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[Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

January 2024

Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Henan Provincial Key Laboratory of Pediatric Epilepsy and Immunology, Clinical Diagnosis and Treatment Center of Pediatric Neurological Diseases, Zhengzhou, Henan 450052, China.

Objective: To analyze the clinical data and genetic characteristics of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferritinemia cataract syndrome (HHCS).

Methods: A child who was admitted to the PICU of the First Affiliated Hospital of Zhengzhou University in November 2020 was selected as the study subject. Clinical data of the child was collected.

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