One case of misdiagnosis of 22q11.2 deletion syndrome with ovarian mixed germ cell tumor / 中华内分泌代谢杂志

Idiopathic hypoparathyroidism is a rare endocrine disease. It is often manifested as neuropsychiatric symptoms, especially epileptic seizures. Thus, it is easy to be misdiagnosed as primary epilepsy. The following case report details the diagnosis of a 17-year-old girl who had been misdiagnosed as primary epilepsy for a long time. She was found hypoparathyroidism during the hospitalization for the operation of ovarian mixed germ cell tumor. After whole exome sequencing, she was ultimately diagnosed as 22q11.2 deletion syndrome. This case suggested that clinicians should be aware of the possibility of hypoparathyroidism in adolescent epilepsy, especially hereditary hypoparathyroidism. At the same time, the possible high risk of tumors should also be considered in hereditary hypoparathyroidism.

Idiopathic Hypoparathyroidism in a Cerebral Palsy Child Presenting with Extensive Intracranial Calcifications: A Rare Case Report

Introduction: Hypoparathyroidism is a rare endocrinedisorder characterized by low serum calcium and parathyroidhormone levels. The most common cause is iatrogenic surgicalremoval. However, idiopathic primary hypoparathyroidismis to be kept in mind especially in children as a cause ofhypoparathyroidism. Since PTH is important in calciumhomeostasis, this condition may cause ectopic calcifications,including intra cerebral calcifications, though rare.Case report: 11 year old MCH,with history of birth asphyxiaand global developmental delay was presented to emergencywith seizures. The child had seizures since the age of 5years,and wasn’t on regular treatment. The patient was admittedwith a provisional diagnosis of Cerebral Palsy with seizuredisorder with polymorphic seizures was made and treatedconservatively. Neuroimaging showed bilateral symmetriccalcification in basal ganglia,thalami and capsule. A completeworkup showed low serum calcium, high serum phosphorusand low parathormone. Calcium supplementation was givenand seizures was made under control.Conclusion: Idiopathic hypoparathroidism, though rarely, asit was in our case, may cause exuberant cerebral presentationswith extensive intracranial calcifications and extremehypocalcemia which may or may not correlate with severity ofsymptoms. Not only this is a treatable disorder that may havedangerous implications if untreated, but also its symptomsmay be completely reversed with prompt treatment.

Association of GNA11 gene polymorphisms with idiopathic hypoparathyroidism and its complications / 基础医学与临床

Objective To investigate the association of GNA 11 gene polymorphisms with idiopathic hypoparathyroidism (IHP) and its complications. Methods Two hundred and three patients with IHP and 209 control subjects were recruited at Peking Union Medical College Hospital from December 1987 to December 2015. The GNA11 gene polymorphisms were selected and genotyped by Sequenom MassArray iPLEX system.Results The minor allele T of rs308060 was associated with an increased risk of IHP in the additive [OR = 2.505(1.005-6.245) , P＜0.05; OR=3.269(1.264-8.458), P＜0.05]and recessive model[OR= 2.727(1.105-6.727), P＜0.05]. Although no significant difference was found in the incidence of intracranial calcification and cataract in IHP patients, the haplotype CTCGCT consisting of minor allele T of rs308060 was correlated with their 24 hours urinary calcium levels (β = 0. 186, P＜0.05). Conclusions The minor allele T of rs308060 in GNA11 means high risk of IHP, and is positively correlated with urinary calcium excretion in IHP patients after treatment with oral calcium and vitamin D analogs supplements.

Psychosis, Idiopathic Hypoparathyroidism and Basal Ganglia Calcification: A Case Report of Fahr’s Syndrome

Making a medical diagnosis in an elderly person presenting with first time psychiatric symptoms can be challenging. A 61 year old lady presented with 4 years history of tactile hallucinations in her legs and delusions of persecution, and 2 weeks history of depression and mild cognitive impairment. There were no other significant physical findings, except for dysarthria and fine bilateral hand tremors. As patient had no prior psychiatric history, she was investigated for differential diagnoses of late-onset schizophrenia, psychotic depression and early dementia. A thorough investigation for concomitant medical illnesses was done which revealed low serum calcium, high serum phosphate and relatively low serum parathyroid hormone levels. A diagnosis of Fahr’s syndrome (FS) was made based on history, hematological findings of idiopathic hypoparathyroidism and bilateral basal ganglia calcifications (BGC) on neuroimaging. Treatment of FS is non-specific and mainly symptomatic. This patient improved with treatment comprising antidepressant, antipsychotic and calcium supplement.

A Case of Acute Suppurative Thyroiditis Complicated by Hypocalcemia / 대한내과학회지

We report a case of acute suppurative thyroiditis complicated by idiopathic hypoparathyroidism. The patient was a 49-year-old female who visited our clinic with a painful goiter on the left lobe of the thyroid gland. She was hypocalcemic, which was accompanied unusually by acute suppurative thyroiditis. She also suffered from tetany of both hands and legs. She had undergone a right subtotal thyroidectomy at another hospital 23 years previously due to a benign thyroid nodule. Intact parathyroid hormone (PTH) levels were increased, but other laboratory findings were normal. No special treatment was administered for the acute suppurative thyroiditis, except antibiotics, to observe its natural course. Her PTH levels decreased and serum calcium returned to normal. The complication of acute suppurative thyroiditis suggested the possible involvement of idiopathic hypoparathyroidism.

Idiopathic hypoparathyroidism: A rare cause of reversible heart failure / 대한내과학회지

A 65-year-old woman presented with acute pulmonary edema, generalized tetany, and paresthesia. She had severe hypocalcemia, a low intact parathyroid hormone level, and her echocardiogram revealed left ventricular dysfunction. She had no history of heart failure or thyroid surgery. The heart failure improved after calcium replacement and conventional heart failure management. She was diagnosed with hypocalcemia-induced heart failure caused by idiopathic hypoparathyroidism. Despite the crucial role of calcium in myocardial contractility, hypocalcemia is rarely reported as a cause of heart failure. In conclusion, plasma calcium should be measured in the initial workup of all patients with heart failure, and corrected if hypocalcemia is seen. Idiopathic hypoparathyroidism is a rare cause of reversible heart failure that should be considered in the etiologic assessment.

Striopallidodentate Calcification and Progressive Supranuclear Palsy-Like Phenotype in a Patient with Idiopathic Hypoparathyroidism

We present a 77-year-old woman with levodopa-nonresponsive parkinsonism, dementia, and supranuclear gaze palsy on vertical and horizontal gaze. Laboratory findings were consistent with idiopathic hypoparathyroidism, and brain computed tomography showed extensive bilateral calcifications of the basal ganglia, centrum semiovale, dentate nuclei, and cerebellar white matter. These results illustrate that striopallidodentate calcification due to hypoparathyroidism may present with symptoms mimicking progressive supranuclear palsy.

A Case of the Milk-alkali Syndrome During Management of Idiopathic Hypoparathyroidism / 대한내분비학회지

Idiopathic hypoparathyroidism is a relatively rare disease characterized by hypocalcemia and hyperphosphatemia: this is due to a deficiency or a sereretory disorder of the parathyroid hormone without any prior operation nor underlying medical disoder. Calcium carbonate and vitamin D substitution are generally considered as the mainstay of therapy, but these treatments can cause hypercalcemia and hypercalciuria. Persistent ingestion of large amount of calcium carbonate can cause milk-alkali syndrome that is characterized by hypercalcemia, metabolic alkalosis and renal failure. Once a patient is diagnosed with milk-alkali syndrome, withdrawal of calcium carbonate and vitamin D is essential and treatment with saline diuresis and furosemide is the usually effective. In treatmenf of hypoparathyroidism with calcium carbonate and vitamin D substitution, evaluation of serum calcium and urinary calcium excretion is essential to avoid hypercalcemia and ypercalciuria. We concluded that during treatment with calcium carbonate and vitamin D substitution for patients with idiopathic hypoparathyroidism, they should have carefully laboratory monitoring, and they should be made aware of the circumstances influencing calcium metabolism

A Case of the Milk-alkali Syndrome During Management of Idiopathic Hypoparathyroidism / 대한내분비학회지

Idiopathic hypoparathyroidism is a relatively rare disease characterized by hypocalcemia and hyperphosphatemia: this is due to a deficiency or a sereretory disorder of the parathyroid hormone without any prior operation nor underlying medical disoder. Calcium carbonate and vitamin D substitution are generally considered as the mainstay of therapy, but these treatments can cause hypercalcemia and hypercalciuria. Persistent ingestion of large amount of calcium carbonate can cause milk-alkali syndrome that is characterized by hypercalcemia, metabolic alkalosis and renal failure. Once a patient is diagnosed with milk-alkali syndrome, withdrawal of calcium carbonate and vitamin D is essential and treatment with saline diuresis and furosemide is the usually effective. In treatmenf of hypoparathyroidism with calcium carbonate and vitamin D substitution, evaluation of serum calcium and urinary calcium excretion is essential to avoid hypercalcemia and ypercalciuria. We concluded that during treatment with calcium carbonate and vitamin D substitution for patients with idiopathic hypoparathyroidism, they should have carefully laboratory monitoring, and they should be made aware of the circumstances influencing calcium metabolism

Clinical observations of idiopathic hypoparathyroidism / 대한내과학회지

BACKGROUND: Idiopathic hypoparathyroidism is a relatively rare disease characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone deficiency of unknown cause. It usually develop at young age and various clinical symptoms and signs accompanied with hypocalcemia develop at late period. And rarely associated with polyglandular autoimmune syndrome during follow-up. So we reviewed retrospectively our clinical experiences in diagnosis and management. METHODS: We observed the 6 cases with idiopathic hypoparathyroidism from 1986 to 2002. Four female and two male patients were examined demographic characteristics, clinical manifestations, laboratory findings, radiologic finding, and occurrence of polyglandular autoimmune syndrome. RESULTS: All patients aged from 18 to 51 years and had no familial history. The most frequent two symptoms of idiopathic hypoparathyroidism were paresthesia (67%) and tetany (67%). The incidence of Chvostek's and Trousseau's sign were 83% and 67%, respectively. From the history taking, patient who had psychotic problem was two, ocular lesion was two, and Graves's disease was one before admission. One patient had transient hypogonadism because of acute illness but recovered during follow-up. One patient developed primary adrenal insufficiency after 2 years. Neuroimaging study revealed bilateral calcification and ECG showed Q-T interval prolong. CONCLUSION: Idiopathic hypoparathyroidism may be suspected in patients with various neurologic symptoms and signs associated with hypocalcemia. It was difficult to predict other endocrine dysfunction at diagnosis. Therefore, we need to follow-up laboratory examinations for early detection of accompanied autoimmune disease in idiopathic hypoparathyroidism patient.

A Case of Acute Renal Failure Caused by Toxic Epidermal Necreolysis Combined with Rhabdomyolysis in A Patient with Idiopathic Hypoparathyroidism / 대한신장학회잡지

Idiopathic hypoparathyroidism is extremely rare disease. We experienced an interesting case of idiopathic hypoparathyroidism associated with acute renal failure caused by toxic epidermal necrelysis combined with rhabdomyolysis. This 36-years-old male patient was suffered from bullous erythematous scalding skin lesion on lower extremity, back, and chest. After 10 days, he was admitted with the chief complaints of generalized seizure, carpopedal spasm, stuporous mentality. Skin biopsy showed edematous change with extravasated erythrocytes in upper dermis and several individually necrotic keratinocytes. On laboratory finding, marked decreased serum PTH level were demonstrated. Increased muscle uptake of technetium-99m MDP were noticed on bone scan. Prolonged Q-T interval on electrocardiogram was also noted. We could diagnose his disease as severe hypocalcemia(hypocalcemic crisis) developed associated with acute renal failure caused by toxic epidermal necrolysis combined with rhabdomyolysis in patient with idiopathic hypoparathyroidism. He was treated by hydration, urine alkalinization, 2 times of hemodialysis and supplementary calcium, vitamin D during the admission.

A case of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Presented with Idiopathic Hypoparathyroidism and Diabetes Mellitus / 대한류마티스학회지

Diffuse Idiopathic Skeletal Hyperostosis (DISH) is a skeletal disease characterized by ligamentous ossification of the anterolateral side of the spine. Paravertebral and ligamentous ossification appears to be an usual complication of hypoparathyroidism. Diabetes Mellitus has often been mentioned in associated with DISH. The patient was presented with back pain, stiffness and intermittent numbness of hands and feet. Spine X-ray showed extensive ligamentous ossification of the anterolateral side of the spine with normal disc space height. Sacroiliac joints are normal. Increased bone mineral density of the L-spine and femur neck was observed, as well. Hypocalcemia, hyperphophatemia and low intact parathyroid hormone level were detected. Postprandial sugar were elevated. HLA B27 was negative.

Some Special Problems concerning Idiopathic Hypoparatbyroidism / 第三军医大学学报

There have been more than 100 cases of idiopathic hypoparathyroidism(IHP) reported in our country. The 8 cases reported in this paper showed some special features in the clinical manifestations, the biochemical parameters, and the response to treatment.Clinical, one case was complicated with Klinefelter's syndrome. Another case suffered from subcorneal pustulosis prior to the onset of idiopathic hypo-parathyroidism. Two cases were misdiagnosed as epilepsy and admitted to the department of neurology. Generalized exfoliative dermatitis was induced in one case by large doses of antiepileptic agents to control the convulsive seizures.Biochemically, both CPK and LDH were elevated in one case. Serum calcium was as low as 2.4 mg/dl in one case, and serum phosphrus was as high as 11.7 mg/d1 in another. These phenomena were rarely encounted in IHP.Therapeutically, transplantation of homogenous parathyroid gland with blood vessels was the method of choice. Two cases were treated in this way with good results. A third case received a dog's parathyroid gland, which also showed good results. The mechanism of heterogenous parathyroid transplantation needs further investigation.In addition, the diagnosis and differential diagnosis of IHP were discussed.