Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder (1). We herein demonstrate the brain computed tomography (CT) findings of a 31-year-old woman with HDR syndrome caused by a GATA3 heterozygous mutation (2). Her 1-year-old son had renal cystic dysplasia. Brain CT revealed bilateral and symmetrical calcifications in the basal ganglia, ...

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...

To cite: Govindarajan A. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-201523 DESCRIPTION A 30-year-old man presented with gradually progressive spasticity of all limbs and dementia for 1 month. A CT scan showed extensive symmetric calcifications involving subcortical white matter of the cerebrum and cerebellum (figure 1), bilateral basal ganglia, thalamus...

Aicardi-Goutières syndrome (AGS) is a progressive encephalopathy with onset in the first year of life and a recessive autosomal pattern of inheritance. The syndrome is characterised by acquired microcephaly, basal ganglia calcifications, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis and raised interferon-alpha (INF-alpha) in the CSF. AGS is diagnosed on the basis o...

Background: Thyroid and parathyroid hormones are essential components of the metabolic system its regulation. Concurrent hyperthyroidism with hypoparathyroidism is an extremely rare finding not considered a common etiology brain calcifications seen on imaging. Brain can cause range neurologic symptoms, including movement disorders, cognitive impairment, seizures. Prompt recogni...

A B S T R A C T Introduction:We investigated differential role of cortical and subcortical regions in verbal and non-verbal sound processing in ten patients who were native speakers of Persian with unilateral cortical and/or unilateral and bilateral subcortical lesions and 40 normal speakers as control subjects. Methods: The verbal tasks included monosyllabic, disyllabic dichotic and diotic tas...

a b s t r a c t introduction:we investigated differential role of cortical and subcortical regions in verbal and non-verbal sound processing in ten patients who were native speakers of persian with unilateral cortical and/or unilateral and bilateral subcortical lesions and 40 normal speakers as control subjects. methods: the verbal tasks included monosyllabic, disyllabic dichotic and diotic tas...

In this study, we focused on the gait of Parkinson’s disease (PD) and presented a gray box model for it. We tried to present a model for basal ganglia structure in order to generate stride time interval signal in model output for healthy and PD states. Because of feedback role of dopamine neurotransmitter in basal ganglia, this part is modelled by “Elman Network”, which is a neural network stru...