Resumo

SOMOANO SUAREZ, Rosario María; RAMIREZ BENITEZ, Yaser; DIAZ BRINGA, Miriela  e  FALCON RODRIGUEZ, Dairy. Atypical hystidinemia and the cognitive development. Rev Cubana Endocrinol [online]. 2012, vol.23, n.2, pp. 157-165. ISSN 1561-2953.

Introduction: histidinemia is a metabolic defect within the group of aminoacidemias. The enzymatic defect of histidase (histidin-amono-lyase) cause high histidine concentration in the blood, the cerebrospinal fluid, in urine, and sweat. Methods: a case study showed the developmental evolution of a child with atypical histidinemia and the impact of rehabilitation from early age to school age. Results: the pathological condition caused by atypical histidinemia limits the motor, neurological, neuropsychological, behavioural and educational development of the child. The early rehabilitation shows that primary gait abilities are acquired in the expected phase, but the complex motor problems remained in the development phase. The language difficulties persist throughout the early childhood, but rehabilitation makes it possible to improve oral expression as age increases. Conclusions: atypical histidinemia reveals neurological, neuropsychological, neurophysiological, behavioural and academic alterations in the development of the child. The early rehabilitation provides better living conditions to the child. The chronic nature of the disease indicates a negative prognosis in essential areas such as behaviour and education.

Palavras-chave : atypical histidinemia; cognition; neurodevelopment; rehabilitation.

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