplasia of water-clear cells type, develops rickets of vitamin D deficiency before surgery. A large parathyroidectomy (7/8) was performed and the child is normo-calcemic 2 years after. The time of surgery is function of calcium level.
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PMID:[Neonatal primary hyperparathyroidism caused by clear cell hyperplasia]. 402 15

Hypophosphatasia represents an inborn enzymatic deficiency characterized by a reduced activity of alkaline phosphatase in serum and tissue and an increased urinary excretion of phosphoethanolamine. 278 cases have been described until the end of 1980. Based on the age of manifestation and the predominant clinical findings the following classification is possible: The prenatal form (49 cases) with caput membranaceum, skeletal deformities and respiratory distress has a mortality of 100%. The early infantile form (94 cases) shows rickets-like osseous anomalies, dystrophy, craniostenosis, nephrocalcinosis, mortality amounting to 40%. Diagnostic features of the infantile-juvenile form (112 cases) are premature loss of deciduous teeth, bone deformities, rickets-like findings, and short stature. Mortality is only 1%. The adult form (23 cases) often remains undiscovered and has a good prognosis. It presents with pseudofractures and pains in the bones as chief symptoms. Heredity is autosomal recessive in all four types of hypophosphatasia. Possibly in the adult form there is an additional autosomal dominant inheritance. Alkaline phosphatase deficiency affects all tissues excepting the intestinal isoenzyme. Urinary excretion of phosphoethanolamine is elevated. Values for calcium and inorganic phosphorus in serum are usually normal or only slightly increased. Marked hypercalcemia is observed in severely diseased patients affected by the early infantile form. In these cases hypercalcemia often leads to nephrocalcinosis and renal insufficiency. Since alkaline phosphatase is equally active as pyrophosphatase, reduced phosphatase activity induces an accumulation of pyrophosphate in serum and its increased excretion in urine. The precise pathogenetic mechanisms of hypophosphatasia are still unknown. Possibly, the accumulation of pyrophosphate implies a disorder of calcification. Postnatal diagnosis is based on clinical findings in association with decreased alkaline phosphatase activity and increased phosphoethanolamine excretion. For the detection of heterozygotes additional biochemical markers should be tested. These include the determination of alkaline phosphatase in leucocytes and cultured skin fibroblasts, the calculation of tubular phosphate reabsorption and the analysis of pyrophosphate and pyrophosphatases. The difficulty in ascertaining the carrier state is that the measurement of a single parameter may give normal results.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Congenital hypophosphatasia]. 614 51

We describe a girl with congenital hyperparathyroidism who presented soon after birth with respiratory distress, hypotonia, feeding difficulties, and bone deformities. Hypercalcaemia, hypophosphataemia, and raised alkaline phosphatase were present and plasma parathyroid hormone levels measured by radioassay and bioassay were raised. X-rays showed gross demineralisation with metaphyseal fractures, erosions, and sub-periostal reaction along the bones. Following surgical removal of four hyperplastic parathyroid glands and subsequent maintainance therapy with 1-alpha-hydroxycholecalciferol there has been virtually complete reversal of her bone abnormalities.
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PMID:Neonatal hyperparathyroidism. 646 29

A Japanese female neonate exhibiting severe respiratory distress was found to have primary hyperparathyroidism. Features included demineralization of the bones, hypercalcemia, hypophosphatemia, and elevated levels of parathyroid hormone, together with marked, generalized aminoaciduria. Four enlarged parathyroid glands were surgically removed, and remineralization of the bones was noticed after the operation. The characteristic pathologic change of the glands was chief cell hyperplasia. A survey of the family identified three other hypercalcemic but asymptomatic relatives. The mode of inheritance was autosomal dominant. This patient seems to be the second neonate with familial hypocalciuric hypercalcemia to be described in the literature.
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PMID:Neonatal primary hyperparathyroidism in familial hypocalciuric hypercalcemia. 710 25

Two cases of primary infantile hyperparathyroidism (PIH) are reported. In both cases the diagnosis was initially suspected from chest radiographs which were obtained to assess the etiology of fever and respiratory distress in one case and heart murmur in another. The first case responded well to subtotal parathyroidectomy. The second case had many unique features. (1) She never became overtly symptomatic. (2) She displayed a constellation of findings that are not yet emphasized. (3) Her indisputable radiographic findings of hyperparathyroidism vanished spontaneously by two months of age, whereas her biochemical alteration have persisted up to now, 2 1/2 years after birth. (4) There members of her family have subclinical hyperparathyroidism (elevated serum parathormone, hypercalcemia, and hypophosphatemia). Our review of 19 more cases showed that PIH has no specific clinical symptoms and/or signs. Of the laboratory findings, hypercalcemia was most consistently encountered. The radiographic findings, although not identical to those described in hyperparathyroid adults, had the greatest diagnostic specificity. The disorder carried a grave prognosis if not diagnosed promptly and managed surgically.
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PMID:Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases. 711 47


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