Primary hyperparathyroidism in a 14 year old girl presenting with bone deformities

A 14 year old girl with bilateral genu valgum of 6 years duration was brought for evaluation of primary hyperparathyroidism. She had clinical features of rickets such as frontal bossing, rachitic rosary, lumbar lordosis and fixed adduction deformity of the left leg. She had undergone osteotomy earlier for correction of these deformities without benefit. Laboratory investigations showed hypercalcaemia and hypophosphataemia, with elevated alkaline phosphatase and parathyroid hormone levels. A skeletal survey showed generalized decreased density of bone and brown tumours and, coincidentally, a right renal calculus. A computerized tomography scan of the neck and thallium-technetium subtraction scan delineated an adenoma of the left superior parathyroid gland, which was surgically removed. Parathyroid adenoma manifesting with bone deformities, especially genu valgum, is very rare in children. Early diagnosis and prompt treatment is essential to prevent such deformities.     

Primary hyperparathyroidism mimicking vaso-occlusive crises in sickle cell disease

We report a case of bone pain associated with primary hyperparathyroidism in a patient with sickle cell disease. A 17-year-old girl with sickle cell disease (SS phenotype) was seen for bilateral knee and back pain. She had had recurrent severe vaso-occlusive crises and acute chest syndrome in the course of her disease. In the last 2 years, she had frequent visits to the emergency department for severe bone pain. She complained of long-standing fatigue and lethargy. Her physical examination was normal. Hydroxyurea treatment, as well as and long- and short-acting narcotics were given, with little improvement in symptoms. Poor compliance with medication, family dysfunction, and potential narcotic addiction were felt to be significant contributors to the patient's symptoms. She was incidentally found to have an extremely elevated total calcium level of 3.19 mmol/L (range: 2.25-2.76) with an ionized calcium level of 1.9 mmol/L (range: 1.15-1.35). Phosphorus level was 0.82 mmol/L (range: 0.90-1.50), alkaline phosphatase level was elevated at 519 U/L (range: 10-170), and parathyroid hormone level was extremely high at 1645 pg/mL (range: 10-60). Her renal function was normal. Ultrasonography of the neck and a Sestamibi scan revealed a single left inferior parathyroid adenoma adjacent to the thyroid lobe. There was no evidence of an underlying multiple endocrine neoplasia. The patient was diagnosed with primary hyperparathyroidism. Fluid hydration, hydrocortisone, calcitonin, and bisphosphonates were initiated for acute hypercalcemia management before surgical excision of the left parathyroid adenoma. On review of previous blood work, a borderline calcium level of 2.72 was present 18 months before this admission. Two years postsurgery, she has normal renal function, calcium, and parathyroid hormone levels. The weekly visits to the emergency department for pain episodes decreased to 1 every 2 months within the first few months after her surgery. The decrease in pain episodes, even if it coincided with the treatment of primary hyperparathyroidism, may still reflect the natural evolution of sickle cell disease in this patient. However, the high morbidity associated with primary hyperparathyroidism was successfully prevented in this patient. Primary hyperparathyroidism is rare in childhood. In a recent study, it occurred more commonly in female adolescents and was because of a single adenoma, as in our patient. Significant morbidity, mainly secondary to renal dysfunction, was because of the delay in diagnosis after the onset of symptoms (2.0-4.2 years), emphasizing the need for a rapid diagnosis. Sickle cell disease affects approximately 1 of every 600 blacks in North America. Acute episodes of severe vaso-occlusive crisis account for > 90% of sickle cell-related hospitalizations and are a significant cause of morbidity in patients. There is no known association between sickle cell disease and primary hyperparathyroidism, and this case is most probably a random occurrence. However, as emphasized by this case report, pain may also be a harbinger of other disease processes in sickle cell disease. Because management may vary, we suggest that care providers consider the diagnosis of vaso-occlusive crisis as the diagnosis of exclusion and that other etiologies for pain be envisaged in this patient population, especially in the presence of prolonged pain or unusual clinical, radiologic, or biological findings.     

Neonatal,severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient

Neonatal primary hyperparathyroidism is a rare entity characterized by marked hypercalcemia, diffuse parathyroid hyperplasia, and skeletal demineralization. It is often lethal unless total parathyroidectomy is performed. Long-term outcome of treated patients is poorly documented. We report the clinical and radiographic outcome of this disease in a 7-year-old boy who underwent a total parathyroidectomy and autotransplantation of a fragment of one parathyroid gland to his thigh in the neonatal period. This paper demonstrates the importance of prompt diagnosis and management in neonatal hyperparathyroidism and the role of various imaging modalities in its diagnosis and follow-up.     

Parathyroid adenoma in pre-school age children

Primary hyperparathyroidism in children is rare. The neonatal form involves hyperplasia of the parathyroid glands. In older children sporadic forms are usually due to an adenoma and familial forms are generally due to hyperplasia. Adenoma usually presents in adolescents. In the case presented herein, a parathyroid adenoma was excised from an 11-year-old girl with a history of sporadic hypercalcemia from the age of 5.5 years. The disease was discovered in serum chemistry and the patient presented no symptoms or conditions associated with hypercalcemia. Diagnosis was by preoperative imaging studies including 99mTc-sestabimi and surgical intervention stabilized calcium levels. Parathyroid adenoma occurs in pre-school age children and its diagnosis may be delayed because of the absence of symptoms.     

The ineffectiveness of Technetium-99m-sestamibi for the pre-operative localization of parathyroid glands in neonatal primary hyperparathyroidism: case report

OBJECTIVE: To present the case of a child with neonatal primary hyperparathyroidism submitted to preoperative image studies that couldn't localize the parathyroid glands. METHODS: Report of clinical and laboratory evaluation of neonatal primary hyperparathyroidism in a two-and-a-half-monthold child submitted to preoperative cervical ultrasonography and parathyroid scintigraphy with Technetium-99m-Sestamibi, and subtotal parathyroidectomy at the age of four-and-a -half months. RESULTS: The preoperative images suggested an erroneous diagnosis of parathyroid adenoma. After surgery and pos-operative histopathological exams, hyperplasia of parathyroid glands was confirmed. After two years and a half the child has normal parathyroid function. CONCLUSIONS: The cervical ultrasonography and the parathyroid scintigraphy with Technetium-99m-Sestamibi were not useful for preoperative localization of hyperplasied parathyroid glands in the neonatal primary hyperparathyroidism in this case. The subtotal parathyroidectomy has been a successful method for the maintenance of normocalcemy in the patient.     

A case of parathyroid adenoma with brown tumors diagnosed by 201thallium-99mtechnetium subtraction scintigraphy

A case of parathyroid adenoma detected by 201thallium-99mtechnetium subtraction scintigraphy is presented. Focal areas of thallium uptake were observed in the bone. Bone biopsy findings revealed Brown tumors associated with hyperparathyroidism.     

PRIMARY HYPERPARATHYROIDISM IN CHILDHOOD

A case of primary hyperparathyroidism in a 12-year-old boy with renal lithiasis is reported. Laboratory investigations showed a cortisone-resistant hypercalcemia and a low serum phosphate concentration. The renal handling of calcium and phosphate, too, was indicative of primary hyperparathyroidism. At the following operation a parathyroid adenoma was removed. The importance of estimating the serum calcium concentration in all uncertain states of disease in children is stressed, since primary hyperparathyroidism is probably un-derdiagnosed in the pediatric age group.     

Asymptomatic primary hyperparathyroidism in children. Newer methods of preoperative diagnosis

An asymptomatic 11-year-old boy was found to have primary hyperparathyroid secondary to an isolated parathyroid adenoma. This rare disorder of childhood can have asymptomatic hypercalcemia as its only manifestation. Parathyroid hormone assays and studies of urinary calcium excretion, especially the calcium-creatinine clearance ratio, distinguish parathyroid hormone excess from hypocalciuric forms of hypercalcemia. Real-time ultrasonography and dual-isotope subtraction scanning provide accurate, noninvasive, preoperative localization of abnormal parathyroid tissue. The prognosis of untreated, asymptomatic primary hyperparathyroidism in children is not known, and the indications for surgery are unclear. Diagnostic certainty is, therefore, especially important prior to surgical exploration.     

A Case of Primary Hyperparathyroidism in Childhood Found by a Chance Hematuria

A 10-yr-old boy visited Minoh City Hospital complaining of gross hematuria. Laboratory investigations revealed hypercalcemia, hypophosphatemia, and elevated serum levels of parathyroid hormone. A stone was found in the right ureter with drip infusion pyelography. A parathyroid adenoma was successfully diagnosed with computed tomography, ultrasonography, and methoxy-2-isobutyl isonitrile (MIBI) scintigraphy. Multiple endocrine neoplasia was ruled out by normal results of endocrine laboratory examinations. Extracorporeal shock wave lithotripsy was performed to treat the urolithiasis, and the parathyroid adenoma was surgically removed. Primary hyperparathyroidism is rare in childhood; however, this case suggests that gross hematuria is an important sign of hyperparathyroidism.     

A symptomatic parathyroid adenoma. Value of parathyroid hormone determination through selective catheterization of the thyroid veins]

A parathyroid adenoma is reported in a girl aged 12 years in whom hypercalcaemia was discovered by chance. Investigation of calcium metabolism suggested the diagnosis of hyperparathyroidism and studies of the urinary cyclic AMP and determination of the plasma parathyroid hormone concentration further added to the evidence. The diagnosis of parathyroid adenoma was made after determination of the parathyroid hormone concentration at various sights during selective catheterization of the tyroid veins. This was confirmed at surgery. In this patient the place of catheterization of the inferior thyroid veins in the early diagnosis of primary hyperparathyroidism is discussed.     

Akute Pankreatitis Seltene Komplikation bei primärem Hyperparathyroidismus (pHPT)

Background. Primary hyperparathyroidism (pHPT) in childhood and adolescence is a rare disease. Therefore diagnosis often is delayed. Methods. We report on a 13 year old boy, who sufferd from nausea, abdominal pain and weight loss for 9 months. We diagnosed an adenoma of the parathyroid gland and an acute pancreatitis in the course of a hypercalcemic crisis. Results. After stabilizing the patient, the adenoma was removed surgically. No problems occured after the surgical treatment. Within 3 months the boy regained his original weight. Conclusion. Symptoms like nausea, abdominal pain, cephalea, hypertonia, anorexia and renal stones could be a hint for pHPT. The coincidence of pHPT and pancreatitis is extremely rare. According to references in the literatur this association is most likely related to elevated calcium levels due to advanced pHPT.     

Hematuria revealing primary hyperparathyroidism in a child]

BACKGROUND: Hematuria rarely reveals primary hyperparathyroidism in the child. CASE REPORT: A 10-year-old boy presented with gross hematuria and urolithiasis. Biological findings showed hypercalcemia and hypercalciuria. Initially, parathormone plasma levels remained within normal range, but raised after a few months and at that time, ultrasound scan examination showed a parathyroid adenoma. Nevertheless, two surgical explorations were necessary to cure hypercalcemia and hyperparathyroidism. Histological aspects of parathyroid adenoma were not found on pathological examination. CONCLUSION: Symptomatic hypercalciuria may be the first symptom revealing primary hyperparathyroidism in children. Surgical treatment remains difficult in such a case.     

Hyperparathyroidism

Hyperparathyroidism is a disease characterized by hypercalcemia with hypophosphoremia resulting from increased secretion of parathyroid hormone (PTH). The disease may be divided into 3 forms: a) primary, b) secondary, c) tertiary (secondary refractory form). Primary hyperparathyroidism is rare in children; hyperplasia is more frequent during the early years of life (neonates and infants) and is difficult to distinguish from adenoma in children. The disease may be asymptomatic; elevated calcemia levels (>12 <13.5 mg/dl) are accompanied by anorexia, asthenia and persistent stipsis; severely elevated concentrations (>13.5 mg/dl) are accompanied by nausea, vomiting, polyuria due to osmosis, with dehydration and progressive onset of lethargy, stupor and coma. Osteopenia or osteitis fibrosa cystica may be present due to augmented bone resorption. Height and weight increases are altered due to anorexia and dehydration. Differential diagnosis includes iatrogenic causes of hypercalcemia (excessive vitamin D intake, prolonged immobilization, etc.) and idiopathic familial hypercalcemia. Emergency treatment is required in cases of extremely elevated hypercalcemia (Ca >13.5-14 mg/dl), due to risk of injury to the heart, the central nervous system, the gastrointestinal tract and the kidneys. The 4 cardinal points of treatment are: hydration, calciuresis, inhibition of bone calcium resorption, treatment of the cause underlying hyperparathyroidism. Secondary hyperparathyroidism is found in cases where chronic hypocalcemia is present, particularly in chronic renal failure, untreated deficiency rickets, chronic intestinal malabsorption, hepatobiliary disease, types I and II vitamin D-dependent rickets, tubular acidosis or Fanconi's syndrome. The tertiary form is distinguished by the autonomous nature of the parathyroid glands which have become hypertrophic/hyperplastic due to uncontrollable, chronic severe renal failure. It can also be of iatrogenic origin due to excessive intake of inorganic phosphates in familial hypophosphatemic rickets or chronic vitamin D deficiency.     

Primary hyperparathyroidism in children

Primary hyperparathyroidism is an uncommon condition in childhood that is easily amenable to surgical treatment with excellent results. Pathologically, the parathyroid glands may show generalized hyperplasia or, more commonly, adenoma formation, the latter frequently being seen in adolescence. Two girls with solitary parathyroid adenomas and predominantly skeletal manifestations resembling rickets are reported, underlining the need to suspect and appropriately investigate these children. The literature on the subject is reviewed.     

Familial parathyroid carcinoma in a child

Familial hyperparathyroidism and parathyroid carcinoma are rare diseases. A case of parathyroid carcinoma in an 8-year-old girl whose mother had previously undergone parathyroidectomy for primary hyperparathyroidism is reported. Parathyroid carcinoma in a preadolescent child has not been described previously, and may have a familial basis.     

Primary hyperparathyroidism. Case report and management

A 13-year-old girl presenting with abdominal pain, polyuria, polydipsia, and radiologically confirmed renal calculi was diagnosed as having primary hyperparathyroidism. Laboratory data revealed markedly elevated serum calcium, low phosphorus, and elevated parathyroid hormone. Other parathyroid function tests also confirmed the diagnosis of primary hyperparathyroidism. Ultrasound examination showed a small echogenic nodule in the parathyroid gland. Following a single gland resection, the extremely high serum calcium level promptly decreased to normal range, and it has remained normal.     

Persistent elevated serum levels of intact parathyroid hormone after reoperation for primary hyperparathyroidism and after pamidronate therapy

Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia. We present a six-month-old female patient, the first child of nonconsanguineous parents, who was referred for the investigation of failure to thrive, vomiting, constipation, fever, abdominal distention and hypotonia. Physical examination revealed weight under 3rd percentile, height 3rd-10th percentile, decreased subcutaneous fat, and distention of the abdomen. In neurological examination, hypotonia, motor-mental retardation, and active deep tendon reflexes were found. The biochemical values at the time of admission revealed primary hyperparathyroidism. Since hypercalcemia did not respond to calcitonin therapy and due to the mortality of hypercalcemia, parathyroidectomy was performed. Because hyperparathyroidism and hypercalcemia continued, angiography was done which revealed increased parathyroid hormone levels in the periphery of the innominate vein. Exploratory surgery followed, but hyperparathyroidism and hypercalcemia persisted after all of these procedures. Calcium-sensing receptor mutations and supernumerary gland were considered. Because hypercalcemia persisted, pamidronate therapy was initiated on a monthly basis.     

Parathyroid conditions in childhood

This review of parathyroid surgery in children will briefly discuss parathyroid gland embryology and anatomy before focusing on the pathophysiology, clinical presentation, and treatment of hyperparathyroidism in children. Hyperparathyroidism (HPT) is the overproduction of PTH and it is rare in children, with an incidence of 2-5 per 100,000. This rarity means that the principles of caring for children with parathyroid disease are largely extrapolated from the richer adult experience; however, the unique pediatric aspects of parathyroid problems and their surgical treatment, including presentation, imaging, operative approach, and complications, will be considered.     

Primary Heart Tumors in the Pediatric Age Group: A Review of Salient Pathologic Features Relevant for Clinicians

Because primary tumors of the heart in infants and children are extremely rare, most knowledge is based on collections of case reports rather than large cohort studies. The types of heart tumors encountered in the pediatric age group differ from those seen in adults. In the latter, cardiac myxomas are by far the most common tumor; in infants and children the most common primary tumor of the heart is the rhabdomyoma. Spontaneous regression of these tumors has been well established so that surgical intervention is no longer indicated unless there are clinical manifestations from the heart. There is a high incidence of associated tuberous sclerosis. Any intracavitary mass in infants is suggestive for a cardiac rhabdomyoma unless otherwise proven. The second most common tumor in this age group is cardiac fibroma. These tumors probably represent hamartomatous lesions and this has led to a strategy in which radical surgical excision is not indicated if the procedure endangers postoperative heart function. Cardiac myxomas are of interest in this age group because of their familial occurrence as part of the myxoma syndrome. Other types of primary heart tumors occur, including malignant variants, but all are exceedingly rare. It is because of the sporadic nature of these tumors that treatment and insights into prognosis are based largely on case documentations and analogies from similar tumors originating elsewhere.     

Acute pancreatitis as an initial manifestation of hypercalcemia in primary hyperparathyroidism in childhood

A 12-year-old girl was admitted to our hospital with signs of an acute abdomen with paralytic ileus. The previous and family history were without abnormalities. Abdominal pain and vomiting had started two days earlier. On palpation the swollen abdomen was painful and there was an increased tension in the left upper part. The clinical diagnosis of acute pancreatitis was confirmed by an increased serum level of lipase (4480 U/l). Clinical chemical investigations further revealed a permanent hypercalcemia in the range of 6.4 to 8.3 mval/l. This, together with concomitantly reduced levels of serum phosphate and a threefold increased level of parathyroid hormone (343 pg/ml, upper limit of reference = 100 pg/ml) were consistent with a hyperparathyroidism. In fact, sonography of the cervical organs revealed a solitary adenoma of the parathyroid glands. After surgery serum levels of calcium returned to normal. Hypercalcemia as a consequence of primary hyperparathyroidism has to be included in the differential diagnosis of acute pancreatitis in childhood.