Case report of late infantile neuronal ceroid lipofuscinosis due to TPP1 gene mutation / 中华实用儿科临床杂志

ABSTRACT

A retrospective analysis was performed on the clinical data of a case of late infantile neuronal ceroid lipofuscinosis admitted in the Department of Neurology, Children′s Hospital Affiliated to Soochow University in 2017.The patient was a 4-year-old girl, who was hospitalized because of " 2 convulsions in 1 day" at 2 years and 10 months old.Since then, she had convulsions and progressive regression of motor, language and intelligence frequently.The clinical feature of the patient included unstable walking, drunkenness, easy falling, shaking hands with objects, hypophrasia, prostation, lack of eye language communication, inability to take care of herself, and intelligence quotient of 1-year-old child.Brain magnetic resonance imaging(MRI) showed cerebellar atrophy; the electroencephalogram suggested spike slow wave and multi-spike slow wave burst with high amplitude.Gene detection 2 heterozygous variants of TPP1 gene, namely c. 230-1G>C and c. 1027G>A(p.e343k), and they were " possibly pathogenic" . Patients with intractable epilepsy, ataxia, motor language retardation, and cerebellar atrophy on MRI should undergo gene detection should in time, so as to make clear diagnosis and guide prenatal diagnosis and genetic consultation as early as possible.