1/12. Transient neonatal hypoparathyroidism: report of four cases.Neonatal hypocalcemia (NH) is common in the neonatal period. Its cause falls into one of two clinical categories, early NH occurs in first 24-48 hours of life; late NH is observed at the end of the first week of life. NH due to congenital hypoparathyroidism, either permanent or transient, is rare. They both present with hypocalcemia, low levels of intact parathyroid hormones, and hyperphosphatemia. In this paper we report on four cases of neonatal hypocalcemia due to transient hypoparathyroidism. They are all full-term infants with normal birth weights, carried by nondiabetic mothers. The age of onset was 6 days old to 17 days old, there were three male and one female. Seizure was the major symptom except for case 2, who had a high pitch crying, irritability and opisthotonus. Laboratory data revealed calcium: 4.7 to 6.3 mg/dl, phosphorus: 6.8 to 9.2 mg/dl, and magnesium: 1.2 to 2.8 mg/dl. The intact parathyroid hormone levels were abnormally low in two cases (<13 pg/ml and 5.7 pg/ml), yet only subnormal in the other two (25.2 pg/ml and 22.2 pg/ml). Further studies on these four babies showed no evidence of Di George syndrome. Interestingly, two patients' mothers were found to have hyperparathvroidism. In conclusion, in case of neonatal hypocalcemia, measurements of calcium, phosphorus, and intact-PTH in neonates are required to recognize hypoparathyroidism. Pediatricians should always check maternal parathyroid status to rule out maternal hyperparathyroidism.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
2/12. Is there scope for checking serum biochemistry in the epilepsy clinic?We often request blood investigations, almost as a knee-jerk reaction, without asking ourselves why and what we expect to exclude or confirm by doing the test. We often fail to put the patients presentation into clinical perspective. Here, we present a scenario where routine blood tests were unexpectedly abnormal. A patient presents to the First Fit clinic, having sustained two generalised tonic-clonic epileptic seizures. She was commenced on anti-epileptic medication by her GP prior to being seen by the neurologists. Routine blood investigations taken in the clinic revealed significant hypocalcaemia. She was investigated for the cause of this biochemical derangement and started on 1-alphahydroxycholecaliferol. Her antiepileptic drug was discontinued once her serum calcium was corrected since she was considered to have symptomatic seizures. The discussion deals with the causes of hypocalcaemia, which is less commonly encountered than hypercalcaemia, and the relevance of checking a patients biochemistry in the First Fit clinic. In view of the latter point, there is no clear answer and its use fails to be justified by any strong evidence.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
3/12. Congenital hypoparathyroidism, seizure, extreme growth failure with developmental delay and dysmorphic features--another case of this new syndrome.A 4-year-old Saudi female child with extreme failure to thrive, striking dysmorphic features, developmental delay, congenital hypoparathyroidism, UTI, seizures, chronic otitis media, chronic non-specific gastroenteritis and repeated life-threatening infections was followed from birth. She was the product of first-cousin consanguineous marriage. She had striking facies with frontal prominence, deep-set eyes, depressed nasal bridge, beaked nose, long philtrum with thin upper lip, micrognathia, large floppy ears, bifid uvula, and growth retardation with SD score less than -2 for height, weight and head circumference. We believe these features which include congenital hypoparathyroidism, severe growth failure and developmental delay in the absence of chromosomal abnormality represent a newly described genetically determined syndrome.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
4/12. erythropoietin-deficient anemia associated with autoimmune polyglandular syndrome type I.Autoimmune polyglandular syndrome type I (APS1), a relatively common disorder in some populations, is frequently associated with adrenal insufficiency, hypoparathyroidism, and other endocrine and skin abnormalities. We describe an 18-year-old male with APS1, as documented by genotyping, who presented with hypoparathyroidism and a normocytic, hypoproliferative, isolated anemia. An extensive hematological work-up revealed a low serum erythropoietin, without any other hematological abnormalities. His renal function was normal, and he did not have many of the laboratory or clinical findings associated with an anemia of chronic disease. His anemia was responsive to superphysiologic doses of erythropoietin. We thus suggest that erythropoietin deficiency may be one of the endocrine abnormalities associated with APS1, and clinicians should be cognizant of the association of treatable anemia in patients with APS1.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
5/12. Tonic-clonic seizures in a patient with primary hypoparathyroidism: a case report.hypoparathyroidism, a life threatening disorder, occurs when insufficient parathyroid hormone is produced to maintain extracellular calcium levels within the normal range. The acute clinical signs and symptoms of hypoparathyroidism are the same as those of hypocalcemia, ranging from tingling to intractable generalized tonic-clonic seizures; therefore, it can be mistaken for epilepsy. We report the case of a 36-year-old man who presented two tonic-clonic seizures, characterized by sudden loss of consciousness with a fall and diffuse tonic contractions and clonic jerks. At first diagnosis of epilepsy was established and therapy with valproate was commenced. In the following days, the patient presented typical signs of hypocalcemia and the diagnosis of hypoparathyroidism was made. In the 4 months follow up, antiepileptic drug therapy was reduced until suspension and calcium supplementation was initiated. We briefly review the most recent reports in the literature.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
6/12. dihydrotachysterol therapy for hypoparathyroidism: consequences of inadequate monitoring. Five cases and a review.BACKGROUND: The half synthetic Vitamin D analogue dihydrotachysterol (DHT) is widely used for hypocalcaemic hypoparathyroidism following surgical removal of parathyroids. Such treatment generally initiated by surgeons right after surgery has to be continued in clinical practice. Unfortunately, the required careful monitoring of calcium metabolism is often lacking and as demonstrated may lead to life-threatening conditions. patients AND methods: Here we report on five patients referred to our nephrology unit because of unknown impairment of renal function during therapy with DHT. All patients had clinical signs of hypercalcaemia. Since most symptoms are nonspecific they were not perceived by primary care physicians. In fact DHT treatment was continued for 4 - 50 years. In all cases calcium levels were determined after inadequate long intervals ranging from 3.08 to 4.97 mmol/l. creatinine levels ranged from 277 to 365 micromol/l. All patients suffered from symptoms of severe hypercalcaemia, three of them needing intensive care unit treatment. RESULTS: All patients were treated effectively with a regimen consisting of intravenous saline, a loop diuretic, and application of bisphosphonates. As confirmed by renal biopsy persisting alleviation of renal function was due to calcifications. After discontinuation of DHT therapy patients were safely switched to shorter acting vitamin D derivates maintaining a normal calcium level. CONCLUSIONS: In comparison to short acting vitamin-D derivates hypercalcaemic episodes with DHT appear to last longer and may therefore occur with higher incidence. A future option could be the use of synthetic parathyroid hormone (s-PTH) recently shown to be safe and effective. Nevertheless a customized therapy and careful monitoring is indispensable in any case to prevent irreversible organ damage.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
7/12. Late presenting, prolonged hypocalcemia in an infant of a woman with hypocalciuric hypercalcemia.Familial hypocalciuric hypercalcemia (FHH) is a benign autosomal dominant disorder. Infants affected with FHH however, born to unaffected mothers may develop life-threatening autonomous hyperparathyroidism, the mechanism of which is not clearly understood. There is little information recorded in the literature regarding the opposite scenario, i.e., unaffected infants born to affected mothers. Because fetal parathyroid suppression presumably occurs secondary to high maternal calciums, neonatal hypocalcemia would be expected. The authors present a case of an infant with the latter circumstances who presents with late onset, life-threatening hypocalcemia secondary to relative hypoparathyroidism. The authors explored the possibility that vitamin d deficiency and/or acute environmental stress facilitated the decompensation. The patient required therapy for 2 months.- - - - - - - - - - ranking = 1keywords = life (Clic here for more details about this article) |
8/12. Parathyroid allotransplantation in the treatment of complicated idiopathic primary hypoparathyroidism.Parathyroid allotransplantation was performed in a 25-year-old woman with idiopathic hypoparathyroidism that had been diagnosed at age 4 years. Long-term medical management of the primary condition with vitamin D and oral calcium supplementation was complicated by multiorgan calcinosis and renal failure. At the age of 21 years she received a successful cadaver renal allograft. Four years later she developed calcinosis cutis with widespread skin necrosis. Medical control of calcium and phosphate metabolism was unsatisfactory and the skin necrosis became progressive and life threatening. A parathyroid allograft that was performed with tissue from a parathyroid adenoma resulted in normalization of the serum calcium and phosphorus levels with arrest and subsequent healing of the skin necrosis. Later failure of the parathyroid allograft was followed by successful retransplantation of normal parathyroid tissue from a cadaver organ donor.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
9/12. Juvenile nephronophthisis with blindness in a three-month-old infant. Senior's syndrome associated with relative parathyroid insufficiency.Juvenile nephronophthisis is a slowly progressive renal disease with onset in infancy, characterized by impaired renal concentrating ability. The combination of juvenile nephronophthisis and tapeto-retinal degeneration, renal-retinal dystrophy, may cause blindness in infancy, and renal failure in the first decade of life. This syndrome has not been previously described as a cause of renal failure in young infants. We report an infant who presented at three months of age with blindness and renal insufficiency. In addition, this infant had a disproportionate degree of hypocalcemia and hyperphosphatemia compatible with relative parathyroid gland insufficiency. We propose that this was due to an inability of this infant's parathyroid glands to undergo compensatory hypertrophy, rather than a specific defect in parathyroid function associated with renal-retinal dystrophy.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
10/12. milk-alkali syndrome induced by 1,25(OH)2D in a patient with hypoparathyroidism.milk-alkali syndrome was first described 70 years ago in the context of the treatment of peptic ulcer disease with large amounts of calcium and alkali. Although with current ulcer therapy (H-2 blockers, omeprazole, and sucralfate), the frequency of milk-alkali syndrome has decreased significantly, the classic triad of hypercalcemia, alkalosis, and renal impairment remains the hallmark of the syndrome. milk-alkali syndrome can present serious and occasionally life-threatening illness unless diagnosed and treated appropriately. This article presents a patient with hypoparathyroidism who was treated with calcium carbonate and calcitriol resulting in two admissions to the hospital for milk-alkali syndrome. The patient was successfully treated with intravenous pamidronate on his first admission and with hydrocortisone on the second. This illustrates intravenous pamidronate as a valuable therapeutic tool when milk-alkali syndrome presents as hypercalcemic emergency.- - - - - - - - - - ranking = 0.5keywords = life (Clic here for more details about this article) |
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