Assuntos
Hemorragia Cerebral Intraventricular/epidemiologia , Deficiências do Desenvolvimento/epidemiologia , Lactente Extremamente Prematuro/crescimento & desenvolvimento , Complicações Pós-Operatórias/epidemiologia , Estudos de Casos e Controles , Hemorragia Cerebral Intraventricular/cirurgia , Desenvolvimento Infantil , Feminino , Humanos , Recém-Nascido , MasculinoRESUMO
OBJECTIVE: The implementation of NTBC into treatment of hypertyrosinemia type I (HT I) greatly improved survival by prevention of acute liver failure and hepatocellular carcinoma. However, there are first reports of cognitive impairment in patients with elevated plasma tyrosine concentrations. METHODS: We here assess the neurocognitive development using standardized psychometric test batteries with respect to cognition, motor abilities and speech in nine early-treated patients with HT I under long-term NTBC treatment. RESULTS: High plasma tyrosine concentrations were frequently documented resulting in elevated 12-month median plasma tyrosine concentrations in seven out of nine patients. Plasma NTBC concentrations were generally in the lower therapeutic range. Five out of seven patients (71%) above 3 years of age had a total IQ score below the average. In addition, five out of seven patients above 3 years showed an inhomogenous test profile with significant differences between the different testing scales. Motor abilities were subnormal in four out of seven patients(57%). Cerebral MRI revealed no abnormalities. Logopedic evaluation in children at school age documented dysfunction or retardation in language development in all but one of the tested patients (80%), however, all but one patients had a migration background. CONCLUSIONS: A high number of patients performed below normal in the assessment of development, motor function and speech. We propose intellectual impairment as long-term complication in HT type I with elevated plasma tyrosine under NTBC treatment as observed in other hypertyrosinemias. These findings remain to be reproduced in greater patient numbers.
Assuntos
Transtornos Cognitivos/etiologia , Cognição/efeitos dos fármacos , Cicloexanonas/efeitos adversos , Cicloexanonas/uso terapêutico , Nitrobenzoatos/efeitos adversos , Nitrobenzoatos/uso terapêutico , Tirosinemias/tratamento farmacológico , Tirosinemias/psicologia , Cérebro/efeitos dos fármacos , Criança , Pré-Escolar , Transtornos Cognitivos/sangue , Transtornos Cognitivos/induzido quimicamente , Transtornos Cognitivos/metabolismo , Inibidores Enzimáticos/efeitos adversos , Inibidores Enzimáticos/uso terapêutico , Feminino , Humanos , Lactente , Desenvolvimento da Linguagem , Assistência de Longa Duração/métodos , Masculino , Atividade Motora/efeitos dos fármacos , Psicometria/métodos , Tempo , Resultado do Tratamento , Tirosina/sangue , Tirosinemias/sangueRESUMO
The clinical manifestations of cerebral malformations are complex and vary from mild retardation to massive disabilities. A review of the literature suggests that the developmental outcome in these patients depends on the extension, location, and combination of such anomalies. However, the authors present the encouraging clinical course of a girl with a complex cerebral malformation. Despite the severe imaging findings, at the present age of 34 months, the patient developed only a mild psychomotor retardation. This case illustrates that the morphological classification of cerebral malformations does not allow one to predict with certainty whether a child will develop impaired motor and/or higher cognitive functions.