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1.  Severe Hypercalcemia Complicating Recovery of Acute Kidney Injury due to Rhabdomyolysis 
Patient: Male, 23
Final Diagnosis: Rabdomyolysis
Symptoms: Cardiac arrest • cardiac arrhythmia • hypercalcemia
Medication: —
Clinical Procedure: —
Specialty: —
Objective:
Unusual clinical course
Background:
Rhabdomyolysis is frequently complicated by multiple electrolyte abnormalities, including hyperkalemia, hyperphosphatemia, and hypo/hypercalcemia. Hypercalcemia can be severe and life-threatening.
Case Report:
A 23-year-old white male suffered severe trauma to his lower extremities after a motor vehicle accident, leading to severe muscle damage, cardiac arrhythmia, cardiac arrest, and oliguric acute kidney injury (AKI), requiring hemodialysis treatment. As expected, he was hypocalcemic during the oliguric phase but during the diuretic phase he developed severe symptomatic hypercalcemia requiring hemodialysis treatment in spite of volume replacement and administration of pamidronate. Hypercalcemia reached a peak of 17.1 mg/dL, corrected for serum albumin and urine output was as high as 11.9 liters daily. Hypercalcemia lasted for 3 weeks and then it returned back to normal levels. Plasma levels of 25-OH and 1–25(OH)2 vitamin D were low, intact parathyroid hormone level was appropriately suppressed, and 24-hour urine calcium was 1194 mg (normal up to 350 mg/daily). Mobilization of calcium from calcium phosphate deposits in the injured muscles seems to be the main reason for hypercalcemia and hypercalciuria in rhabdomyolysis-induced AKI.
Conclusions:
Hypercalcemia is not uncommon during the recovery phase of ATN. Unattended, it can cause severe morbidity and even mortality. Fluid administration, pamidronate, and calcium-free dialysis are some methods used to correct severe hypercalcemia. Over time, hypercalcemia improves in almost all cases.
doi:10.12659/AJCR.891046
PMCID: PMC4172091  PMID: 25218143
Acute Kidney Injury; Hypercalcemia; Rhabdomyolysis
2.  Prenatal diagnosis of congenital mesoblastic nephroma 
Obstetrics & Gynecology Science  2015;58(5):405-408.
Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition.
doi:10.5468/ogs.2015.58.5.405
PMCID: PMC4588847  PMID: 26430667
Drug therapy; Nephroma, mesoblastic; Pregnancy; Prenatal diagnosis; Renal tumor
3.  Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients 
Summary
Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutations that result in life-threatening hypercalcemia and metabolic bone disease. Until recently, therapy has been surgical parathyroidectomy. Three previous case reports have shown successful medical management of NSHPT with cinacalcet. Here we present the detailed description of two unrelated patients with NSHPT due to heterozygous R185Q CASR mutations. Patient 1 was diagnosed at 11 months of age and had developmental delays, dysphagia, bell-shaped chest, and periosteal bone reactions. Patient 2 was diagnosed at 1 month of age and had failure to thrive, osteopenia, and multiple rib fractures. Cinacalcet was initiated at 13 months of age in patient 1, and at 4 months of age in patient 2. We have successfully normalized their parathyroid hormone and alkaline phosphatase levels. Despite the continuance of mild hypercalcemia (11–12 mg/dl), both patients showed no hypercalcemic symptoms. Importantly, patient 1 had improved neurodevelopment and patient 2 never experienced any developmental delays after starting cinacalcet. Neither experienced fractures after starting cinacalcet. Both have been successfully managed long-term without any significant adverse events. These cases expand the current literature of cinacalcet use in NSHPT to five successful reported cases. We propose that cinacalcet may be considered as an option for treating the severe hypercalcemia and metabolic bone disease found in infants and children with inactivating CASR disorders.
Learning points
NSHPT due to mutations in the CASR gene occurs with hypercalcemia and metabolic bone disease, but not always with severe critical illness in infancy.NSHPT should be considered in the differential diagnosis for a newborn with a bell-shaped chest, osteopenia, and periosteal reactions.Neurodevelopmental consequences may occur in children with hypercalcemia and may improve during treatment.Calcimimetics can be used to successfully treat the pathophysiology of NSHPT directly to control serum calcium levels.
doi:10.1530/EDM-15-0040
PMCID: PMC4496565  PMID: 26161261
4.  Hypercalcemia and multiple osteolytic lesions in an adult patient with relapsed pre-B acute lymphoblastic leukemia: a case report 
Hippokratia  2015;19(1):78-81.
Background:
Hypercalcemia and severe osteolytic lesions are rare complications of acute lymphoblastic leukemia (ALL) in childhood, and those cases share similar clinical features. Similarly, hypercalcemia is a rare feature in adult ALL. Here, we report an uncommon case of an adult patient with relapsed precursor B ALL (pre-B ALL) who developed multiple osteolytic lesions and hypercalcemia.
Case description:
A 24-year-old male patient, diagnosed with pre-B ALL, was admitted in our hospital due to severe lumbar pain. After reviewing laboratory, radiological and clinical findings, the patient was diagnosed as having relapse of a mixed phenotype acute leukemia, according to bone marrow aspiration (9% blasts) and cytogenetic analysis, with multiple osteolytic lesions in all lumbar vertebrae, sacrum and ilium and severe hypercalcemia (13.3 mg/dL). Thus, FLAG-IDA rescue therapy and hydration plus furosemide, corticoids and bisphosphonates were administered. Despite initial amelioration, his hematological condition deteriorated and he died due to severe sepsis as a result of severe immunosuppression.
Conclusion:
Two possible mechanisms have been suggested for hypercalcemia in hematological malignancy, either the leukemic infiltration or the paraneoplastic production of a variety of humoral factors and proinflammatory cytokines. However, hypercalcemia and severe osteolytic lesions are rare features in ALL adult patients and their combination may be indicator of poor prognosis. Hippokratia 2015, 19 (1): 78-81.
PMCID: PMC4574594  PMID: 26435654
Precursor B acute lymphoblastic leukemia; relapse; hypercalcemia; osteolysis; multiple osteolytic lesions; adult
5.  Palliative treatment of uncontrollable hypercalcemia due to parathyrotoxicosis: denosumab as rescue therapy 
Parathyroid carcinoma is a rare disease leading to severe hypercalcemia due to hyperparathyroidism. Surgery is the primary treatment option. A more progressive form of the disease is characterized by parathyrotoxicosis, and subsequent hypercalcemia is the most common cause of death. We report a case presenting with severe hypercalcemia due to parathyrotoxicosis from parathyroid carcinoma treated for the first time using the monoclonal antibody denosumab as a rescue therapy and present long-term follow-up data. The 71-year-old patient presented with severe hypercalcemia due to metastatic parathyroid carcinoma. Despite undergoing treatment with bisphosphonates, cinacalcet hydrochloride, and forced diuresis, the patient`s condition deteriorated rapidly due to resistant hypercalcemia. Surgery performed because of spinal metastasis and forced diuresis lowered calcium levels, albeit they remained in the hypercalcemic range and significantly increased when forced diuresis was stopped. Considering a palliative situation to overcome hypercalcemia, we decided to administer denosumab, a monoclonal antibody that binds to the receptor activator of nuclear factor-kappa B ligand. After a single subcutaneous administration of 60 mg denosumab, calcium levels normalized within one day. Subsequent denosumab injections led to permanent control of serum calcium for more than 2 years despite rising parathyroid hormone levels and repeated surgeries. Together with recent cases in the literature supporting our observation, we believe that denosumab is relevant for future trials and represents an effective tool to control hypercalcemia in patients with advanced stages of parathyroid cancer.
Learning points
Severe hypercalcemia is the most common cause of death in patients with parathyroid carcinoma.The monoclonal antibody denosumab rapidly lowered severely elevated serum calcium levels due to parathyrotoxicosis.Denosumab was effective in the long-term treatment of hypercalcemia despite progression of parathyroid carcinoma.
doi:10.1530/EDM-15-0082
PMCID: PMC4653612  PMID: 26605043
6.  Hypercalcemia in Children and Adolescents 
Current opinion in pediatrics  2010;22(4):508-515.
Purpose of the review
In this review we define hypercalcemia levels, common etiologies for hypercalcemia in children, and treatment in order to aid the practicing pediatrician.
Recent Findings
One rare cause of hypercalcemia in the child is Familial hypocalciuric hypercalcemia (FHH) [also termed familial benign hypercalcemia (FBH)]. Mutations that inactivate the Ca2+-sensing receptor gene FHH have been described as an autosomal dominant disorder, but recently milder mutations in the CASR have been shown to cause hypercalcemia when homozygous.
Summary
Normal serum levels of calcium are maintained through the interplay of parathyroid, renal, and skeletal factors. In this review, we have distinguished the neonate and infant from the older child and adolescent because the causes and clinical features of hypercalcemia can differ in these two age groups. However the initial approach to the medical treatment of severe or symptomatic hypercalcemia is to increase the urinary excretion of calcium in both groups. In most cases, hypercalcemia is due osteoclastic bone resorption, and agents that inhibit or destroy osteoclasts are therefore effective treatments. Parathyroid surgery, the conventional treatment for adults with symptomatic primary hyperparathyroidism, is recommended for all children with primary hyperparathyroidism.
doi:10.1097/MOP.0b013e32833b7c23
PMCID: PMC2967024  PMID: 20601885
hypercalcemia; pediatrics; bisphosphonates; hyperparathyroidism
7.  Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. 
Journal of Clinical Investigation  1994;93(3):1108-1112.
Neonatal severe hyperparathyroidism is a rare life-threatening disorder characterized by very high serum calcium concentrations (> 15 mg/dl). Many cases have occurred in families with familial hypocalciuric hypercalcemia, a benign condition transmitted as a dominant trait. Among several hypothesized relationships between the two syndromes is the suggestion that neonatal severe hyperparathyroidism is the homozygous form of familial hypocalciuric hypercalcemia. To test this hypothesis, we refined the map location of the gene responsible for familial hypocalciuric hypercalcemia on chromosome 3q. Analyses in 11 families defined marker loci closely linked to the gene responsible for familial hypocalciuric hypercalcemia. These loci were then analyzed in four families with parental consanguinity and offspring with neonatal severe hyperparathyroidism. Each individual who was homozygous for loci that are closely linked to the gene responsible for familial hypocalciuric hypercalcemia had neonatal severe hyperparathyroidism. The calculated odds of linkage between these disorders of > 350,000:1 (lod score = 5.56). We conclude that dosage of the gene defect accounts for these widely disparate clinical phenotypes; a single defective allele causes familial hypocalciuric hypercalcemia, while two defective alleles causes neonatal severe hyperparathyroidism.
PMCID: PMC294052  PMID: 8132750
8.  Case Report: Pulmonary Alveolar Calcification as a Result of Severe Hypercalcemia due to Acute Lymphoblatic Leukemia. 
F1000Research  2015;4:111.
Severe hypercalcemia is a rare metabolic disorder in pediatric medicine. This report describes a rare case of severe hypercalcemia and its clinical manifestations in a 2-year-old toddler. The radiological findings caused by hypercalcemia and osteolysis were emblematic of the osteolytic lesions. Hypercalcemia led to massive pulmonary alveolar calcification. The hypercalcemia was successfully treated with pamidronate, a bisphosphonate drug class. Further investigation resulted in a diagnosis of acute lymphoblastic leukemia (ALL). The patient is currently on chemotherapy and has a favorable prognosis. Although severe hypercalcemia alone is an unusual finding as the first sign for ALL, this should be considered, not to mention the radiological images resulted from calcium deposits.
doi:10.12688/f1000research.6393.1
PMCID: PMC4505782  PMID: 26213611
hypercalcemia; acute lymphoblastic leukemia; pulmonary alveolar calcification; osteolytic lesions; paediatric case report
9.  Severe hypercalcemia due to subcutaneous fat necrosis: presentation, management and complications 
Objective
Subcutaneous fat necrosis (SCFN) is a rare form of panniculitis in infants that generally occurs following birth trauma, meconium aspiration, or therapeutic cooling. Severe hypercalcemia occurs in a subset of patients, but data on its presentation, management, and outcomes are limited. This report details the clinical course and complications of infants treated for severe hypercalcemia (peak serum calcium ≥3.0 mmol/L) due to SCFN.
Design
Chart review of all infants with SCFN seen at a single pediatric center over a 13-year period.
Patients
Seven infants with SCFN developed severe hypercalcemia, with median peak serum calcium 4.1 mmol/L (range 3.3–5.1).
Results
Severe hypercalcemia occurred before 6 weeks of age, and was asymptomatic in 3/7 patients (43%). Most patients were treated with intravenous hydration, furosemide, glucocorticoids, and low-calcium formula, which restored normocalcemia in a median of 9 days (range 2–42). Fever developed during treatment in 4/7 infants (57%): two patients had bacterial infections and two had no infectious source identified. Nephrocalcinosis was present in 5/6 patients (83%) who were evaluated by renal ultrasound. Nephrocalcinosis failed to resolve in all cases over a median follow up of 20 months (range 8–48), but no renal dysfunction was observed. Eosinophilia, which has not been reported previously in SCFN, was present in 6/7 patients (86%).
Conclusions
In this largest series to date of infants with severe hypercalcemia due to SCFN, novel findings include the common occurrence of fever and a high incidence of persistent nephrocalcinosis without evidence of adverse renal outcomes.
doi:10.1136/archdischild-2014-306069
PMCID: PMC4134364  PMID: 24907163
subcutaneous fat necrosis; infant; hypercalcemia; fever; nephrocalcinosis
10.  Neonatal Hypercalcemia Secondary to Subcutaneous Fat Necrosis Successfully Treated with Pamidronate: A Case Series and Literature Review 
AJP Reports  2014;4(2):e93-e96.
Subcutaneous fat necrosis (SCFN) is a noninfectious panniculitis that occurs in term infants who experience significant distress in the 1st weeks of life, including hypoxic ischemic encephalopathy (HIE). Since the introduction of therapeutic hypothermia for HIE, there have been a few published case reports of SCFN, following this modality of treatment. Although, most cases of SCFN resolve spontaneously, SCFN may be associated with hypercalcemia, which may sometimes reach dangerous levels. Approaches used for the management of this potentially life-threatening condition, include hyperhydration, calciuric diuretics, corticosteroids, and in more resistant cases pamidronate, a bisphosphonate. We report our experience on the use of pamidronate in two cases of severe hypercalcemia associated with SCFN following therapeutic hypothermia for HIE. We believe that with increasing use of therapeutic hypothermia for HIE, clinicians are likely to encounter this condition more frequently.
doi:10.1055/s-0034-1395987
PMCID: PMC4239139  PMID: 25452891
hypercalcemia; therapeutic hypothermia; newborn; pamidronate; subcutaneous fat necrosis
11.  An Unusual Case of Hypercalcemia Associated with Graves’ Disease and Vitamin D Deficiency 
Objective:
To present a case of hypercalcemia associated with thyrotoxicosis in a patient with vitamin D deficiency and review biochemical changes during the course of treatment.
Methods:
We report a case, describe the changes in serum calcium, phosphorus, parathyroid hormone in Graves’ disease and concomitant Vitamin D deficiency. We compare our findings to those reported in literature.
Results:
Our patient had hypercalcemia secondary to thyrotoxicosis alone, which was confirmed by low parathyroid hormone level and resolution of hypercalcemia with treatment of thyrotoxicosis. The case was complicated by a concomitant vitamin D deficiency. Serum calcium elevation in patients with thyrotoxicosis occurs secondary to hyperthyroidism alone or due to concurrent hyperparathyroidism. Hypercalcemia from thyrotoxicosis is usually asymptomatic and is related to bone resorption. Vitamin D deficiency can be seen in patients with thyrotoxicosis because of accelerated metabolism, poor intestinal absorption and increased demand during bone restoration phase. Coexistence of hypercalcemia and Vitamin D deficiency in patients with thyrotoxicosis is rare, but possible, and 25-hydroxyvitamin D levels should be checked. The definite treatment for hypercalcemia in thyrotoxicosis is correction of thyroid function.
Conclusion:
Hypercalcemia in thyrotoxicosis should be distinguished from concomitant hyperparathyroidism and confirmed by resolution of hypercalcemia with control of thyrotoxicosis. Patients with hypercalcemia and thyrotoxicosis may also have vitamin D deficiency and 25-OH Vitamin D levels should be checked.
doi:10.4137/CMED.S7116
PMCID: PMC3411504  PMID: 22879791
hypercalcemia; thyrotoxicosis; vitamin D deficiency
12.  Challenges in the differential diagnosis of hypercalcemia: A case of hypercalcemia with normal PTH level 
The hypercalcemias are a common and heterogeneous group of disorders, ranging from the occasional detection of a high level of serum calcium to a life-treating condition. In a patient presenting with hypercalcemia, a differential diagnosis can be established easily by measuring serum calcium and parathyroid hormone (PTH) concentrations. We describe the case of an 83-year-old man presenting with a severe symptomatic hypercalcemia with high-normal PTH level due to the coexistence of primary hyperparathyroidism and malignancy-associated hypercalcemia. The presence of two conditions producing hypercalcemia was revealed only during in-hospital stay and after the administration of an intravenous bisphosphonate, when the PTH concentration increased rapidly after bisphosphonate treatment with a decrease in serum calcium. The occurrence of two conditions producing hypercalcemia is a rare event in the literature, and should be considered in the presence of an abnormally high serum calcium level associated with normal or high-normal PTH, in order to establish a correct diagnosis and appropriate interventions.
doi:10.5306/wjco.v3.i1.7
PMCID: PMC3257349  PMID: 22247823
Bisphosphonates; Hypercalcemia; Malignancy-associated hypercalcemia; Parathyroid hormone; Primary hyperparathyroidism
13.  Multifactorial Hypercalcemia and Literature Review on Primary Hyperparathyroidism Associated with Lymphoma 
Case Reports in Endocrinology  2014;2014:893134.
The most common cause of hypercalcemia in hospitalized patients is malignancy. Primary hyperparathyroidism most commonly causes hypercalcemia in the outpatient setting. These two account for over 90% of all cases of hypercalcemia. Hypercalcemia can be divided into PTH-mediated and PTH-independent variants. Primary hyperparathyroidism, familial hypocalciuric hypercalcemia, familial hyperparathyroidism, and secondary hyperparathyroidism are PTH mediated. The most common PTH-independent type of hypercalcemia is malignancy related. Several mechanisms lead to hypercalcemia in malignancy-direct osteolysis by metastatic disease or, more commonly, production of humoral factors by the primary tumor also known as humoral hypercalcemia of malignancy that accounts for about 80% of malignancy-related hypercalcemia. The majority of HHM is caused by tumor-produced parathyroid hormone-related protein and less frequently production of 1,25-dihydroxyvitamin D or parathyroid hormone by the tumor. We report the rare case of a patient with hypercalcemia and diagnosed primary hyperparathyroidism. The patient had persistent hypercalcemia after surgical removal of parathyroid adenoma with recorded significant decrease in PTH level. After continued investigation it was found that the patient also had elevated 1,25-dihydroxyvitamin D and further studies confirmed a large spleen mass that was later confirmed to be a lymphoma. This is a rare example of two concomitant causes of hypercalcemia requiring therapy.
doi:10.1155/2014/893134
PMCID: PMC3970041  PMID: 24716007
14.  Life-Threatening Hypercalcemia Revealing Diffuse and Isolated Acute Sarcoid-Like Myositis 
Medicine  2016;95(10):e3089.
Abstract
Up to 50% patients with sarcoidosis display extra-pulmonary disease. However, initial and isolated (ie, without lung disease) acute muscular involvement associated with pseudo-malignant hypercalcemia is very uncommon. We report on 3 cases of life-threatening hypercalcemia revealing florid and isolated acute sarcoid-like myositis.
All patients complained of fatigue, progressive general muscle weakness, and weight loss. Laboratory tests showed a severe life-threatening hypercalcemia (>3.4 mmol/L). Hypercalcemia was associated with increased serum level of 1,25-(OH)2 vitamin D and complicated with acute renal failure. One patient displayed acute pancreatitis due to hypercalcemia.
In all cases, PET-scan, performed for malignancy screening, incidentally revealed an intense, diffuse, and isolated muscular fluorodeoxyglucose (FDG) uptake consistent with diffuse non-necrotizing giant cells granulomatous myositis demonstrated by muscle biopsy. Of note, creatine phosphokinase blood level was normal in all cases. No patients displayed the usual thoracic features of sarcoidosis.
All patients were treated with high dose steroids and achieved rapid, complete, and sustained remission. A review of English and French publications in Medline revealed 5 similar published cases.
Steroid-sensitive acute sarcoid-like myositis causing high calcitriol levels and life-threatening hypercalcemia should be recognized as a separate entity.
doi:10.1097/MD.0000000000003089
PMCID: PMC4998923  PMID: 26962842
15.  Hypercalcemia of Malignancy: An Update on Pathogenesis and Management 
Hypercalcemia of malignancy is a common finding typically found in patients with advanced stage cancers. We aimed to provide an updated review on the etiology, pathogenesis, clinical presentation, and management of malignancy-related hypercalcemia. We searched PubMed/Medline, Scopus, Embase, and Web of Science for original articles, case reports, and case series articles focused on hypercalcemia of malignancy published from 1950 to December 2014. Hypercalcemia of malignancy usually presents with markedly elevated calcium levels and therefore, usually severely symptomatic. Several major mechanisms are responsible for the development of hypercalcemia of malignancy including parathyroid hormone-related peptide-mediated humoral hypercalcemia, osteolytic metastases-related hypercalcemia, 1,25 Vitamin D-mediated hypercalcemia, and parathyroid hormone-mediated hypercalcemia in patients with parathyroid carcinoma and extra parathyroid cancers. Diagnosis should include the history and physical examination as well as measurement of the above mediators of hypercalcemia. Management includes hydration, calcitonin, bisphosphonates, denosumab, and in certain patients, prednisone and cinacalcet. Patients with advanced underlying kidney disease and refractory severe hypercalcemia should be considered for hemodialysis. Hematology or oncology and palliative care specialists should be involved early to guide the options of cancer targeted therapies and help the patients and their closed ones with the discussion of comfort-oriented care.
doi:10.4103/1947-2714.170600
PMCID: PMC4683803  PMID: 26713296
Cancer; hypercalcemia; parathyroid hormone related peptide; vitamin D
16.  Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis 
BMC Pediatrics  2002;2:4.
Background
Disaccharide Intolerance Type I (Mendelian Interance in Man database: *222900) is a rare inborn error of metabolism resulting from mutation in sucrase-isomaltase (Enzyme Catalyzed 3.2.1.48). Usually, infants with SI deficiency come to attention because of chronic diarrhea and nutritional evidence of malabsorption.
Case Presentation
We describe an atypical presentation of this disorder in a 10-month-old infant. In addition to chronic diarrhea, the child displayed severe and chronic hypercalcemia, the evaluation of which was negative. An apparently coincidental right orbital hemangioma was detected. Following identification of the SI deficiency, an appropriately sucrose-restricted, but normal calcium diet regimen was instituted which led to cessation of diarrhea, substantial weight gain, and resolution of hypercalcemia.
Conclusions
This case illustrates that, similar to congenital lactase deficiency (Mendelian Interance in Man database: *223000, Alactasia, Hereditary Disaccharide Intolerance Type II), hypercalcemia may complicate neonatal Sucrase-Isomaltase deficiency. Hypercalcemia in the presence of chronic diarrhea should suggest disaccharide intolerance in young infants.
doi:10.1186/1471-2431-2-4
PMCID: PMC111192  PMID: 12014995
17.  Uncommon renal tumors in children: A single center experience 
Aims:
Scrutiny over the clinical behaviors, management, and the final outcome of some rare renal neoplasm in order to find out some hidden facts about these tumors which are playing an important role in the disease course and its management.
Materials and Methods:
Retrospective evaluation of uncommon (non-Wilms’) renal neoplasm in the pediatric population in a tertiary care center. Fifteen cases of uncommon renal tumors were treated in our institution over the last 5 years (January 2008 to December 2012). The cases were tabulated in the form of age, sex, mode of presentation, preoperative investigations, intraoperative grading, pathological type, postoperative management and the final outcome. The patients were followed up for 2 years (clinically every 3 months and ultrasonography abdomen in every 6 months for first 2 years) in order to see any evidence of recurrence and complications related to postoperative chemotherapy.
Results:
Out of 15 cases, four cases were clear cell sarcoma (CCS) (26.6%), three cases were rhabdoid tumor (20%), three cases were congenital mesoblastic nephroma (20%), two cases were multilocular cystic nephroma (13.3%), two cases were renal teratoma (13.3%), and one case of teratoid Wilms’ tumor (6.6%). There were two deaths (one CCS and one rhabdoid tumor) due to chemotherapy-related toxicity but no recurrence. Three patients were lost during postoperative follow-up; ten patients are doing well and getting a regular visit in the follow-up clinic.
Conclusion:
The clinical presentations of these uncommon renal tumors are similar to that of Wilms’ tumor. Thus, preoperative diagnosis is difficult even with modern imaging techniques. Some of these tumors (CCS, rhabdoid tumor) are rapidly progressing and have a poor outcome. Hence, early intervention in the form of complete surgical resection of the tumor (whenever possible) and postoperative chemo/radiotherapy are imperative for fruitful outcome.
doi:10.4103/0971-9261.176940
PMCID: PMC4790130  PMID: 27046976
Clear cell sarcoma; pediatric; renal tumor; rhabdoid tumor; uncommon
18.  Hypercalcemia of Malignancy With Simultaneous Elevation in Serum Parathyroid Hormone–Related Peptide and 1,25-Dihydroxyvitamin D in a Patient With Metastatic Renal Cell Carcinoma 
Objective
To determine the cause of refractory hypercalcemia in a patient with metastatic renal cell carcinoma.
Methods
We describe the clinical, pathologic, and immunostain findings in a patient with metastatic renal cell carcinoma and hypercalcemia of malignancy refractory to intravenous bisphosphonates.
Results
A 57-year-old man with a remote history of clear cell renal cell carcinoma was referred to our clinic for evaluation of resistant hypercalcemia 12 years after nephrectomy. The patient had simultaneous elevation of serum 1,25-dihydroxyvitamin D and parathyroid hormone–related peptide. Computed tomographic scan of the chest and abdomen demonstrated numerous ring-enhancing lesions in the liver, and histologic examination of a biopsy specimen revealed liver tissue infiltrated by a malignant neoplasm composed of cells with clear and eosinophilic cytoplasm, arranged in tubules and nests. Findings were morphologically consistent with renal cell carcinoma of clear cell type, and positive immunostaining with the epithelial markers EMA and CAM 5.2 were supportive of the morphologic impression of renal cell carcinoma. The tumor showed expression of 25-hydroxyvitamin D 1α-hydroxylase by immunostaining. After failing to respond to intravenous bisphosphonates, the hypercalcemia improved with prednisone treatment.
Conclusions
In some patients with renal cell carcinoma, hypercalcemia of malignancy is associated with simultaneous elevation in serum 1,25-dihydroxyvitamin D and parathyroid hormone–related peptide. As our case exemplifies, it is imperative to identify such patients because hypercalcemia due to elevated 1,25-dihydroxyvitamin D levels may respond better to glucocorticoid treatment than to the conventional management with bisphosphonates.
doi:10.4158/EP.15.3.234
PMCID: PMC4237065  PMID: 19364692
hypercalcemia; calcium; 25-hydroxyvitamin D2; 25-hydroxyvitamin D3 1-alpha-hydroxylase; parathyroid hormone; parathyroid hormone-related protein; neoplasms; renal cell carcinoma
19.  Clear cell sarcoma of the kidney misdiagnosed as mesoblastic nephroma: a case report and review of the literature 
ecancermedicalscience  2013;7:311.
Clear cell sarcoma of the kidney (CCSK) is a rare renal neoplasm of paediatrics, making up about 3% of all renal tumours in paediatrics, with a high tendency for developing bone metastasis. A seven year-old boy was referred to our clinic with two firm, large masses over the manubrium of the sternum and right frontal area, which pathologically were confirmed as a metastatic CCSK. The patient had a history of a renal mass three years earlier, for which radical nephrectomy had been performed, and histopathologic diagnosis was compatible with mesoblastic nephroma. Thus, no further investigation and therapy had been applied for the patient. CCSK is a rare but malignant and aggressive paediatric renal tumour, with a high tendency for developing distant bone metastases, leading to its poor prognosis. CCSK could be misdiagnosed as several other renal tumours such as mesoblastic nephroma, and thus CCSK should be taken carefully into consideration in the diagnosis of renal tumours.
doi:10.3332/ecancer.2013.311
PMCID: PMC3634723  PMID: 23634181
clear cell sarcoma of the kidney; sternum; frontal bone; mesoblastic nephroma; bone metastasis
20.  A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia 
Background
Familial Hypocalciuric Hypercalcemia (FHH) is a generally benign disorder caused by heterozygous inactivating mutations in the Calcium-Sensing Receptor (CaSR) gene resulting in altered calcium metabolism.
Objective
We report a case of unusually severe neonatal FHH due to a novel CaSR gene mutation that presented with perinatal fractures and moderate hypercalcemia.
Case overview
A female infant was admitted at 2 weeks of age for suspected non-accidental trauma (NAT). Laboratory testing revealed hypercalcemia (3.08 mmol/L), elevated iPTH (20.4 pmol/L) and low urinary calcium clearance (0.0004). Radiographs demonstrated multiple healing metaphyseal and rib fractures and bilateral femoral bowing. The femoral deformity and stage of healing were consistent with prenatal injuries rather than non-accidental trauma (NAT). Treatment was initiated with cholecalciferol, 400 IU/day, and by 6 weeks of age, iPTH levels had decreased into the high-normal range. Follow up radiographs demonstrated marked improvement of bone lesions by 3 months. A CaSR gene mutation study showed heterozygosity for a T>C nucleotide substitution at c.1664 in exon 6, resulting in amino acid change I555T in the extracellular domain consistent with a missense mutation. Her mother does not carry the mutation and the father is unknown. At 18 months of age, the child continues to have relative hyperparathyroidism and moderate hypercalcemia but is otherwise normal.
Conclusion
This neonate with intrauterine fractures and demineralization, moderate hypercalcemia and hyperparathyroidism was found to have a novel inactivating missense mutation of the CaSR not detected in her mother. Resolution of bone lesions and reduction of hyperparathyroidism was likely attributable to the natural evolution of the disorder in infancy as well as the mitigating effect of cholecalciferol treatment.
doi:10.1186/1687-9856-2012-13
PMCID: PMC3465174  PMID: 22620673
FHH; Neonatal hyperparathyroidism; Hypercalcemia; NHPT; CaSR; Vit D
21.  Mirror, mirror on the wall: Hypercalcemia as a consequence of modern cosmetic treatment with liquid silicone 
Summary
Background
Hypercalcemia is a common problem in clinical practice and can be related to endocrine disorders or malignant disease, especially in elderly patients. Although rare, other causes can also be responsible.
Case Report
Granulomatous inflammation of the skin and lymph nodes induced by intravenous or injectable silicone is a rare condition of hypercalcemia that is usually not within the scope of differential diagnosis. Here, we report a 72-year-old woman with symptomatic hypercalcemia related to cosmetic treatment of the neck. Topical applied liquid silicone by means of a focal ultrasound device induced extensive granulomatous inflammation of the skin and local lymph nodes, being the underlying cause for hypercalcemia in this case.
Conclusions
In rare cases, symptomatic hypercalcemia can be caused by silicone due to a severe granulomatous tissue reaction. This is the first time that a transdermal silicone treatment has been reported to cause severe granulomatous tissue inflammation.
doi:10.12659/MSM.882450
PMCID: PMC3560594  PMID: 22293885
hypercalcemia; granulomatous inflammation; silicone; ultrasound treatment
22.  An Interesting Case of Life-Threatening Hypercalcemia Secondary to Atypical Parathyroid Adenoma versus Parathyroid Carcinoma 
Case Reports in Medicine  2014;2014:473814.
Context. Severe hypercalcemia is a life-threatening condition. Atypical parathyroid adenoma and parathyroid carcinomas are uncommon causes which can be difficult to differentiate. Objective. We report a case of a 36-year-old male with very high serum calcium due to a possible atypical parathyroid adenoma versus parathyroid carcinoma. Case Illustration. A serum calcium level of 23.2 mg/dl was noted on admission. He was initially treated with IV hydration, pamidronate, and salmon calcitonin to lower his calcium levels. He also underwent a surgical en bloc resection of parathyroid mass. Pathology showed a mixed picture consistent with possible atypical adenoma versus parathyroid carcinoma. However, due to the possible involvement of the recurrent laryngeal nerve, parathyroid carcinoma was more likely. Also after operation the patient developed hungry bones syndrome and his calcium was replaced vigorously. He continues to be on calcium, vitamin D, and calcitriol supplementation. Results. A review of the literature was conducted to identify previous studies pertaining to parathyroid adenomas and parathyroid cancer. Conclusion. We thereby conclude that hypercalcemia requires very careful monitoring especially after operation. Also it can be very difficult to distinguish between atypical parathyroid adenomas and parathyroid carcinomas as in our case and no clear cut guidelines yet exist to differentiate the two based on histology.
doi:10.1155/2014/473814
PMCID: PMC4053223  PMID: 24959180
23.  Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report 
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by defective bone mineralization caused by a deficiency in alkaline phosphatase (ALP) activity due to mutations in the tissue-nonspecific ALP (TNALP) gene. The clinical expression of the disease is variable. Six forms of HPP are identified according to age at presentation and clinical features. Patients with the infantile form are normal at birth. First symptoms appear within the first 6 months of life. Along with skeletal findings, HPP patients may present with hypercalcemia, seizures, pseudotumor cerebri, and pulmonary insufficiency. Seizures in HPP are refractory to conventional antiepileptic drugs, but are responsive to pyridoxine. Herein, we report a case of HPP who presented with pyridoxine-responsive seizures in the early neonatal period and was found to have hypercalcemia, skeletal demineralization and increased intracranial pressure. Key words: Hypophosphatasia, pyridoxine-responsive seizures, bisphosphonates, alkaline phosphatase, bone resorption, hypercalcemia
Conflict of interest:None declared.
doi:10.4274/jcrpe.473
PMCID: PMC3316461  PMID: 22394703
Hypophosphatasia; pyridoxine-responsive seizures; bisphosphonates; Alkaline phosphatase; bone resorption; hypercalcemia
24.  Hypercalcemia of Malignancy and Colorectal Cancer 
World journal of oncology  2016;7(1):5-12.
Our aim is to describe the association between colorectal cancer (CRC) and humoral hypercalcemia of malignancy (HHM). Causes of hypercalcemia of malignancy include parathyroid hormone-related peptide (PTHrP) secretion, local osteolysis, calcitriol production and ectopic parathyroid hormone (PTH) secretion. Hypercalcemia of malignancy in patients with CRCs is a rare scenario. A patient with anal squamous cell carcinoma was admitted with hypercalcemia, suppressed PTH and hypophosphatemia. He was found to have metastatic anal squamous cell carcinoma to the liver. Further evaluation revealed elevated PTHrP and 1,25-dihydroxyvitamin D and low 25-hydroxyvitamin D. Over a 5-month course, the hypercalcemia responded poorly to bisphosphonates, transiently to prednisone, but showed marked improvement with chemotherapy. A review of English language publications in Pubmed and a reference search of retrieved articles revealed 29 cases of CRC causing PTHrP-mediated hypercalcemia. Most patients were middle-aged men (mean ± SD: 56.7 ± 13.4 years), with advanced metastatic cancer (85% with hepatic metastasis) and severe hypercalcemia (mean ± SD: 15.6 ± 1.9 mg/dL, 62% with Ca > 14). This condition is associated with high mortality (79%) and short survival (median 54.5 days, CI: 21 - 168). Despite being uncommon, HHM (PTHrP-mediated) should be considered in patients with metastatic CRC presenting with hypercalcemia. Clinicians should be aware that combined etiologies may be present, particularly in cases of resistant hypercalcemia. Treatment of the underlying malignancy is essential for calcium control.
doi:10.14740/wjon953w
PMCID: PMC4797652  PMID: 26998187
Hypercalcemia; Parathyroid hormone-related peptide; Calcitriol; Colorectal cancer; Combined mechanism of hypercalcemia
25.  The Biochemical Profile of Familial Hypocalciuric Hypercalcemia and Primary Hyperparathyroidism during Pregnancy and Lactation: Two Case Reports and Review of the Literature 
Case Reports in Endocrinology  2016;2016:2725486.
Background. Primary hyperparathyroidism (PHPT) and Familial Hypocalciuric Hypercalcemia (FHH) result in different maternal and fetal complications in pregnancy. Calcium to creatinine clearance ratio (CCCR) is commonly used to help distinguish these two conditions. Physiological changes in calcium handling during pregnancy and lactation can alter CCCR, making it a less useful tool to distinguish PHPT from FHH. Cases. A 25-year-old female presented with hypercalcemia and an inappropriately normal PTH. Her CCCR was 0.79% before pregnancy and rose to 1.99% in her second trimester. The proband's mother and neonate had asymptomatic hypercalcemia. Genetic analysis revealed a CaSR mutation consistent with FHH. A 19-year-old female presented with a history of nephrolithiasis who underwent emergent caesarean section at 29 weeks of gestation for severe preeclampsia. At delivery, she was diagnosed with hypercalcemia with an inappropriately normal PTH and a CCCR of 2.67%, which fell to 0.88% during lactation. Parathyroidectomy cured her hypercalcemia. Pathology confirmed a parathyroid adenoma. Conclusion. These cases illustrate the influence of pregnancy and lactation on renal calcium indices, such as the CCCR. To avoid diagnostic error of women with hypercalcemia during pregnancy and lactation, calcium biochemistry of first-degree relatives and genetic testing of select patients are recommended.
doi:10.1155/2016/2725486
PMCID: PMC5120212  PMID: 27957351

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