BACKGROUND Hypoparathyroidism refers to a group of disorders in which extracellular calcium levels cannot be maintained within the normal range due to relative or absolute deficiency of parathyroid hormone (PTH). The clinical features of hypoparathyroidism are consistent with hypocalcaemia and, predominantly, neuromuscular dysfunction. Although hypocalcaemia-induced seizures are well documented...

introduction: huntington disease (hd) is a progressive neurodegenerative disease which affects movement control system of the brain. hd symptoms lead to patient’s gait change and influence stride time intervals. in this study, we present a grey box mathematical model to simulate hddisorders. this model contains main physiological findings about bg. methods: we used artificial neural networks (a...

Abstract Context Hypoparathyroidism is characterized by low serum calcium, increased phosphorus, and inappropriately or decreased parathyroid hormone, which may be associated with soft tissue calcification in the basal ganglia of brain. Objective To assess prevalence factors involved pathophysiology (BGC) brain chronic hypoparathyroidism to evaluate proposed pathophysiologic mechanisms. Design ...

This is a case of a 69-year-old male patient with long-standing iatrogenic hypoparathyroidism after total thyroidectomy. The clinical evaluation revealed mild neurological symptoms and excessive brain calcinosis. Intracranial calcification that affects structures other than the basal ganglia and the cerebellum is a rare manifestation of postoperative hypoparathyroidism. Detection of brain calci...

Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcifica...

Wang et al. (2012) recently identified seven novel mutations at the SLC20A2 gene in families from China, Spain and Brazil, suggesting that Familial Idiopathic Basal Ganglia Calcification (IBGC) might be a phosphate imbalance disorder. Expressing wild-type human SLC20A2 and the mutated variants, using transport assays in Xenopus oocytes, resulted in significant impaired Pi transport. On the othe...

Five young infants with congenital rubella syndrome (CRS) underwent cranial ultrasonographic examinations and/or computed tomographic examinations. Only two of these infants were small for their gestational age, and none of them were microcephalic at birth. Deafness and ocular lesions were found in four patients, and congenital heart disease was found in three. All had abnormal ultrasonographic...

Down syndrome, the most common chromosomal abnormality, may be associated with various neurologic complications such as moyamoya syndrome, cervical spinal cord compression due to atlantoaxial subluxation, and basal ganglia damage, as well as epileptic seizures and stroke. Many cases of Down syndrome accompanied by isolated neurologic manifestations have been reported in children; however, Down ...