Calcinose striatopallidodentelée, hypoparathyroïdie et atteinte neurologique : étude de série

Otmani, Hicham El; Lahlou, I.; Raji, Lukman Oladimeji; Omari, S.; Belmansour, Y.; Moutaouakil, F.; Boulaajaj, F.Z.; Mouden, Mohamed; Gam, Ines; Hakim, K.; Moutawakil, Bouchra El; Rafai, M.A.; Fadel, H.

doi:10.1016/j.neurol.2012.11.005

Cited by 5 publications

(4 citation statements)

References 28 publications

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“…Delirium and cognitive decline are manifestations of HP and PHP, being usually associated and maybe pathophysiologically related to the presence of intracranial calcification (Adorni et al 2005; Baptista et al 1997; El Otmani et al 2013; Kowdley et al 1999; Nicolai & Lazzarino 1994; Roca et al 1995). Hypocalcemia seems to be a key factor for calcifications as well as for common neurological symptoms like tetany, muscle cramping and seizures, which usually respond quickly to calcium replacement (Friedman et al 1987; Fujita 2004).…”

Section: Discussionmentioning

confidence: 99%

“…A review of the literature revealed that stable and severe cognitive deficits and dementia have been essentially associated to chronic HP and PHP and widespread intracranial calcifications (Baptista et al 1997; Cartier et al 2002; El Otmani et al 2013; Modrego et al 2005). Dementia appears late in the course of the disease in most cases, and it is characterized as a subcortical dementia, probably secondary to mineral deposits in subcortical structures, leading to disruption of frontostriatal circuits and dysfunction of inter‐hemispheric relations (Cartier et al 2002).…”

Section: Discussionmentioning

confidence: 99%

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Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation

Guerreiro

Brás

Batista

et al. 2016

Genes Brain and Behavior

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Pseudohypoparathyroidism type 1b (PHP1b) is characterized by hypocalcemia, hyperphosphatemia, increased levels of circulating parathyroid hormone (PTH), and no skeletal or developmental abnormalities. The goal of this study was to perform a full characterization of a familial case of PHP1b with neurological involvement and to identify the genetic cause of disease. The initial laboratory profile of the proband showed severe hypocalcemia, hyperphosphatemia and normal levels of PTH, which was considered to be compatible with primary hypoparathyroidism. With disease progression the patient developed cognitive disturbance, PTH levels were found to be slightly elevated and a picture of PTH resistance syndrome seemed more probable. The diagnosis of PHP1b was established after the study of family members and blunted urinary cAMP results were obtained in a PTH stimulation test. Integration of whole genome genotyping and exome sequencing data supported this diagnosis by revealing a novel homozygous missense mutation in PTH1R (p.Arg186His) completely segregating with the disease. Here, we demonstrate segregation of a novel mutation in PTH1R with a phenotype of PHP1b presenting with neurological symptoms, but no bone defects. This case represents the extreme end of the spectrum of cognitive impairment in PTH dysfunction and defines a possible novel form of PHP1b resulting from the impaired interaction between PTH and PTH1R.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation

Guerreiro

Brás

Batista

et al. 2016

Genes Brain and Behavior

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“…The roles of hypocalcemia and intracerebral calcifications in the occurrence of epilepsy in hypoparathyroidism are not entirely clear. El Otmani et al [ 16 ] analyzed retrospectively the neurological and clinical findings of 12 cases with secondary brain calcifications (9 of them were hypoparathyroidism and 3 of them were pseudohypoparathyroidism) during a follow-up period of 13 years. In this report, all patients had a tetany, 60% had epilepsy, 50% had behavioral changes, and response to calcium therapy was excellent for all these events [ 16 ].…”

Section: Discussionmentioning

confidence: 99%

“…El Otmani et al [ 16 ] analyzed retrospectively the neurological and clinical findings of 12 cases with secondary brain calcifications (9 of them were hypoparathyroidism and 3 of them were pseudohypoparathyroidism) during a follow-up period of 13 years. In this report, all patients had a tetany, 60% had epilepsy, 50% had behavioral changes, and response to calcium therapy was excellent for all these events [ 16 ]. Although the present patient had a history of head trauma and continuing convulsive attacks until the last eight months despite antiepileptic treatment, the presence of hypocalcemic symptoms like tetany and agitation may support the idea that the epileptic attacks were related to primary hypoparathyroidism and brain calcifications.…”

Section: Discussionmentioning

confidence: 99%

A Case of Primary Hypoparathyroidism Presenting with Acute Kidney Injury Secondary to Rhabdomyolysis

Şumnu

Aydın

Gürsu

et al. 2016

Case Reports in Nephrology

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Hypoparathyroidism is the most common cause of symmetric calcification of the basal ganglia. Herein, a case of primary hypoparathyroidism with severe tetany, rhabdomyolysis, and acute kidney injury is presented. A 26-year-old male was admitted to the emergency clinic with leg pain and cramps, nausea, vomiting, and decreased amount of urine. He had been treated for epilepsy for the last 10 years. He was admitted to the emergency department for leg pain, cramping in the hands and legs, and agitation multiple times within the last six months. He was prescribed antidepressant and antipsychotic medications. He had a blood pressure of 150/90 mmHg, diffuse abdominal tenderness, and abdominal muscle rigidity on physical examination. Pathological laboratory findings were as follows: creatinine, 7.5 mg/dL, calcium, 3.7 mg/dL, alanine transaminase, 4349 U/L, aspartate transaminase, 5237 U/L, creatine phosphokinase, 262.000 U/L, and parathyroid hormone, 0 pg/mL. There were bilateral symmetrical calcifications in basal ganglia and the cerebellum on computerized tomography. He was diagnosed as primary hypoparathyroidism and acute kidney injury secondary to severe rhabdomyolysis. Brain calcifications, although rare, should be considered in dealing with patients with neurological symptoms, symmetrical cranial calcifications, and calcium metabolism abnormalities.

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A Rare Cause of a Treatable Abnormal Movement, Not to Miss

Pitakpatapee

Srikajon

Sangpeamsook

et al. 2022

Movement Disord Clin Pract

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Parkinsonism is a syndrome composed of tremor at rest, bradykinesia, rigidity, loss of postural reflexes, flexed posture, and freezing. 1 There are various acquired etiologies causing parkinsonism, such as dopaminergic blocking agents, cerebrovascular diseases, brain neoplasm, the intoxication of various toxins, brain trauma, and metabolic disturbances.Abnormal calcium metabolism causing hypo-or hypercalcemia can lead to adverse effects of the human nervous system. Although neurological manifestations of hypercalcemia mainly present as an alteration of consciousness or depression, the manifestations of hypocalcemia range from muscle twitching, spasms, tetanic contraction, numbness, altered mental status, encephalopathy, and seizures. 2,3 Movement disorders, such as chorea and parkinsonism, are unusual complications of hypocalcemia. Herein, we report a case of hypocalcemia attributed to postthyroidectomy hypoparathyroidism that presented with acute parkinsonism and psychomotor retardation. Those symptoms were dramatically improved after correcting hypocalcemia.

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Calcinose striatopallidodentelée, hypoparathyroïdie et atteinte neurologique : étude de série

Cited by 5 publications

References 28 publications

Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation

Pseudohypoparathyroidism type I‐b with neurological involvement is associated with a homozygous PTH1R mutation

A Case of Primary Hypoparathyroidism Presenting with Acute Kidney Injury Secondary to Rhabdomyolysis

A Rare Cause of a Treatable Abnormal Movement, Not to Miss

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