scholarly journals “Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Gerdi Tuli ◽  
Jessica Munarin ◽  
Daniele Tessaris ◽  
Raffaele Buganza ◽  
Patrizia Matarazzo ◽  
...  

Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the clinical features can be heterogeneous, and in some cases, symptoms are vague and nonspecific, leading to misdiagnosis or late diagnosis. Herein, we report two cases of PHPT in pediatric age with different presenting symptoms, pain in the foot, and progressive alteration of the gait in the first case and recurrent abdominal pain with emotional lability in the second. Biochemical and radiological assessment confirmed PHPT. Both cases were treated surgically as definitive treatment, but in the second case, previous medical treatment with cinacalcet, a calcimimetic agent, was required to reduce serum PTH and calcium levels. After surgery, despite conventional treatment with calcium and calcitriol, case 1 developed a hungry bone syndrome. The analysis of the MEN-1 (Multiple Endocrine Neoplasia) gene was negative in both cases. A diagnosis of PHPT should be considered when children or adolescents present bone pain with radiological imaging of osteolytic lesion and biochemical feature of hypercalcemia associated with hypophosphatemia. In PHPT, the gold standard treatment is represented by surgery followed by strict postoperative endocrine monitoring to maintain adequate homeostasis of calcium and bone metabolism.

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A784-A785
Author(s):  
Anku Mehta ◽  
Thomas Galliford ◽  
Rahat Tauni ◽  
Yik Lam Chan

Abstract Introduction: Primary hyperparathyroidism in pregnancy is rare, with a reported incidence of 1%. The physiological changes of pregnancy can mask its diagnosis. Primary hyperparathyroidism is characterized by the overproduction of parathyroid hormone (PTH) and results in hypercalcemia and a raised or inappropriately normal PTH. Maternal and fetal/neonatal complications are estimated to occur in 67 and 80% of untreated cases respectively. Maternal complications include nephrolithiasis, pancreatitis, hyperemesis gravidarum, pre-eclampsia and hypercalcemic crises. Fetal complications include intrauterine growth restriction; preterm delivery and an increased risk of miscarriage. Case reports Case 1: An 18-year old woman presented in her first pregnancy with a known history of MEN type 1. She was diagnosed at the age of 17 following an appendectomy. She has a strong family history and subsequent genetic test confirmed the diagnosis of MEN1. Pre-pregnancy parathyroid sestamibi scan showed bilateral parathyroid adenoma. MRI pituitary was in keeping with a pituitary microadenoma. She had a corrected calcium ranged between 2.7-3.3mmol/L and an inappropriately raised PTH of 24.1pg/ml. She underwent elective parathyroidectomy at 15 week gestation. Post operatively she remained normocalcaemic. She subsequently developed gestational diabetes and was induced at 34 + 3 weeks due to multiple episodes of hypoglycaemia, reduced fetal movement and suspected placental insufficiency. She had a good fetal outcome. Case 2: A 29-year-old woman in her first pregnancy presented with recurrent episodes of renal colic and imaging confirmed significant bilateral renal calculi. A diagnosis of primary hyperparathyroidism was made with adjusted calcium of 2.94 mmol/L (2.20-2.60) and inappropriately unsuppressed parathyroid hormone of 20.1pg/ml (1.6-6.9), along with ultrasound parathyroid. She was managed with fluid rehydration initially and parathyroidectomy was performed at 12 weeks due to persistently elevated serum calcium. Her genetic screening for MEN (multiple endocrine Neoplasia) was negative. Fetal growth was closely monitored and the rest of her pregnancy was uncomplicated. She had an assisted vaginal delivery at term with good fetal outcome. Learning Points: 1. The physiological changes of pregnancy can mask its diagnosis; hence a high index of suspicion is needed to diagnose primary hyperparathyroidism in pregnancy.2. Management with rehydration forms the cornerstone in mild cases and Parathyroidectomy is the definitive treatment and recommended in second trimester. 3. Ultrasound is the only recommended imaging modality in pregnancy.4. Primary hyperparathyroidism can be genetically determined in 10% of cases. Genetic testing enables patients to be screened for the development of other syndrome-related diseases e.g. neuroendocrine tumours in MEN1.


2018 ◽  
Vol 24 (4) ◽  
pp. 182-186
Author(s):  
Samir Abdelqader ◽  
Nicolas Roche ◽  
Laurent Manfredi ◽  
Jean-François Papon ◽  
Louis Maman ◽  
...  

Introduction: Giant-cell granuloma (GCG) is a benign tumor occurring almost exclusively in the jaws. These lesions remain rare but can sometime have an aggressive behavior. In this article, we will describe and follow two cases of GCG. Observations: The first case is a referred female patient, who presents a mandibular swelling. Its clinical and radiological aspects lead us to do a biopsy, with a histological result of GCG. The second case is a patient with a terminal kidney failure, referred for a buccal swelling in the upper left jaw. The cone-beam computed tomography X-ray shows a compartmentalized lesion with blurry limits. An excisional biopsy is performed and the histological diagnosis is a GCG. Discussion: Although the first patient suffers from no systemic disease, the second one presents a terminal kidney failure resulting in a chronic hyperparathyroidism. Hyperparathyroidism can activate osteoclastic resorption and create bone lesions such as brown tumors. Conclusion: The slow and asymptomatic growth of these lesions often result in a late diagnosis. It should be kept in mind as a differential diagnosis when dealing with an osteolytic lesion of the jaws with no clear etiology, especially if hyperparathyroidism or kidney failure is associated.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Margaret C Encarnacion ◽  
Celeste O Ramos ◽  
Eduardo Thomas M Aquino ◽  
Roberto C Mirasol ◽  
Michael L Villa

Abstract Introduction: Parathyroid carcinoma is rare, affecting less than 1% of patients with primary hyperparathyroidism (PHPT). 1 Parathyroid carcinoma with concomitant papillary thyroid carcinoma is also rare, and the etiology is not fully defined. Clinical Case: We present 3 patients with parathyroid carcinoma and discuss their presenting symptoms, characteristics, and treatment. Two women and 1 man (2 Filipinos and 1 Marshallese) with age range 53-68 years old had parathyroid carcinoma. Two had primary hyperparathyroidism, one had non-functioning type of parathyroid carcinoma. Two had concomitant bone or renal disease. All three had concurrent thyroid disease- 2 had papillary thyroid microcarcinoma, one had colloid goiter. Because each one had different indications for neck surgery, different surgical techniques were done. Parathyroid cancer size ranged from 2.0-5.2 cm, with capsular and vascular invasion in all three. One case had double parathyroid carcinoma. No lymph node metastasis was identified. On follow up, the patient with the largest tumor size had tumor recurrence within 1 year from surgery. Conclusion: To the best of our knowledge, this is the first case series on parathyroid carcinoma in the Philippines, and includes the 7th case of double parathyroid carcinoma worldwide. Parathyroid carcinoma is a rare condition, and coupled with its highly variable presentation, as seen in the 3 cases, presents clinicians with a difficulty in arriving at a diagnosis. Histopathology remains the gold standard in diagnosis and is a key in guiding management. Since coexisting thyroid and parathyroid disease may occur, thyroid pathology should be evaluated in the presence of PHPT. References: 1. Elizabeth Shane; Parathyroid Carcinoma, The Journal of Clinical Endocrinology & Metabolism, Volume 86, Issue 2, 1 February 2001, Pages 485-493, https://doi.org/10.1210/jcem.86.2.7207.


2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Saad M. Alqahtani ◽  
Fan Jiang ◽  
Bardia Barimani ◽  
Marie Gdalevitch

Osteomyelitis of the pubis symphysis is a rare condition. There have been various reports in the literature of inflammation and osteomyelitis as well as septic arthritis of pubic symphysis. However, due to the fact that these conditions are rare and that the usual presenting symptoms are very nonspecific, osteomyelitis of the pubic symphysis is often misdiagnosed, thus delaying definitive treatment. We present a case that to our knowledge is the first case in literature of osteomyelitis of the pubic symphysis in a 17-year-old boy with juvenile idiopathic arthritis (JIA), which was initially misdiagnosed and progressed to bilateral adductor abscesses. A high suspicion of such condition should be considered in a JIA patient who presents with symphysis or thigh pain.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Shintaro Hamada ◽  
Tomoaki Takata ◽  
Tsuyoshi Kitaura ◽  
Chiori Teraoka ◽  
Akio Aono ◽  
...  

Abstract Background Peritoneal dialysis (PD)-associated peritonitis caused by nontuberculous Mycobacterium is rare; however, the number of cases has increased over the past decades. Mycobacteroides massiliense is a subspecies of the Mycobacteroides abscessus complex. It has different clinical characteristics compared to the other subspecies of the complex. Previous case reports of PD-associated peritonitis caused by Mycobacteroides abscessus complex have not distinguished the subspecies in detail. Case presentation A 40-year-old man presented with an exit-site and tunnel infection refractory to antibiotic therapy. Peritonitis occurred after simultaneous catheter removal and reinsertion. The Mycobacteroides abscessus complex was detected in the culture of the dialysis effluent. Removal of the PD catheter combined with antibiotics, including macrolides, resulted in a good clinical course. Further analysis of multiplex PCR and the hsp65 gene sequence identified the bacterium as Mycobacteroides massiliense. Conclusions The Mycobacteroides abscessus complex is classified into three subspecies; Mycobacteroides abscessus, Mycobacteroides massiliense, and Mycobacteroides bolletii. These have different characteristics, particularly antibiotic susceptibility. Therefore, clear identification of the subspecies of the Mycobacteroides abscessus complex is necessary for definitive treatment.


2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Moutaz Ragab ◽  
Omar Nagy Abdelhakeem ◽  
Omar Mansour ◽  
Mai Gad ◽  
Hesham Anwar Hussein

Abstract Background Fetus in fetu is a rare congenital anomaly. The exact etiology is unclear; one of the mostly accepted theories is the occurrence of an embryological insult occurring in a diamniotic monochorionic twin leading to asymmetrical division of the blastocyst mass. Commonly, they present in the infancy with clinical picture related to their mass effect. About 80% of cases are in the abdomen retroperitoneally. Case presentation We present two cases of this rare condition. The first case was for a 10-year-old girl that presented with anemia and abdominal mass, while the second case was for a 4-month-old boy that was diagnosed antenatally by ultrasound. Both cases had vertebrae, recognizable fetal organs, and skin coverage. Both had a distinct sac. The second case had a vascular connection with the host arising from the superior mesenteric artery. Both cases were intra-abdominal and showed normal levels of alpha-fetoprotein. Histopathological examination revealed elements from the three germ layers without any evidence of immature cells ruling out teratoma as a differential diagnosis. Conclusions Owing to its rarity, fetus in fetu requires a high degree of suspicion and meticulous surgical techniques to avoid either injury of the adjacent vital structures or bleeding from the main blood supply connection to the host. It should be differentiated from mature teratoma.


2021 ◽  
Vol 28 (4) ◽  
pp. 2317-2325
Author(s):  
Luigi Bennardo ◽  
Francesco Bennardo ◽  
Amerigo Giudice ◽  
Maria Passante ◽  
Stefano Dastoli ◽  
...  

Background: Squamous cell carcinoma (SCC) is one of the most common cancers involving skin and oral mucosa. Although this condition’s gold-standard treatment is the surgical removal of the lesions, the physician must propose alternative treatments in some cases due to the patient’s ineligibility for surgery. Among the available alternative therapies, local chemotherapy may represent an initial treatment in combination with radiotherapy or systemic chemotherapy due to the low frequency of side-effects and the lack of necessity for expensive devices. Methods: In this paper, we review all available literature in various databases (PubMed, Scopus-Embase, Web of Science), proposing local chemotherapy as a treatment for cutaneous and oral SCC. Exclusion criteria included ocular lesions (where topical treatments are common), non-English language, and non-human studies. Results: We included 14 studies in this review. The majority were case reports and case series describing the treatment of non-resectable localized SCC with either imiquimod or 5-fluorouracil. We also analyzed small studies proposing combination treatments. Almost all studies reported an excellent clinical outcome, with a low risk of relapses in time. Conclusions: Resection of the lesion remains the gold-standard treatment for SCC. When this approach is not feasible, local chemotherapy may represent a treatment alternative, and it may also be associated with radiotherapy or systemic chemotherapy.


2021 ◽  
Vol 12 ◽  
pp. 204062232110159
Author(s):  
Ana Kashfia Islam

The parathyroid glands, one of the last organs to be discovered, are responsible for maintaining calcium homeostasis, and they continue to present the clinician with diagnostic and management challenges that are reviewed herein. Primary hyperparathyroidism (PHPT) comprises the vast majority of pathology of the parathyroid glands. The classic variant, presenting with elevated calcium and parathyroid hormone levels, has been studied extensively, but the current body of literature has added to our understanding of normocalcemic and normohormonal variants of PHPT, as well as syndromic forms of PHPT. All variants can lead to bone loss, kidney stones, declining renal function, and a variety of neurocognitive, gastrointestinal, and musculoskeletal complaints, although the majority of PHPT today is asymptomatic. Surgery remains the definitive treatment for PHPT, and advances in screening, evolving indications for surgery, new imaging modalities, and improvements in intra-operative methods have greatly changed the landscape. Surgery continues to produce excellent results in the hands of an experienced parathyroid surgeon. For those patients who are not candidates for surgery, therapeutic advances in medical management allow for improved control of the hypercalcemic state. Parathyroid cancer is extremely rare; the diagnosis is often made intra-operatively or on final pathology, and recurrence is common. The mainstay of treatment is normalization of serum calcium via surgery and medical adjuncts.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Caroline Bartolo ◽  
Victoria Hall ◽  
N. Deborah Friedman ◽  
Chloe Lanyon ◽  
Andrew Fuller ◽  
...  

Abstract Background Sodium-glucose co-transporter 2 (SGLT2) inhibitors are novel hypoglycemic agents which reduce reabsorption of glucose at the renal proximal tubule, resulting in significant glycosuria and increased risk of genital mycotic infections (GMI). These infections are typically not severe as reported in large systematic reviews and meta-analyses of the medications. These reviews have also demonstrated significant cardiovascular benefits through other mechanisms of action, making them attractive options for the management of Type 2 diabetes mellitus (T2DM). We present two cases with underlying abnormalities of the urogenital tract in which the GMI were complicated and necessitated cessation of the SGLT2 inhibitor. Case presentations Both cases are patients with T2DM on empagliflozin, an SGLT2 inhibitor. The first case is a 64 year old man with Candida albicans balanitis and candidemia who was found to have an obstructing renal calculus and prostatic abscess requiring operative management. The second case describes a 72 year old man with Candida glabrata candidemia who was found to have prostatomegaly, balanitis xerotica obliterans with significant urethral stricture and bladder diverticulae. His treatment was more complex due to fluconazole resistance and concerns about urinary tract penetration of other antifungals. Both patients recovered following prolonged courses of antifungal therapy and in both cases the SGLT2 inhibitor was ceased. Conclusions Despite their cardiovascular benefits, SGLT2 inhibitors can be associated with complicated fungal infections including candidemia and patients with anatomical abnormalities of the urogenital tract may be more susceptible to these infections as demonstrated in these cases. Clinicians should be aware of their mechanism of action and associated risk of infection and prior to prescription, assessment of urogenital anatomical abnormalities should be performed to identify patients who may be at risk of complicated infection.


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