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Kufor-Rakeb syndrome (KRS) is a rare autosomal recessive neurologic disease with diverse phenotypic features. Herein we report an Iranian KRS family with seizure and action myoclonus in addition to other typical manifestations of this A 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. A diagnosis of cerebrotendinous xanthomatosis (CTX) was made because of hypercholestanolemia. At the time of admission, cataract, a mild thickening
The effects of delta-sleep inducing peptide (DSIP) and its analogues (1-4) administered into substantia nigra pars reticulata on locomotor and seizure activity were estimated in experiments in rats. It was shown that intranigral microinjection of DSIP as well as DSIP-1-DSIP-4 caused decreasing of
Takotsubo cardiomyopathy (TC) is increasingly recognized in neurocritical care population especially in postmenopausal females. We are presenting a 61-year-old African American female with past medical history of epilepsy, bipolar disorder, and hypertension who presented with multiple episodes of
Dravet syndrome or severe myoclonic epilepsy in infancy (SMEI) is an epileptic syndrome characterised by refractory epilepsy and intellectual disability, typically presenting with febrile and afebrile generalised and unilateral clonic/tonic-clonic seizures in the first year of life and other types
The experiments were carried out on 1150 non-inbred white male rats weighing 200+/-50 g. The animals were housed in small cages for 1, 5, 10, 15, 30, 45 and 60 days. Control rats remained normally active. The experimental and control animals were given a typical diet. On the above days the rats were
BACKGROUND
The qualitative assessment of general movements (GMs) proved to be a highly sensitive and specific diagnostic tool for the assessment of the integrity of the young nervous system. It is essential that the quality of GMs remains consistent in an individual during a given recording at a
BACKGROUND
: Pregabalin (PGB) is an L-type, voltage-dependent, calcium-channel blocker, useful for the treatment of neuropathy pain and some forms of seizures. We report the case of a 64-year-old woman who developed full-blown parkinsonism after PGB administration.
METHODS
: A female patient who
OBJECTIVE
Analysing the clinical characteristics of seizures constitutes a fundamental aspect of the presurgical evaluation of patients with medial temporal lobe epilepsy and unilateral hippocampal sclerosis (MTLE-HS), the most frequent form of focal epilepsy accessible to surgery. We sought to
We report a 70-year-old man who was hospitalized after a left-sided partial seizure progressed to grand mal seizures. Three years before, the patient had presented with the main symptoms of bradykinesia and gait disturbance and was diagnosed with parkinsonism resistant to L-dopa. At the latest
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. Hallmarks of the syndrome are glomerular vasculopathy in the central nervous system, severe hydrocephaly,
The authors report the case of an 8 year-old boy who, when he was 2 1/2 years old, suffered from spasmodic mouth twitches. At the age of four, various other symptoms appeared: psychomotor backwardness, frequent fails and a photomyoclonic response on electroencephalogram. At the age of 5 1/2,
Juvenile Huntington's disease (JHD) is mostly characterized by rigidity, myoclonus, bradykinesia, dystonia and seizure. We report a 9-year-old male JHD patient presenting excessive blinking as the initial symptom two years prior to typical JHD symptoms. Genetic analysis revealed expansion of 108 CAG
OBJECTIVE
The aim of this study is to establish the safety and efficacy of bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) in Parkinson's disease (PD) patients with disabling motor fluctuations performed with an expedient procedure with limited intraoperative
Japanese encephalitis (JE) is a mosquito borne encephalitis caused by Flavivirus. Neurocysticercosis (NCC) is a parasitic disease of the central nervous system caused by Taenia solium. In this report, we describe the clinical profile, imaging findings, and outcome of two children with JE and