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Query: UMLS:C0221002 (primary hyperparathyroidism)
 4,921 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year-old female presented with a three year history of progressive weakness. Asymptomatic apart from proximal myopathy, multi channel screening and radiological features indicated primary hyperparathyroidism with severe metabolic bone disease. Removal of a parathyroid adenoma led to improvement of muscle strength and regression of bony and metabolic changes.
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PMID:Primary hyperparathyroidism presenting as a proximal myopathy. 27 Sep 96

A case of primary hyperparathyroidism with prevalent neuromuscular symptoms is described. Clinical, diagnostic and therapeutic implications are emphasized. Particular attention must involve a full clinical examination, electromyographic data and neuromuscular biopsy to make differentiation from primary myopathy or denervation pathology. Some similarity of electromyographic data with those observed in botulism and myastenia gravis should also be taken in mind. Hypercalcemia could play a pathological role in conditioning abnormalities of nervous impulse conduction at the level of neuromuscular junction. Another possible interference might be related to a direct effect of parathormone and hypophosphataemia on nervous impulse conduction. "Glandular hyperplasia", as observed in this case at istologic examination, rises some problems as far as the prognosis is concerned.
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PMID:[Primary hyperparathyroidism with prevalent neuro-muscular manifestations]. 149 65

Serum concentrations of 1,25-dihydroxyvitamin D [1,25-(OH)2D] and immunoreactive parathyroid hormone were measured before and for 7 months after the removal of a 15-g parathyroid adenoma from a 44-yr-old woman with primary hyperparathyroidism and severe osteitis fibrosa cystica. Despite the fall in parathyroid hormone levels from preoperative levels of 20 to 1--2 ng/ml after surgery (normal, up to 1.2 ng/ml), serum 1,25-(OH)2D concentrations remained markedly elevated (156 pg/ml) preoperatively; 124 pg/ml 17 weeks postoperative), approaching the normal range (18--56 pg/ml) only after 5 months (65 pg/ml). Hypocalcemia and hypophosphatemia persisted despite oral 1,25-(OH)2D3 (1 and 2 micrograms/day) and large doses of (oral and iv) calcium gluconate (up to 30 g/day). Healing of the skeletal lesions, reversal of the myopathy, and return of 1,25-(OH)2D circulating levels to normal corresponded to the time when serum phosphate became normal. The stimulus for the persistently elevated serum 1,25-(OH)2D levels may have been hypocalcemia per se, low serum phosphate, or an unidentified signal that paralleled serum phosphate, as serum PTH levels remained in the upper normal range throughout the recovery period.
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PMID:Vitamin D metabolism during recovery from severe osteitis fibrosa cystica of primary hyperparathyroidism. 689 59

Renal failure is relatively common, but except in association with spina bifida or paraplegia it is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly affects the nervous system. The effects of kidney failure on the nervous system are more pronounced when failure is acute. In addition to the important problems related to renal failure there are both acquired and genetically determined diseases which may affect the kidney and the brain. Those acquired diseases include the vasculitides, the paraproteinaemias, and various granulomatous conditions (considered in other chapters of Neurology and Medicine). In two of the most commonly encountered genetically determined diseases, Von Hippel-Lindau disease and polycystic kidney disease, location of pathogenic mutations will provide improved screening programmes and, possibly, allow therapeutic intervention. Uraemia may affect both the central and peripheral nervous systems. Whereas the clinical features of uraemia are well documented, the pathophysiology is less well understood and probably multifactorial. Uraemic encephalopathy, which classically fluctuates, is associated with problems in cognition and memory and may progress to delirium, convulsions, and coma. The encephalopathy may initially worsen with periods of dialysis and almost certainly relates to altered metabolic states in association with ionic changes and possibly impaired synaptic function. Renal failure may affect the peripheral nervous system, resulting in a neuropathy which shows a predilection for large diameter axons. This may be reversed by dialysis and transplantation. The myopathy seen in renal failure, often associated with bone pain and tenderness, is similar to that encountered in primary hyperparathyroidism and osteomalacia. Dialysis itself is associated with neurological syndromes including the dysequilibrium syndrome, subdural haematoma, and Wernicke's encephalopathy. Dialysis dementia, which was prevalent during the 1970s, has reduced in frequency with the use of aluminium free dialysate. With the introduction of transplantation and the concomitant use of powerful immunosuppressive drugs, the pattern of neurological problems encountered in renal replacement therapy has shifted. Five per cent of patients develop nerve injuries during renal transplantation, and up to 40% of patients experience neurological side effects from cyclosporine. Furthermore, CNS infections, often fungal in type, have been reported in up to 45% of transplant patients coming to postmortem. The nature of the involvement of neurologists with their nephrology colleagues is therefore evolving.
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PMID:Neurology and the kidney. 985 55

Endocrine diseases may present with musculoskeletal complaints, and their outcome, even after endocrine control, can be impaired by bone and joint disorders. All musculoskeletal structures, including bone, cartilage, synovium, tendons and ligaments, can be involved by some processes triggered by the endocrine disorder and its related disturbances of homeostasis, including that of growth factors. Endocrine disorders may account for 20-30% of all cases of osteopenia or osteoporosis in adults, the main causes being central and peripheral hypogonadism, endogenous and exogenous hypercorticism or hyperthyroidism, and primary hyperparathyroidism. The physician should be aware of these identifiable and treatable causes of bone loss when interpreting bone mineral density measurements. It is also valuable to evaluate bone status in patients diagnosed with these endocrine disorders. Specific bone therapeutic measures could be discussed. Other frequent musculoskeletal features include myopathy and joint and soft tissue involvement. Endocrine myopathy is frequent in most of the endocrine disorders and is non-specific since proximal painless muscle weakness associated with normal serum enzyme levels and an uncommonly encountered electromyogram myopathic pattern are present in these diseases. Soft tissue involvement is also a frequent consequence of acromegaly, hypothyroidism and diabetes mellitus. There is also a risk of nerve entrapment syndromes in these conditions. Specific arthropathies are the hallmark of acromegaly at the spinal and peripheral joints. Neuroarthropathies are a severe complication of diabetes mellitus as a result of infection, neuropathy and vasculopathy. In all these settings, the physician should be aware that endocrine disorders are part of the differential diagnosis and, conversely, that these articular and peri-articular lesions should be managed independently of the control of the underlying endocrine condition, a specific outcome being borne in mind.
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PMID:Osteoarticular disorders of endocrine origin. 1092 44

We report the case of an 11-year-old child with delayed development who developed signs of exercise-induced pain in the lower limb muscles after an acute attack of appendicitis. He had difficulty standing up from the sitting position and ascending and descending stairs. The physical examination revealed increased reflex activity in the lower limbs. Initially, blood tests, MRI and EMG were normal. Serum phosphorus and calcium were not assayed. Eight months later, the boy's condition worsened (myopathy gait, hyperlordosis) leading to the possible diagnosis of muscle disease. After muscle biopsy, blood tests revealed hypercalcemia at 3.5 mmol/l (normal 2.2-2.6), hypercalciuria, and hypophosporemia. The diagnosis of primary hyperparathyroidism was confirmed by the abnormal level of parathormone initially (19 ng/ml) and later (156 ng/ml) with hypercalcemia. Medical treatment failed and surgery was performed to remove three and a half parathyroid glands. After removal, blood tests returned to normal in six days and the physical examination in three years. The diagnosis of principal cell hyperplasia was retained at the pathology examination. We found no evidence of hypercalcemia or other endocrinopathy such as multiple endocrine neoplasia (MEN 1 or 2a). Study of the menine gene did not reveal any mutation. Muscle dysfunction suggest possible abnormal phosphocalcium regulation. A normal parathormone level with hypercalcemia reveals inappropriate synthesis and secretion.
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PMID:[Primary hyperparathyroidism revealed by pseudomyopathia]. 1595 13

A 21 year old female patient was admitted to Tikur Anbessa Hospital with a diagnosis of primary hyperparathyroidism secondary to parathyroid adenoma. Her predominant presentation was with an anterior neck mass, diffuse osteoporosis and myopathy. The diagnosis was suggested by her clinical symptoms, physical findings, Laboratory studies and radiological survey. The tissue biopsy was also compatible with of the diagnosis. The parathyroid gland was removed surgically and the patient improved significantly. Primary hyperparathyroidism is extremely rare in young patients and presentation with myopathy is even more rare. Routine determination of serum calcium and phosphorus is recommended in patients with such presentations.
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PMID:Primary hyperparathyroidism presenting with musculoskeletal manifestations in a young patient: a case report. 1612 22

Severe muscle weakness in osteomalacia may mimic a primary neuromuscular disorder like spinal muscular atrophy. A 32-year-old woman, initially diagnosed as a case of spinal muscular atrophy based on clinical presentation, electromyography and muscle biopsy, was later found to have osteomalacic myopathy due to primary hyperparathyroidism complicated by vitamin D deficiency. Before diagnosing a progressive, inevitably fatal degenerative condition like spinal muscular atrophy, one must rule out all possible treatable conditions with a similar presentation.
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PMID:Nerve, muscle or bone disease? Look before you leap. 1971 Sep 62

Primary hyperparathyroidism is frequently an incidental finding in asymptomatic patients. Often the diagnosis of primary hyperparathyroidism is made in evaluation for osteoporosis, rarely in the context of hypercalcemic crisis, myopathy, kidney stones, nephrocalcinosis, and osteitis fibrosa. The most frequent cause for primary hyperparathyroidism is benign parathyroid adenoma, reminders have hyperplasia. Primary hyperparathyroidism is defined as hypercalcemia with inappropriately high parathyroid hormone levels. Surgery is the definitive treatment for patients with symptomatic primary hyperparathyroidism and asymptomatic patients, who meet one of the following criteria: serum calcium>0.25 mmol/L (1.0 mg/dl) above the accepted normal reference range, renal failure (GFR<60 ml/min) and presence of osteoporosis (T-score<-2.5 or fracture). Parathyroidectomy should be performed by an experienced surgeon. As an alternative in inoperable patients or preoperatively in severe hypercalcemia cinacalcet successfully reduces calcium levels. In asymptomatic patients not meeting the above mentioned criteria serum calcium and creatinin levels should be measured once a year and DXA every two years, since 30% of the patients with asymptomatic primary hyperparathyroidism are progressive.
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PMID:[Primary hyperparathyroidism]. 2165 91

Primary hyperparathyroidism (PHPT) in children and adolescents is a rare condition. PHPT is usually sporadic and caused by parathyroid adenoma. Patients may present with bone pain, proximal myopathy, bony deformities, fractures, renal calculi, mass on the neck, or acute pancreatitis. A sixteen-year-old boy presented to our outpatient clinic with difficulty in walking due to swelling of both ankles. Ultrasonography revealed intratendinous calcific nodules in both Achilles tendons. Serum biochemistry showed hypercalcemia and hypophosphatemia. Serum parathormone level was high (512 pg/mL). Parathyroid scanning revealed a suspected parathyroid adenoma. The patient underwent parathyroidectomy and the diagnosis of parathyroid adenoma was confirmed by histopathology. Serum levels of parathyroid hormone, phosphate, and calcium returned to normal, and the tenderness over the Achilles tendon and the flow pattern on Doppler examination disappeared as well. In conclusion, hyperparathyroidism should be kept in mind in the differential diagnosis of tendonopathies. Early diagnosis can be crucial for prevention of severe complications.
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PMID:An Unusual Presentation of Parathyroid Adenoma in an Adolescent: Calcific Achilles Tendinitis. 2677 46


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