Encefalopatía crónica no progresiva secundaria a enfermedad vascular cerebral hemorrágica por deshidratación hipernatrémica: a propósito de un caso / Non progressive chronic encephalopathy secondary to cerebral vascular hemorrhage due to hipernatremic dehydration: a purpose of a case

El estudio en los últimos años de las enfermedades vasculares cerebrales en la infancia ha permitido el reconocimiento de los factores de riesgo para este grupo etario. La hiperosmolaridad (policitemia, trombocitosis, hiperglicemia, hipernatremia), que a nivel del sistema nervioso central provoca trombosis de vasos arteriales y venosos con ruptura de los mismos y sangramientos intracerebrales, subdurales, subaracnoides, puede ser causa de fenómenos isquémicos y/o hemorrágicos cerebrales, conllevando a largo plazo a lesiones estructurales. El presente trabajo se basa en la descripción clínica y procedimientos diagnósticos de un niño con encefalopatía crónica no progresiva, secundaria a enfermedad vascular cerebral hemorrágica por deshidratación hipernatrémica, tomando los datos de la historia clínica y la evaluación directa del mismo. El paciente se evaluó en Barquisimeto, estado Lara en el año 2007.

Studies in the last years on cerebral vascular illnesses in childhood has allowed the recognition of risk factors for this age group. Increase in osmolarity (increase in the viscosity of the blood, polycitemia thrombocitocys, hyperglycemia, hypernatrenia) can cause ischemic phenomena and/or cerebral hemorrhage, causing long term structural lesions. The present work is based on the clinical description and aboy's diagnostic procedures with chronic non progressive encephalopaty secondary to cerebral vascular hemorrhagic illness due to hypernatrenic dehydration. The patient was evaluated in the city of Barquisimeto, Lara state in the year 2007.

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7 percent): 17 (70.8 percent) had classical RS; 5 (20.8 percent), atypical RS and 2 (8.4 percent), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding

Cortical, brainstem and autonomic nervous system dysfunction in infants with post-hemorrhagic hydrocephalus

OBJECTIVE: The aim of this study was to evaluate the degree of central and autonomic dysfunction by means of electroencephalographic (EEG) and cardio-pneumographic recording (CPGR) in infants with Post-Hemorrhagic Hydrocephalus (PHH). METHODS: Nineteen infants with PHH were studied, born from October 1998 to January 2000. Clinical diagnosis was confirmed by cephalic perimeter measurement and ultrasonographic study. Eight channel bipolar EEG and CPGR were performed after sleep deprivation, EEG features studied were: Temporal organization, symmetry, synchrony, frequency of normal and abnormal patterns. CPGR features studied were: Frequency of apnea and temporal organization by means of beat to beat variability. RESULTS: Averages of birth's age and weight, Apgar scores at one and five minutes, and cephalic perimeter showed lower values in PHH infants. PHH infants showed abnormalities in EEG and CPGR such as: Higher discontinuous activity (63), asymmetry (73), asynchrony (89), abnormal EEG patterns (89), apnea (26) and absence of heart rate variability (63). CONCLUSIONS: EEG and CPGR recordings are a useful tools in the examination of infants with PHH. These findings suggest cortical-subcortical, and brainstem dysfunction with severe encephalopathy and autonomic nervous dysfunction related to ventricular dilatation in infants with PHH.