Koohmanaee S, Hoseini Nouri S A, Aminzadeh V, Tabrizi M, Bayat R, Kharaee F, et al . An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation. Caspian J Neurol Sci 2023; 9 (1) :50-55
URL:
http://cjns.gums.ac.ir/article-1-589-en.html
Shahin Koohmanaee * 1,
Seyyedeh Azadeh Hoseini Nouri1 ,
Vahid Aminzadeh1 ,
Manijeh Tabrizi1 ,
Reza Bayat1 ,
Fatemeh Kharaee1 ,
Maryam Shahrokhi2 ,
Afagh Hassanzadeh Rad1 ,
Saber Najafi Chakoosari3 ,
Setila Dalili1 ,
Ehsan Kazemnejad Leili1
1- Pediatric Diseases Research Center, Guilan University of Medical Sciences, Rasht, Iran
2- Department of Clinical Pharmacy, Faculty of Pharmacy, Guilan University of Medical Sciences, Rasht, Iran
3- Student Research Committee, Faculty of Medicine, Guilan University of Medical Sciences, Rasht, Iran
Abstract: (648 Views)
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14). 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 CLN6 mutation without retina involvement.
Case Presentation: We reported a 10-year-old boy with mixed types of seizures, developmental delay, cognitive problems, unsteady gait, and speech disorders. Although after a thorough assessment, CLN6 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.
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• Neuronal ceroid lipofuscinoses (NCL) is a rare genetic disorder characterized by the accumulation of autofluorescent
lysosomal lipopigments.
• Decreased vision due to retinal pigmentation or blindness are common symptoms of more types of NCL, especially
in NCL6.
• This report is an unusual presentation of NCL with CLN6 mutation without retina involvement.
Type of Study:
case report |
Subject:
Special Received: 2022/12/17 | Accepted: 2023/01/11 | Published: 2023/01/11