Pseudohypoparathyroidism and hypocalcemic “myopathy”

Piechowiak, H; Gröbner, Wolfgang; Kremer, H; Pongratz, D.; Schaub, J.

doi:10.1007/bf01721214

Cited by 18 publications

(8 citation statements)

References 15 publications

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“…If this is the case, then the CK increase would not be secondary to tetany alone, and hypocalcemic myopathy would represent a distinct pathological entity 4 . The histological findings in our case are in agreement with the literature descriptions of mild alterations and no structural or inflammatory lesions at biopsy, indicating a mild, non-specific myopathy which supports the hypothesis of a functional change in striated muscle 4,11,13,14 . The very low serum levels of PTH, hypocalcemia and hyperphosphatemia seen in the patient are the characteristic findings of IHP.…”

Section: Discussionsupporting

confidence: 92%

“…In this cases, however, CK tends do be normal 7 , whereas in our case it was strikingly elevated. Since the first description by Wolf et al , there have been very few cases of hypocalcemic myopathy with an increased CK, and almost all of them were due to IHP 1,2,[8][9][10] , but this finding can also be observed in pseudohypoparathyroidism 11 .…”

Section: Discussionmentioning

confidence: 99%

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Hypocalcemic myopathy without tetany due to idiopathic hypoparathyroidism: case report

Nora

Fricke

Becker

et al. 2004

Arq. Neuro-Psiquiatr.

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-Myopathy due to idiopathic hypoparathyroidism is very unusual. We report on a 30 years-old man referred with complaints of sporadic muscle pain and mild global weakness for 10 years. His physical examination showed normal strength in distal muscle and slightly weakness in the pelvic and scapular girdles with no atrophy. Deep muscle reflexes were slightly hypoactive. Trousseau's and Chvostek's signs were absent. He had bilateral cataract and complex partial seizures. His laboratory tests showed decreased ionised and total calcium and parathyroid hormone and increased muscle enzymes. EMG and muscle biopsy was compatible with metabolic myopathy. After treatment with calcium and vitamin D supplementation he showed clinical, neurophisiological and laboratorial improvement. In conclusion: patients with muscle symptoms, even when non-specific and with normal neurological examination, should have serum calcium checked, as myopathy due to idiopathic hypoparathyroidism, even being rare, is treatable and easy to diagnose.KEY WORDS: myopathy, hypocalcemia, hypoparathyroidism. Miopatia hipocalcêmica secundária a hipoparatireiodismo idiopático sem tetamia: relato de casoRESUMO -Miopatia secundária a hipoparatireidismo idiopático é enfermidade raramente descrita. Relatamos o caso de homem de 30 anos que procurou atendimento médico com queixas de dores musculares e discreta fraqueza há cerca de 10 anos. Ao exame físico apresentava leve diminuição de força na musculatura pélvica e escapular, sem atrofia, ou fraqueza distal. Os reflexos miotáticos fásicos eram hipoativos e não havia sinais de Trousseau ou Chevostek. Havia história de catarata bilateral e crises parciais complexas. Os exames laboratoriais demonstraram hipocalcemia, com diminuição do paratormônio, hiperfosfatemia e enzimas musculares elevadas. A EMG e a biópsia de músculo foram compatíveis com miopatia metabóli-ca. Após reposição de cálcio e vitamina D houve melhora clínica e neurofisiológica. Em conclusão: em pacientes com sintomas musculares, mesmo não específicos para miopatia ou com exame neurológico normal, devese dosar cálcio sérico, já que miopatia associada a hipoparatireoidismo é uma doença facilmente diagnosticada e tratável. PALAVRAS-CHAVE: miopatia, hipocalcemia, hipoparatireoidismo.Myopathy due to idiopathic hypoparathyroidism (IHP) is an extremely rare condition, with little more than 10 cases described in the literature, and its pathophysiology is not well established [1][2][3][4] . IHP is an infrequent disease of unknown aetiology, caused by insufficient secretion of parathyroid hormone (PTH). Its estimated prevalence in Japan is 7.2 cases per million individuals 5 . The reduced secretion of this hormone leads to hypocalcemia and hyperphosphatemia, due to the inhibition in calcium reabsorption in distal tubules and bone matrix, and also to the deficiency in the synthesis of 1,25-dihydroxyvitamin D. The clinical manifestations of IHP are multiple and affect mainly tissues of ectodermic origin. Among the most common findings in these patient...

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Hypocalcemic myopathy without tetany due to idiopathic hypoparathyroidism: case report

Nora

Fricke

Becker

et al. 2004

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Nevertheless, this notion is based on observations of a single case, and this patient. In this regard, it is noteworthy that peripheral neuropathy and metabolic myopathy have been reported in patients with primary hypoparathyroidism [8,9], whereas such symptoms have not been described in patients with PHP, except for mildly elevated blood CK and lactate dehydrogenase (LDH) levels in a single case of PHP-Ia [10]. Moreover, in vitro experiments showed that calcium concentration affects excitability at neuromuscular junctions [11].…”

Section: Resultsmentioning

confidence: 99%

“…However, such clinical features have been rarely described in patients with PHP-Ib [10]. Here, we report a Japanese patient with familial PHP-Ib due to an intragenic deletion of STX16, who presented with unique neuromuscular symptoms.…”

Section: Molecular Analysesmentioning

confidence: 85%

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification

et al. 2013

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“…Another unusual finding in our patient with hypocalcaemia was markedly increased level of serum muscle enzymes. This phenomenon has rarely been reported in patients with hypocalcaemia and myopathy due to hypoparathyroidism [5][6][7][8][9]. While myopathy in long lasting hypocalcaemia associated with osteomalaciais well described, it is not followed by an increase in serum CK levels [10].…”

Section: Discussionmentioning

confidence: 99%

Severe Hypocalcemia in the Postpartum Period: A Rare Case of Primary Hypoparathyroidism and Autoimmune Thyroid Disease

Veselinović¹,

Pavlović²,

Miljić³

et al. 2013

Thyroid Disorders Ther

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Pseudohypoparathyroidism and hypocalcemic “myopathy”

Cited by 18 publications

References 15 publications

Hypocalcemic myopathy without tetany due to idiopathic hypoparathyroidism: case report

Hypocalcemic myopathy without tetany due to idiopathic hypoparathyroidism: case report

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification

Severe Hypocalcemia in the Postpartum Period: A Rare Case of Primary Hypoparathyroidism and Autoimmune Thyroid Disease

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