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

Hypercalcaemia occurs in two forms: mild and severe. In the mild form, usually in young infants the characteristic signs of the severe from (Williams syndrome) are absent, and thus it may cause diagnostic difficulties. Because of that, in infants with muscular hypotonia, growth arrest, constipation and apathy the possibility of idiopathic hypercalcaemia, apart from rickets, should be considered.
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PMID:[A case of idiopathic hypercalcemia (hypersensitivity to vitamin D 3]. 133 82

We describe a 29-year-old male with untreated primary neonatal hyperparathyroidism. Hypotonia, poor feeding, failure to thrive, and developmental delay were noted in early infancy and in incidental serum calcium of 3.8 mmol/L was dismissed as a laboratory error. Childhood was characterized by profound muscle wasting and progressive spastic quadriparesis. Distinctive skeletal deformities, facial dysmorphism, and perichondral calcifications are now evident in adulthood. Elevated serum calcium (range: 2.7-3.3 mM; normal less than 2.7 mM), serum immunoreactive parathyroid hormone (range: 1,405-1,817 pg/mL; normal 50-140 pg/mL), and markedly decreased urinary calcium excretion (0.04 mumol/dL glomerular filtrate; normal greater than 25) suggested the diagnosis of primary neonatal hyperparathyroidism. This was supported by evidence of hypocalciuric hypercalcemia--the autosomal dominant carrier state--in both the parents. Our case illustrates the profound neurodevelopmental deficits arising from sustained hypercalcemia in infancy and childhood. Although this disorder is not lethal, it should be considered a neonatal emergency, since surgical parathyroidectomy can result in cure.
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PMID:Primary neonatal hyperparathyroidism: a devastating neurodevelopmental disorder if left untreated. 221 66

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

Clinical manifestations of hypercalcaemic encephalopathy were heralded in three patients by isolated cataplexy-like falls without loss of consciousness. In one patient the falls with global hypotonia occurred every 5 to 10 seconds and were unaccompanied by changes in E.E.G. The falls disappeared after hypercalcaemia was corrected by excision of a parathyroid adenoma in two patients and by calcitonin injections in one. For this reason, there is little doubt that they were due to the hypercalcaemia, but their mechanism is poorly understood; it probably involves metabolic disturbances in the reticular systems of the brain stem. The connections between calcium metabolism and neuromediators in the brain stem are discussed.
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PMID:[Cataplectic falls disclosing hypercalcemia]. 613 75

Clinical and biochemical evidence of primary hyperparathyroidism (prim. HPT) is reported in an infant with hypotonia, feeding problems and constipation from birth. Following a partial parathyroidectomy at the age of 12 months, the clinical condition improved. In her sister, mother and three other maternal relatives a familial hypocalciuric hypercalcemia (FHH) was subsequently demonstrated. All were clinically healthy in spite of increased total and ionized serum calcium, normal serum parathyroid hormone concentration, low urinary calcium excretion and normal renal excretion of cyclic AMP. Similar findings appeared in our patient after parathyroidectomy. An autosomal dominant inheritance of FHH is suggested. It is thus demonstrated, that a mother with FHH may give birth to healthy children with FHH as well as to infants with prim. HPT associated with FHH.
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PMID:Primary hyperparathyroidism in infancy associated with familial hypocalciuric hypercalcemia. 631 30

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 family with hypercalcemia in four members is reported. The proband, a newborn girl presenting with inadequate sucking due to muscle hypotonia, marked thoracic deformity due to decalcification, hypercalcemia, and hypophosphatemia, suffers from cerebral damage due to hypoxia despite successful total parathyroidectomy of four hyperplastic glands and replacement therapy. Her 31-year-old father showed CCa/Ccr of 0.0094, normal serum Mg, hypercalcemia, hypophosphatemia and normal renal concentrating ability without kidney stone and bone abnormality. Subtotal parathyroidectomy caused only a transient fall of serum Ca. His half sister and her daughter also had symptomless hypercalcemia. Recognition of familial hypocalciuric hypercalcemia is important to avoid unnecessary parathyroid surgery and to respond effectively to severe neonatal primary hyperparathyroidism occasionally seen in such kindred.
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PMID:Familial hypocalciuric hypercalcemia involving four members of a kindred including a girl with severe neonatal primary hyperparathyroidism. 684 19

Subcutaneous fat necrosis (SFN) of the newborn is an uncommon disorder, which occurs during the first years of life, and has been attributed to perinatal stress. Two typical cases are presented. This inflammatory disorder of adipose tissue affects primarily the back, buttocks, arms and thighs, and consists of sharply circumscribed, subcutaneous nodules and plaques. The lesions are red or violaceous and initially tender. Usually they involute spontaneously within months. Hypercalcemia, hypotonia, poor feeding, vomiting and fever are associated with SFN. The aetiology is still incompletely understood. Therapy is not required, except when associated with hypercalcemia.
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PMID:[Subcutaneous fat necrosis of the newborn]. 777 Sep 74

Neonatal primary hyperparathyroidism is a life threatening disorder that is associated with severe hypercalcaemia, hypotonia, bone demineralization, fractures and respiratory distress. Treatment consists of total parathyroidectomy and without this affected infants will usually die by the age of three months. We report a patient with neonatal primary hyperparathyroidism who survived without fractures or parathyroidectomy to an age of nine months, and in whom the hypercalcaemia became masked by vitamin D deficiency. At surgery, four-gland hyperplasia was demonstrated and total parathyroidectomy followed by oral calcitriol treatment has restored well-being and normocalcaemia. An absence of skeletal complications, a survival beyond three months of age without parathyroidectomy and the masking of the hypercalcaemia by vitamin D deficiency represents a unique combination of metabolic abnormalities in a patient with neonatal primary hyperparathyroidism.
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PMID:Neonatal primary hyperparathyroidism masked by vitamin D deficiency. 795 63

Although primary hyperparathyroidism has rarely been described in pediatric patients, prompt diagnosis can avoid severe CNS and metabolic consequences. The aim of this paper is to report a 6 year-old girl whose first symptoms began at eight days of age with cyanosis, hypotonia, and upward gaze deviation. At 4 months, she was admitted due to neurologic disorders and recurrent infection, but the definite diagnosis was made only six years later. Her serum calcium levels are among the highest ever reported in the medical literature, reaching 25.5 mg/dl (6.36 mmol/l). Hypercalcemia, very high levels of parathormone (1550 ng/l--normal range 10-65) and bone deformities posed no problem to diagnosis when she first came to our attention. Nephrocalcinosis and impaired renal function were detected and this child had to be treated with diuretics (furosemide) and hydration that were able to lower her serum calcium levels. Imaging studies including 99mTc-sestamibi scan were not diagnostic. At surgery, the four parathyroid glands were mildly enlarged, with primary hyperplasia. The four glands were removed, cryopreserved, and 14 fragments (1 mm each) were autotransplanted to the braquioradial muscle of the left forearm. After a first phase of hypocalcemia (hungry-bone syndrome), treated with calcium and calcitriol, the calcium levels stabilized. The question is whether she will experience some degree of recovery from her neurological problems, since her severely high calcium levels have been maintained for such a long time.
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PMID:Primary hyperparathyroidism in children: patient report and review of the literature. 964 34


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