Dataset Information

DELAYED DIAGNOSIS OF A HYPER FUNCTIONING PARATHYROID CYST. A CASE REPORT AND GENETIC ANALYSIS.

ABSTRACT:

Objective

Parathyroid cyst is a rare disorder of the parathyroid, with a clinical presentation ranging from a nonsymptomatic mass to severe acute parathyroid crisis. We present here a case of a 73-year-old man who had a neck mass for 5 months before presenting to the emergency room with symptoms of severe hypercalcemia. The investigations during his admission led to the suspicion of a hyperfunctioning parathyroid cyst causing the hyperparathyroidism. Total parathyroidectomy was done. The mass was resected and confirmed to be a functional parathyroid cyst. Patient's calcium levels returned to normal after excision. Genetic analysis of the mass showed a single missense mutation c.2164G>A (NM_000215), p.Val722ile (NP_000206) was identified representing the single-nucleotide polymorphism rs3213409 in the JAK3 gene.

Conclusion

Parathyroid cysts, although rare, should be considered in a patient with a neck mass and hypercalcemia, We discussed the findings of our genetic analysis.

SUBMITTER: Alghamdi KB

PROVIDER: S-EPMC6535302 | biostudies-literature | 2016 Apr-Jun

REPOSITORIES: biostudies-literature

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Publications

DELAYED DIAGNOSIS OF A HYPER FUNCTIONING PARATHYROID CYST. A CASE REPORT AND GENETIC ANALYSIS.

Alghamdi K B KB AlReefi M A MA

Acta endocrinologica (Bucharest, Romania : 2005) 20160401 2

<h4>Objective</h4>Parathyroid cyst is a rare disorder of the parathyroid, with a clinical presentation ranging from a nonsymptomatic mass to severe acute parathyroid crisis. We present here a case of a 73-year-old man who had a neck mass for 5 months before presenting to the emergency room with symptoms of severe hypercalcemia. The investigations during his admission led to the suspicion of a hyperfunctioning parathyroid cyst causing the hyperparathyroidism. Total parathyroidectomy was done. The ...[more]

PMID: 31149089

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Project description:BackgroundThe hallmark of hyperparathyroidism is hypersecretion of parathyroid hormone (PTH) which results in hypercalcemia and hypophosphatemia. While hypercalcemia due to malignancy is often brought about by PTH-related protein in adults, PTH-producing tumors are quite rare in clinical practice. Additionally, from the point of embryology, it is very difficult to examine ectopic PTH-producing tissue such as ectopic parathyroid glands. Furthermore, clear histopathological criteria are not present.Case presentationA 57-year-old woman was referred to our hospital for hypercalcemia. Her parathyroid hormone (PTH) level was elevated, but there were no enlarged parathyroid glands. Although 99mTc-MIBI confirmed a localized and slightly hyperfunctioning parathyroid tissue in the anterior mediastinum, it was not typical as hyperfunctioning parathyroid. We finally diagnosed her as ectopic PTH-producing cyst-like tumor with venous sampling of PTH. She underwent anterosuperior mediastinal ectopic PTH-producing cyst-like tumor resection. It is noted that intact-PTH concentration of the fluid in the cyst was very high (19,960,000 pg/mL). Based on histopathological findings, we finally diagnosed her as ectopic PTH-producing parathyroid cyst inside the thymus. After resection of anterosuperior mediastinal thymus including ectopic PTH-producing parathyroid cyst, calcium and intact-PTH levels were decreased, and this patient was discharged without any sequelae.ConclusionsWe should know the possibility of superior mediastinal ectopic PTH-producing parathyroid cyst inside the thymus among subjects with ectopic PTH-producing parathyroid glands. Particularly when the cyst is present in the superior mediastinum, it is necessary to do careful diagnosis based on not only positive but also negative findings in 99mTc-MIBI. It is noted that the patient's bloody fluid in the cyst contained 19,960,000 pg/mL of intact-PTH, and its overflow into blood stream resulted in hyperparathyroidism and hypercalcemia. Moreover, in such cases, the diagnosis is usually confirmed after through histological examination of ectopic PTH-producing parathyroid glands. We think that it is very meaningful to let clinicians know this case.

Project description:The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon primary combined immunodeficiency disease caused by CD40L gene mutations. A delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical immunoglobulin profile and phenotype of some patients, low recognition, and limited knowledge of clinicians on XHIGM in some underdeveloped areas. Opportunistic infections are a prominent clinical feature of XHIGM. However, toxoplasma encephalitis occurs sporadically and is extremely rare in patients with XHIGM.A 2 years and 10 months' old male suffered from 3 times of serious infection since 1 year and 4 months of age. Although with history of recurrent respiratory infections, protracted diarrhea, persistent or intermittent neutropenia companioned with oral ulcer, and a typical immunoglobulin profile during his second disease attack, the consideration of XHIGM was still completely ignored because of our low recognition and limited knowledge of this disorder. The diagnosis of XHIGM was ultimately confirmed by detection of elevated serum IgM concentration, decreased serum IgG and IgE concentration, and identification of a mutation c.654C>A (p.C218X) in CD40L gene. Given clinical manifestation of lethargy, uncontrollable somnolence and ataxia, a cat/dog exposure history, positive serum Toxoplasma gondii (T gondii) IgM, positive cerebrospinal fluid T gondii PCR results, and typical characteristics of brain magnetic resonance imaging as multiple rings liked nodules lesions in bilateral cerebral hemisphere cortex, bilateral basal ganglia, and dorsal thalamus, the diagnosis of toxoplasmic encephalitis was considered during his third disease attack. Thereafter, oral administration of sulfadiazine and azithromycin, intravenous immunoglobulin, and subcutaneous injection of G-CSF were initiated. Regrettably, the patient abandoned the treatment because of economic factor and died 3 months after discharge.A more thorough clinical history and some features like recurrent respiratory infections, protracted diarrhea, and persistent or intermittent neutropenia companioned with oral ulcer could increase clinical suspicion of XHIGM. Cerebral toxoplasmosis is rare in patients with XHIGM, but still should be considered. The present study firstly reported a delayed diagnosed case of XHIGM with CD40L gene c.654C>A (p.C218X) mutant complicated with toxoplasma encephalitis in Chinese population, which highlighted the importance of CD40-CD40L interaction in cell-mediated immunity against T gondii.

Dataset Information

DELAYED DIAGNOSIS OF A HYPER FUNCTIONING PARATHYROID CYST. A CASE REPORT AND GENETIC ANALYSIS.

Objective

Conclusion

Publications

DELAYED DIAGNOSIS OF A HYPER FUNCTIONING PARATHYROID CYST. A CASE REPORT AND GENETIC ANALYSIS.

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