Shahin Koohmanaee - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Seyyedeh Azadeh Hoseini Nouri - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Vahid Aminzadeh - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Manijeh Tabrizi - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Reza Bayat - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Fatemeh Kharaee - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Maryam Shahrokhi - Department of Clinical Pharmacy, Faculty of Pharmacy, Guilan University of Medical Sciences, Rasht, Iran
Afagh Hassanzadeh Rad - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Saber Najafi Chakoosari - Student Research Committee, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran
Setila Dalili - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
Ehsan Kazemnejad Leili - Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran

Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than ۵۳۰ mutations of at least ۱۳ different genes (CLN ۱-۱۴). NCL is a part of the lysosomal disease characterized by the presence of neuronal and extraneural autofluorescent lipopigment accumulations that leads to motor and mental deterioration, developmental regression, seizure, vision loss, and premature death. NCL is classified into four main groups based on the different clinical manifestations and age of presentation. In this study, we aimed to report an unusual presentation of NCL with CLN۶ mutation without retina involvement. Case Presentation: We reported a ۱۰-year-old boy with mixed types of seizures, developmental delay, cognitive problems, unsteady gait, and speech disorders. Although after a thorough assessment, CLN۶ mutation was diagnosed, he had all symptoms of this mutation, except the visual impairment. Conclusion: According to recent NCL case reports from Asia, full familiarity with its presentation by pediatricians and neurologists is obligatory. Children with developmental regression or refractory seizures, who also have visual or other neurological symptoms such as ataxia and other cerebellar symptoms, even at older ages, should be evaluated for NCL. Attention to ophthalmological examinations and neurological signs and confirming the diagnosis by biopsy or genetic analysis is desirable to prevent missed diagnosis.

Neuronal ceroid-lipofuscinoses, Phenotype, Mutation, Vision disorders