scholarly journals Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A188-A188
Author(s):  
Sahar A Elsheikh ◽  
Henry M Blunk ◽  
Scott Wilhelm
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Primary Hyperparathyroidism ◽  
Calcium Homeostasis ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Management Approach ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Surgical Options ◽  
Type 3

Abstract Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder caused by dysfunctional calcium homeostasis. Thus far, three types of FHH are known to be caused by mutations inCASR (FHH1), GNA11 (FHH2), and AP2S1 (FHH3). The patient in this case report is a 36-year old male that initially presented for a second opinion after being diagnosed with Primary Hyperparathyroidism(PHPT) with subsequent parathyroidectomy done at another institute, and developed recurrent symptomatic hypercalcemia. Prior to considering this patient for further surgical options, he underwent genetic testing, which revealed he had c.43C>T (p.Arg15Cys) mutation in the AP2S1 gene diagnostic of Familial Hypocalciuric Hypercalcemia Type 3 (FHH3). The patient’s father and sister also have hypercalcemia, and have been offered genetic testing. There have been cases reported of patients with FHH3 that have symptomatic hypercalcemia and that have associated cognitive issues. Many patients with FHH can be misdiagnosed and may undergo unnecessary parathyroidectomy. This case report further elucidates the need to raise awareness of FHH.

scholarly journals A Hong Kong Chinese kindred with familial hypocalciuric hypercalcaemia caused by AP2S1 mutation

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1612
Author(s):  
Felix Chi Kin Wong ◽  
Wai Sheung Wong ◽  
Jeffrey Sung Shing Kwok ◽  
Teresa Kam Chi Tsui ◽  
Kam Piu Lau ◽  
...  
Keyword(s):  
Hong Kong ◽  
Genetic Testing ◽  
Primary Hyperparathyroidism ◽  
Calcium Homeostasis ◽  
English Literature ◽  
Genetic Disorder ◽  
Plasma Calcium ◽  
Hong Kong Chinese ◽  
Type 3

Familial hypocalciuric hypercalcaemia (FHH) is a genetic disorder of altered calcium homeostasis. Mutations in the CASR, GNA11 and AP2S1 genes have been reported to cause FHH. We report a Hong Kong Chinese kindred with FHH type 3 (FHH3) caused by mutations in AP2S1. The proband, a 51-year-old woman with hypercalcaemia, was initially diagnosed to have primary hyperparathyroidism but repeated parathyroidectomy failed to normalize her plasma calcium concentrations. Later, FHH was suspected and yet no mutations were identified in the CASR gene which causes FHH type 1 (FHH1), the most common form of FHH. Genetic testing of AP2S1 revealed a heterozygous c.43C>T (p.Arg15Cys) mutation, confirming the diagnosis of FHH3. The elder brother and niece of the proband, who both have hypercalcaemia, were found to harbour the same mutation. To our knowledge, this is the first Chinese kindred of FHH3 reported in the English literature.

scholarly journals A Challenging Case of a Physeal Bar Endoscopic-Assisted Resection in a Short Stature Child: Case Report and Literature Review

2021 ◽  
pp. 115-120
Author(s):  
Melanie Ribau ◽  
Mário Baptista ◽  
Nuno Oliveira ◽  
Bruno Direito Santos ◽  
Pedro Varanda ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Short Stature ◽  
Clinical Presentation ◽  
Normal Growth ◽  
Limb Length Discrepancy ◽  
Complete Excision ◽  
Physeal Bar ◽  
Surgical Options ◽  
The Ideal

Partial physeal bars may develop after injury to the growth plate in children, eventually leading to disturbance of normal growth. Clinical presentation, age of the patient, and the anticipated growth will dictate the best treatment strategy. The ideal treatment for a partial physeal bar is complete excision to allow growth resumption by the remaining healthy physis. There are countless surgical options, some technically challenging, that must be weighted according to each case’s particularities. We reviewed the current literature on physeal bars while reporting the challenging case of a short stature child submitted to a femoral physeal bar endoscopic-assisted resection with successful growth resumption. This case dares surgeons to consider all options when treating limb length discrepancy, such as the endoscopic-assisted resection which might offer successful results.

scholarly journals SAT-361 Familial Hypocalciuric Hypercalcemia Type 3: AP2S1 Mutation

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sarah Elizabeth Kerut ◽  
Licy L Yanes Cardozo
Keyword(s):  
Vitamin D ◽  
Primary Hyperparathyroidism ◽  
Parathyroid Gland ◽  
Genetic Mutation ◽  
Urinary Calcium ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Dexa Scan ◽  
High Calcium ◽  
History Of ◽  
Type 3

Abstract Background: Familial hypocalciuric hypercalcemia (FHH) type 3 can appear similar to primary hyperparathyroidism and make the diagnosis of etiology of hypercalcemia challenging. Clinical Case: A 45-year-old man with hypertension and glaucoma was evaluated in clinic for hypercalcemia. His calcium was 12.3 mg/dL (8.4–10.2), PTH 41.9 pg/mL (15–65), Vitamin D 14.8 ng/mL (6.6–49) and phosphorus 1.7 mg/dL (2.7–4.5). He denied history of thiazide diuretic use, fragility fracture, nephrolithiasis and family history of calcium disorders. Further workup revealed normal kidney function, undetectable PTH related peptide and dual-energy x-ray absorptiometry (DEXA) scan with a T-score of -3.3 at spine L1-L4, -2.7 at femoral neck and -2.1 at distal one-third forearm. A 24-hour urine collection revealed a urinary calcium of 42.4 mg/24-hour (100–300) and calcium: creatinine clearance ratio of 0.003. Diagnosis of primary hyperparathyroidism was made despite low urinary calcium as this was thought to be due to vitamin D deficiency. Sestamibi scintigraphy and four-dimensional computed tomography did not localize a parathyroid adenoma, however, the patient was sent to surgery for four gland parathyroid exploration for primary hyperparathyroidism in setting of high calcium and young age with evidence of end-organ failure of osteoporosis. During surgery, three large abnormal parathyroid glands were identified and one normal parathyroid gland. Patient had a three-gland parathyroidectomy with intraoperative drop in PTH by 26.5%. Pathology returned as benign parathyroid tissues. After surgery, patient had persistently elevated calcium level of 12.6 mg/dL and an inappropriately non-suppressed PTH. He was then started on bisphosphonate and cinacalcet for osteoporosis and hypercalcemia, respectively and sent for genetic testing of FHH. His CASR gene was negative but his AP2S1 gene was positive which confirmed the diagnosis of FHH type 3. His calcium responded well to cinacalcet and repeat DEXA scan showed stability of bone mineral density in spine and hip after two years of treatment with bisphosphonate therapy. Conclusion: Familial hypocalciuric hypercalcemia type 3 is caused by an inactivating mutation in the AP2S1 gene. This gene encodes the adaptor-related protein complex 2, sigma 1 subunit which is located downstream from calcium-sensing receptor. This genetic mutation can appear similar to primary hyperparathyroidism in that it produces high levels of calcium and PTH and low phosphorus. Hypercalcemia, however, persists despite removal of parathyroid gland. This genetic mutation can be treated with cinacalcet in patients with high levels of calcium (>1 upper limit of normal) or symptoms of hypercalcemia.

scholarly journals A Novel Variant c.847T>C in CTSK Gene Leading to Pycnodysostosis: A Case Report

2019 ◽  
Vol 12 ◽  
pp. 117954761983723
Author(s):  
Inder Pal Singh Kochar ◽  
Aashish Sethi ◽  
Ayesha Ahamad
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
East Asia ◽  
Short Stature ◽  
Genetic Disorder ◽  
Bone Fragility ◽  
South East Asia ◽  
Homozygous State ◽  
Rare Genetic Disorder ◽  
Novel Variant

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia. We present a case of pycnodysostosis who presented with short stature, acro-osteolysis of distal phalanges, and on genetic testing revealing a variant c.847T>C, p.Y283H, in exon 7 of the CTSK in homozygous state: not reported till date to the best of our knowledge.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (3) ◽  
pp. 473-475 ◽  
Author(s):  
Laura Maria Andrade Silveira ◽  
Andreia Nogueira Ramos ◽  
Isadora Rosado do Amaral ◽  
Vitoria Regina Pedreira de Almeida Rego
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Current Knowledge ◽  
Genetic Disorder ◽  
Mucous Membranes ◽  
Form Part

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

scholarly journals Successful microsurgical clipping of ruptured fusiform aneurysm of the anterior cerebral artery. Case report and review of the literature

2020 ◽  
Vol 11 ◽  
pp. 445
Author(s):  
Revaz Dzhindzhikhadze ◽  
Andrey Polyakov ◽  
Oleg Dreval ◽  
Valeriy Lazarev
Keyword(s):  
Case Report ◽  
Cerebral Artery ◽  
Poor Prognosis ◽  
Anterior Cerebral Artery ◽  
Clinical Presentation ◽  
Review Of The Literature ◽  
Microsurgical Clipping ◽  
Common Clinical Presentation ◽  
Surgical Options ◽  
The Common

Background: Fusiform aneurysms (FA) of the anterior cerebral artery (ACA) are found rarely. The common clinical presentation is a subarachnoid hemorrhage (SAH). Surgery is the main treatment to prevent rebleeding. Case Description: The authors present a case report of the ruptured FA of the ACA. The presented case demonstrates the successful microsurgical clipping of the fusiform ACA aneurysm. Conclusion: A1-segment FA can lead to SAH with poor prognosis. The main goal of surgical treatment is to prevent rebleeding. Direct microsurgical clipping is one of the surgical options.

scholarly journals Hypokalemic periodic paralysis: an unusual presentation of primary hyperparathyroidism

2018 ◽  
Vol 5 (6) ◽  
pp. 2368
Author(s):  
Zahir Hussain S. ◽  
Rakesh Chandru K.
Keyword(s):  
Case Report ◽  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Clinical Presentation ◽  
Periodic Paralysis ◽  
Unusual Presentation ◽  
Hypokalemic Periodic Paralysis ◽  
Prompt Treatment

Primary hyperparathyroidism is an endocrine condition characterized by hyper secretion of parathyroid hormone (PTH). It has a wide varied clinical presentation from mild nonspecific symptoms to classical disease. We herein report two cases of primary hyperparathyroidism who were presented as hypokalemic periodic paralysis. The aim of this case report is to highlight this unusual presentation of primary hyperparathyroidism. Patients presenting with hypokalemic periodic paralysis should be evaluated for the possibility of primary hyperparathyroidism. Surgeons should be aware of this unusual presentation of primary hyperparathyroidism thereby it can be detected earlier, and prompt treatment can be offered before the disease progresses.

Fibrodysplasia Ossificans Progressiva and Its Implications in Podiatric Medicine: A Case Report

2019 ◽  
Vol 109 (4) ◽  
pp. 317-321
Author(s):  
Nicholas Bolognini ◽  
Neil Navendu Trivedi ◽  
Andrew S. Au ◽  
Nishit Vora
Keyword(s):  
Case Report ◽  
Endochondral Ossification ◽  
Pediatric Patients ◽  
Soft Tissues ◽  
Clinical Presentation ◽  
Genetic Disorder ◽  
Surgical Excision ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Irreversible Damage ◽  
Dental Procedures

The purpose of this case report is to show the clinical presentation of a rare genetic disorder, called fibrodysplasia ossificans progressiva, on the development of the foot in a newborn. Shortened great toes and malformations of the first metatarsals are present in all affected individuals at birth. Irreversible heterotopic endochondral ossification of soft tissues occurs in the first decade of life, often resulting in permanent immobility by the third decade of life. Trauma caused by surgical excision of nodules, dental procedures, or injections can further exacerbate this condition. Early diagnosis is imperative for these patients to prevent irreversible damage that may result from unnecessary invasive interventions. This case report presents a boy aged 2 years 3 months who was born with bilateral bunion deformity. The goal is to raise awareness of this disorder in the podiatric community, especially for those who work with pediatric patients.

scholarly journals Misleading localization by 18F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Noha N Mukhtar ◽  
Mohei El-Din M Abouzied ◽  
Mohammed H Alqahtani ◽  
Muhammad M Hammami
Keyword(s):  
Vitamin D ◽  
Genetic Testing ◽  
Serum Calcium ◽  
Calcium Level ◽  
Renal Ultrasound ◽  
Familial Hypocalciuric Hypercalcemia ◽  
Mineral Density ◽  
Pet Ct ◽  
Sigma Subunit ◽  
Type 3

Abstract Background Familial hypocalciuric hypercalcemia (FHH) is a heterogeneous autosomal-dominant disorder of calcium hemostasis that may be difficult to distinguish clinically from mild primary hyperparathyroidism. Loss-of-function mutations mainly involving Arg15 residue of the adaptor-related protein complex 2, sigma subunit 1 (AP2S1) cause a rarer, more recently recognized form of FHH, FFH type-3. Recently, 18F-fluorocholine positron emission tomography/computed tomography (FCH-PET/CT) showed superior sensitivity to conventional imaging in localizing parathyroid adenomas. We report a new FFH type-3 patient who underwent unnecessary parathyroidectomy in association with misleading FCH-PET/CT imaging. Case presentation A 29-year old woman was initially evaluated for parathyroid hormone (PTH)-dependent hypercalcemia in 2013. Medical history was positive only for chronic constipation and malaise with no personal or family history of hypercalcemia, kidney stones, or neck surgery. Over seven years, serum calcium level was 2.51–2.89 mmol/L with concomitant PTH level of 58.7–94.8 mmol/L. Serum phosphate levels were in the low/low normal range. Serum creatinine and magnesium levels were normal. 25-hydroxy vitamin D level was 13 nmol/L. 24-hour urine calcium level was 1.92 mmol/day but increased to 6.99 mmol/day after treatment with cholecalciferol 1000 IU daily. Bone mineral density and renal ultrasound were normal. Parathyroid ultrasound showed two hypoechoic nodules inferior to the left and right thyroid lobes; however, 99mtechnitium-sestamibi scans (2013, 2016, 2018) were negative. FCH-PET/CT (2019) showed focal uptake co-localizing with the nodule inferior to the left thyroid lobe. The patient underwent left inferior parathyroidectomy and pathology was consistent with parathyroid hyperplasia. However, postoperatively, serum calcium and PTH levels remained elevated and FCH-PET/CT and ultrasound showed persistence of the uptake/nodule. Whole exome sequencing showed Arg15Cys mutation in the AP2S1 gene characteristic of FHH type-3. Conclusions In this new case of FHH type-3, FCH-PET/CT failed to localize to the hyperplastic parathyroid glands and localized instead to apparently a lymph node. This, together with increased urinary calcium after vitamin D supplementation, led to unnecessary parathyroidectomy. Given the increasingly lower cost of genetic testing and the cost of follow up and unnecessary surgery, it may prudent to include genetic testing for FHH early on in patients with mild PTH-dependent hypercalcemia.

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