Ketogenic Diet in Patients with GLUT1 Deficiency Syndrome.

The ketogenic diet (KD) is a high fat, low carbohydrate diet considered to be the treatment of choice for GLUT1deficiency syndrome, a metabolic disorder affecting the nervous system. To present our experience in four patients with GLUT1 deficiency syndrome who were treated with KD. Retrospective data from case series.

Diagnostic approach of angelman syndrome.

Background: Angelman syndrome (AS) is a genetic condition, characterized by severe mental retardation, ataxic gait, severe speech delay, dysmorphic features, abnormal behaviour, movement disorder. It is caused by a variety of genetic mechanisms which all interfere with expression of the UBE3A gene on chromosome 15q11-13.

Objectives: To present our experience regarding diagnosis of children with Angelman syndrome.

Cohen syndrome - a rare genetic cause of hypotonia in children.

Cohen syndrome is a rare, genetic condition, recessively inherited, associated with specific facial dysmorphism, global developmental delay, hypotonia and ophthalmic abnormalities. A delay in making the diagnosis commonly occurs, because of the lack of a definitive molecular test and also because of the clinical variability of the syndrome. In this paper we describe four cases of Cohen syndrome, together with a comparison with other cases reported in the literature, in order to further delineate this condition.

Are absences truly generalized seizures or partial seizures originating from or predominantly involving the pre-motor areas? Some clinical and theoretical observations and their implications for seizure classification.

In both the current (1981) ILAE Classification of Epileptic Seizures and the recently Proposed Diagnostic Scheme for People with Epilepsy and Epileptic Seizures, typical absence seizures are defined as generalized seizures, implying widespread subcortical and cortical neuronal involvement from onset with impairment of consciousness as the clinical hallmark. Clinical observations from three patients and clinical and experimental data from the literature suggest, however, that: (1) consciousness is retained in many typical absences; (2) the true hallmark of these seizures is arrest of motor initiation due to disturbance of pre-motor area frontal-lobe function; (3) typical absences and partial seizures from these areas may show similar clinical and EEG features and involve the same neuronal circuits. The neuronal system primarily involved in these seizures consists of a relatively limited cortico-thalamo-cortical circuit, including the reticular thalamic nucleus, the thalamocortical relay and the predominantly anterior and mesial frontal cerebral cortex, with the cortex probably acting as the primary driving site.

Modest familial aggregation of eating disorders in restrictive anorexia nervosa with adolescent onset in a Romanian sample.

The study of the familial psychopathology in relatives of restrictive anorexia nervosa (AN) probands whose diagnosis was verified during a long-term follow-up was aimed at determining behavioural phenotypes with which AN could share the genetic liability. A total of 185 first degree relatives of 68 restrictive AN patients with adolescent onset followed up for 5 to 18 years and 198 first degree relatives of 68 normal women were investigated. DSM-III-R criteria were used.