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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Physiological intracranial calcification occurs in about 0,3-1,5% of cases. It is asymptomatic and is detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases and other. Hypoparathyroidism and pseudohypoparathyroidism are the most common causes of pathological basal ganglia calcification. Besides tetany and seizures this condition is presented by parkinsonism and dementia. Such parkinsonism doesn't respond to drugs containing levodopha. Infections (toxoplasmosis, rubella, cytomegalovirus, cysticercosis, AIDS) give multiple and asymmetric intracranial calcification. Inherited and neurodegenerative diseases cause symmetrical, bilateral basal ganglia calcification which is not related to metabolic disorders (blood calcium level and other), those are: Cockayne syndrome, tuberous sclerosis, Fahr's syndrome, Down syndrome and other. We observed some cases of basal ganglia calcification and studied clinical manifestations and treatment tolerance of this pathological condition. Since adequate treatment of hypoparathyroidism may lead to marked clinical improvement, serum concentration of calcium, phosphorus, and parathyreoid hormone is suggested to be determined in all individuals with calcification of the basal ganglia to rule out hypoparathyroidism. Basal ganglia calcification in young patient with acute hepatitis may be result of Wilson disease.
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PMID:[Basal ganglia calcification: clinical manifestations and diagnostic evaluation]. 1717 86

The diagnosis of hypoparathyroidism with neurological findings occurring years after thyroid surgery is considered to be rare. The authors describe 3 cases of hypoparathyroidism associated to brain calcifications diagnosed many years after partial thyroidectomy. Two patients were admitted to Emergency Services presenting with seizures, without a previous diagnosis of hypoparathyroidism. The diagnosis was suspected adding the biochemical analysis to the scar on the neck. The CT, which was performed more than 20 years after surgery, showed large cerebral calcifications in both cases. The third patient did not have neurological symptoms, but presented basal and cerebellar calcifications that were demonstrated in the CT. All patients were treated with calcium and vitamin D with great improvement of clinical status. Adding to a case published previously, we count 4 cases from the same region. Thyroidectomies were very common in this region poor in dietary iodide. Since the clinical follow up was inadequate, we suspect that undetected cases similar to these may exist in the present moment.
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PMID:[Cerebral calcifications due to hypoparathyroidism: considerations about cases diagnosed many years after partial thyroidectomy]. 1722 Nov 23

Hypoparathyroidism-retardation-dysmorphism (HRD; Sanjad-Sakati Syndrome; Online Mendelian Inheritance in Man [OMIM] #241410) is a rare recessive syndrome predominantly seen on the Arabian Peninsula and characterized by congenital hypoparathyroidism, intrauterine growth retardation, mental retardation, seizures, and a typical facial dysmorphism (prominent forehead, deep-set eyes, and abnormal external ears).(1,2) To date, the same homozygous deletion in TBCE (155-166del) has been reported in all Saudi Arabian patients with HRD(1) as well as in all Saudi Arabian patients with Kenny-Caffey syndrome (OMIM #244460),(1) a syndrome with a phenotype that resembles that of HRD but is characterized by the presence of normal intelligence, late closure of the anterior fontanelle, macrocephaly, and postnatal (rather than prenatal) growth retardation.(1,3) Nanophthalmos and corneal opacity have been documented in Kenny-Caffey syndrome patients,(4) but ocular disease has not been well-described in HRD. We describe the ocular features of four Saudi Arabian HRD children referred to our institution for ocular complaints noted by their parents.
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PMID:Ophthalmic features of hypoparathyroidism-retardation-dysmorphism. 1725 73

Herein we describe the case of a 64-year-old woman with hypoparathyroidism diagnosed at the age of 40, after an acute episode of tetany and seizures due to severe hypocalcemia. She was treated for more than 20 years with calcitriol and calcium supplementation but she presented with marked hypercalciuria and recently nephrolithiasis, although serum calcium was maintained at levels below normal range. Provided that any attempt to increase the recommended dose of calcitriol was leading to an exacerbation of hypercalciuria, we decided to enroll an alternative tool in the treatment strategy. In order to avoid further deterioration of renal function she was administered once-daily a subcutaneous (sc) injection of synthetic human parathyroid hormone (PTH 1-34) while doses of calcium and calcitriol were gradually decreased depending on the response of calcium metabolism in serum and urine samples taken periodically. Within two months of administration, PTH (1-34) significantly reduced the level of urine calcium excretion compared with calcitriol therapy and maintained serum calcium in the normal range. The relevant literature is reviewed in light of this alternative therapeutic approach in long-standing hypoparathyroidism, illustrating the potential benefits and the unresolved issues in parathyroid hormone replacement.
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PMID:Sporadic hypoparathyroidism treated with teriparatide: a case report and literature review. 1728 36

We describe two siblings with neonatal hypocalcemic seizures whose mother took topiramate during both pregnancies. Apart from hypocalcemia, the patients had no identifiable etiology for their seizures. Although biochemical data suggested that the hypocalcemia was caused by hypoparathyroidism, no disorders typically associated with this condition were identified in the patients. We propose that topiramate exposure in utero led to hypoparathyroidism and subsequent hypocalcemia via effects on protein kinase A signaling, resulting in hypocalcemic seizures. Neonates exposed to topiramate in utero should be monitored for hypocalcemic seizures.
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PMID:Neonatal hypocalcemic seizures in siblings exposed to topiramate in utero. 1743 16

Hypoparathyroidism is one of the recognized causes of late-onset neonatal hypocalcemia. Maternal hypercalcemic hyperparathyroidism has been shown to suppress fetal parathyroid glands, causing transient neonatal hypoparathyroidism. We report two siblings (6 years apart) with transient hypoparathyroidism presented with hypocalcemic seizures during the first 2 weeks of life. Subsequent investigation revealed an unrecognized normocalcemic hyperparathyroidism with nephrocalcinosis in the mother. Maternal hyperparathyroidism was caused by two parathyroid adenomas. In conclusion, our report highlights the importance of careful evaluation of neonatal hypoparathyroidism in uncovering an unrecognized, asymptomatic hyperparathyroidism in the mother.
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PMID:Transient neonatal hypoparathyroidism in two siblings unmasking maternal normocalcemic hyperparathyroidism. 1756 90

A three-month-old male infant, previously diagnosed with seizures with a focal origin induced by hypocalcaemia secondary to hypoparathyroidism, presented for right cataract surgery. The hypocalcaemia and seizure activity had resolved with medical therapy, with normal calcium levels and no seizures for a month. Anaesthesia with halothane and isoflurane for left cataract surgery two days previously had been uneventful. During induction of anaesthesia with sevoflurane for the right cataract surgery, the patient had a focal seizure similar to those previously occurring when the patient was hypocalcaemic. The patient had normal calcium levels at the time of surgery. It appears likely that sevoflurane had triggered seizure activity in the apparently controlled focus. The potential for sevoflurane to induce epileptogenic activity in patients with reduced seizure threshold is discussed.
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PMID:Recurrence of focal seizure activity in an infant during induction of anaesthesia with sevoflurane. 1793 71

A 13-year-old boy with thalassemia major presented with generalized seizures. He was non-chelated and had hypoparathyroidism with extensive intracranial calcification, an association that is rarely reported.
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PMID:Intracranial calcification in beta-thalassemia major. 1805 85

Hypocalcemia due to hypoparathyroidism (HPT) is a late complication of iron-overloaded patients with b-thalassaemia major (TM). The majority of patients have mild disease with parasthesias, while in the more severe form tetany, seizures or cardiac failure may occur. In the last 20 years we observed heart failure in 2 out of 38 (5.2%) TM patients (aged 18 and 22 years) with hypocalcemia secondary to HPT associated to iron overload. Calcium supplementation and vitamin D induced correction of hypocalcemia and resulted in an improvement of cardiac function. Calcium plays a key role in the maintenance and regulation of normal cardiac function. Extra-cellular calcium is indispensable for the contractile process since the sarcoplasmatic reticulum is unable to maintain a sufficient amount of calcium to trigger myocardial contraction. In conclusion, our observations stress the importance of a regular iron chelation therapy, adherence to treatment of endocrine complication and regular follow-up of TM patients with hypocalcemia.
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PMID:A rare cause of heart failure in iron-overload thalassaemic patients-primary hypoparathyroidism. 1840 23

A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome: We report a prenatally sonographically diagnosed conotruncal and urogenital anomaly. Postnatally, the patient presented with seizures, hypocalcemia, hypoparathyroidism and thymic aplasia and diagnosed as DiGeorge syndrome. Echocardiography showed malalignment VSD, supravalvular pulmonary stenosis and overriding aorta. Chromosome and FISH studies showed the association of mosaic type trisomy 21 and 22q11.2 microdeletion. The present patient is the second case of mosaic type of Down syndrome associated with 22q11.2 microdeletion. In addition the patient also had clinical and laboratory features of DiGeorge syndrome.
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PMID:A prenatally sonographically diagnosed conotruncal anomaly with mosaic type trisomy 21 and 22q11.2 microdeletion/DiGeorge syndrome. 2016 73


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