Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020437 (hypercalcemia)
 10,293 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Subcutaneous fat necrosis of the newborn (SCFNN) is a rare benign inflammatory disorder of the adipose tissue but may be complicated by hypercalcemia or less frequently, hypocalcemia, resulting in morbidity and mortality. Here we report the case of a neonate with subcutaneous fat necrosis who surprisingly developed hypocalcemia instead of hypercalcemia. A full-term female neonate was delivered by emergency cesarean section for fetal distress and was subsequently admitted to the Special Care Baby Unit. The mother's pregnancy was uncomplicated up to delivery. Her anthropometric measurements were birth weight 4.1 kg (95th percentile), length 50 cm (50th percentile), and head circumference 34.5 cm (50th percentile). The Apgar scores were 2, 3, and 8 at 1, 5, 10 minutes, respectively. There was no abnormal facies and she was fed with breast milk only. On the seventh day of life, the infant was found to have multiple nodules located in the neck, upper back, and right arm. The nodules were firm, well circumscribed with no evidence of tenderness. Her total serum calcium level was 1.55 mmol/L (normal range 2.2 to 2.7 mmol/L) and this was associated with hypotonia and poor sucking reflex. The packed cell volume was 40%. The serum albumin and blood glucose levels were normal. Her blood culture was sterile. A clinical diagnosis of hypocalcemia associated with SCFNN was made. The infant was treated for hypocalcemia (using calcium gluconate) and was carefully followed-up. The skin lesions resolved completely three months after their eruption. Repeat serum calcium measurements at three, six, and nine months of age were all within normal limits. Although SCFNN is a rare benign clinical condition, it may be complicated by hypocalcemia. Therefore, periodic measurements of the serum calcium levels is warranted in such a patient, beginning from the neonatal period up to the age of six months.
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PMID:Hypocalcemia Associated with Subcutaneous Fat Necrosis of the Newborn: Case Report and Literature Review. 2921 31

Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmotility, osteopenia and symptoms of respiratory distress due to a poorly developed chest cage. We present a case of a 2-month old girl with severe hypercalcemia and hyperparathyroidism. She was found to have a novel homozygous mutation in the acceptor splicing site of intron 4 (c.1378 -2A>G) of the calcium sensing receptor gene (CASR). This mutation causes frame shift deletion of exon 5 and insensitivity of CASR to calcium. The patient was treated with intravenous fluids, fruosemide, calcitonin, intravenous pamidronate and oral cinacalcet. She did not respond to medical treatment. Parathyroid gland imaging including ultrasound, MRI and sestamibi nuclear scan were not helpful in localizing the glands. Her symptoms resolved following total parathyroidectomy. She is being treated with alfacalcidiol and calcium supplements to maintain normal serum calcium and phosphate. She achieved her normal developmental milestones.
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PMID:Neonatal severe hyperparathyroidism secondary to a novel homozygous CASR gene mutation. 2935 67

Hypophosphatasia (HPP) is a rare hereditary disease characterized by defective skeletal mineralization, and with a broad severity spectrum. The perinatal forms, lethal and non-lethal, are associated with severe neonatal respiratory distress, potential seizures, hypotrophy and marked hypotonia. The diagnosis is rapidly suggested by a combination of typical radiological signs, hypercalcemia, hyperphosphatemia and low alkaline phosphatase (ALP) activity. In the infantile form, the clinical signs appear before the age of six months, but the patients usually have no or very mild signs at birth. The diagnosis should be considered in the event of early deformation of the pectus, feeding difficulties, hypotonia, frequent respiratory tract infections, hypercalcemia, and even early constitution of craniosynostosis. Radiological signs may be less obvious characterized by irregular metaphyses and generalized hypomineralization. Management is initially symptomatic, and adjusted to the symptoms. Care should be provided by a multidisciplinary team, in close collaboration with Reference Centers experts for the disease. Currently, recombinant enzyme replacement therapy (ERT) is under development for the severe form of HPP. The course of the disease, depending on the degree of severity and the various types of management, requires long-term evaluation through joint prospective follow-up to assess the long-term outcomes of these patients. Multidisciplinary follow up is needed to identify the medical and socio-economic outcomes of children and adults affected by HPP.
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PMID:Perinatal and infantile hypophosphatasia: clinical features and treatment. 2940 34

Hypophosphatasia (HPP) is a rare disease resulting from alterations of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Perinatal HPP is mainly characterized by bone hypomineralization and severe respiratory insufficiency. We describe a full-term boy diagnosed with perinatal HPP after birth, showing dramatic improvement after treatment with Asfotase Alfa, an enzyme-replacement therapy (ERT) prescribed in HPP cases. He initially presented with respiratory insufficiency due to bone hypomineralization, and severe pulmonary hypoplasia that required tracheostomy and invasive ventilation for 8 months. He was taken off ventilation at 41 weeks of age. He also presented complications including hypercalcemia, craniosynostosis, nephrocalcinosis, hypotonia, and a severe feeding disorder. He is still alive at 30 months of age, and his respiratory status and tonus is steadily improving. This case reflects the progression of HPP patients with specific therapy added to symptomatic management. Some aspects of the disease are now well known, such as nephrocalcinosis and craniosynostosis, related to the natural course of the disease, which persisted despite the ERT. The long-term prognosis and outcome for this newborn child remain unknown.
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PMID:Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature. 3024 91

A term infant developed subcutaneous fat necrosis of the newborn (SFNN) 17 days following completion of therapeutic hypothermia for hypoxic ischaemic encephalopathy. Initial calcium was normal, however hypercalcaemia requiring hyperhydration and furosemide developed at 4 weeks. Parathyroid hormone and vitamin D were suppressed. At 13 months, she remains on low calcium formula, and has gross motor delay, central hypotonia and early hand preference. Review of 102 articles yielded 119 SFNN cases. Asphyxia was reported in 78%. Twenty-one per cent had hypoglycaemia. Twenty per cent underwent therapeutic hypothermia. Median onset of skin lesions was day 6 (range: 1-70), with a median duration of 62 days (range: 14-390). Hypercalcaemia developed in 53% (median onset day 28, range: 1-210). Fifty-two per cent of hypercalcaemia was asymptomatic. Outcome information was provided in 106/119 cases; 87% reported a full resolution. Persistent calcinosis was present in 6%. Babies treated with therapeutic hypothermia should be closely monitored for SFNN, and development of hypercalcaemia.
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PMID:Subcutaneous fat necrosis of the newborn. 3184 70


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