[GM1 gangliosidosis--case report].

INTRODUCTION: Gangliosidoses occur due to inherited deficiency of human beta-galaktosidase, resulting in the accumulation of glicophyngolipides within the lisosomes. Clinical manifestations of lysosomal storage disorders are remarkably heterogeneous, they can apear at any age and each of them can vary from mild to severe conditions. CASE REPORT: We present a patient with an early, infintile type of GM, gangliosidosis. The facial features were coarse: hypertelorismus, wide nose, depressed nasal bridge with lingual protrusion. From the very first months of life she had severe generalized hypotonic, delayed development and hapatosplenomegaly. Before she died, when she was 13 months old, she had not had any spontaneus movements, she was deaf and blind, dispnoic, with apnoiccrises, with anemic face, but without seizures and decerebrate rigidity, which often accompanies the terminal stage of this illness. CONCLUSION: The absence of beta-galaktosidase enzyme activity at the skin fibroblasts confirmed the definitive diagnosis. There has been no successful treatment so far, but increasingly better results of the gene therapy for other lysosomal storage disorders can make us optimistic.

[Correlation between neurological finding and gestational maturity of newborns determined by neurosonography].

INTRODUCTION: Maturity is a complex functional condition influenced especially by the development of the vital functions of a fetus, primarily by the degree of the development of its central nervous system. The aim of this investigation was to establish the gestational maturity of the nervous system by neurosonography and neurological status. MATERIAL AND METHODS: The parameter of the neurological maturity, compared in this research are a neurological status and the degree of girification established by the ultrasound. RESULTS: All the coefficients of correlation between the gestation age determined by the ultrasound and the establishing of the gestation based on the neurological findings show a statistically significant correlation for p < 0.01. Of particular parametres of the neurological evaluation , the most appropriate ones appeared to be reflexes (the reflex of crossed extension, Moro reflex and the reflex of the main points), then volar flexion of a hand and the poplietal corner as the indicator of the passive tonus, whereas within the area of the evaluation of the active tonus, the motility was the most valid for establishing the maturity of a neonatal. The lowest coefficients of the correlations were in the automatic walk and the active tonus of the neck flexor, which are the ones of the most common neurological indicators of hypoxic ischemic encephalopathy of a neonatal. CONCLUSIONS: Bearing in mind that the premature babies are a risky group for existence of perinatal brain damages, we believe the neurosonographic establishing of the gestation age to be a precise and comfortable indicator of the maturity of the nervous system.

Monitoring of neurological parameters in newborns with hypoxic-ischemic encephalopathy.

Asphyxia i a condition caused by lack of oxygen in tissues and organs. The basic pathogenic mechanisms of asphyxia are: 1)hypoxemia, 2) ischemia. The effects of perinatal asphyxia on the brain of a neonatal baby are critical in development of hypoxic-ischemic encephalopathy. The diagnosis of hypoxic-ischemic encephalopathy is based on clinical data including course of pregnancy and delivery (Apgar score) and especially on the neurological status of the newborn (consciousness, tonus, convulsions, reflexes, vegetative functions, etc.) and it can be confirmed by biochemical analysis and neurological examinations. The aim of this paper is to determine the importance of prenatal and perinatal risk factors for hypoxic-ischemic encephalopathy, as well as their effects on the development of neurological complications and further neurological problems. The research included 148 newborn infants born in the period from January 1, 1996 to January 1, 1999, with gestational age of 27 to 42 weeks, with hypoxic ischemic lesions of the central nervosus system. The control group included 58 children of the same age and the same gestation, with generalized hypotonia ("floppy infant") but without any signs of hypoxic ischemic lesions of the central nervous system. In the group of examined newborn infants with hypoxic ischemic lesions, from 149 children 1 (0.67%) died, 87 (53.89%) had normal findings, whereas the handicap was established in 61 (40.94%). Perinatal asphyxia affects the fetus and newborn infants not by individual factors, but with at least three or four associated factors. The disorders caused by asphyxia are in inverse proportion to the duration and intensity of hypoxic insults and the gestational age of the newborn.