Paediatric rheumatologist and orphan disease – a story without happy ending Reumatolog dziecięcy i choroba rzadka – historia bez happy endu
Data nadesłania: 21-06-2016
Data ostatniej rewizji: 28-06-2016
Data akceptacji: 29-06-2016
Data publikacji online: 18-07-2016
Data publikacji: 30-06-2016
Reumatologia 2016;54(3):141-145
Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent neurodegenerative disease observed in the paediatric population. We report a case of 2-year-old girl diagnosed with oligoarticular form of juvenile idiopathic arthritis treated in our Department with steroids and methotrexate and staying in the stage of disease remission. During routine checkups at Outpatient Clinic we observed progressive deterioration of girls neurological condition resulting in ataxia, gait disturbances with no rheumatological cause behind and speech impairment. The appearance of the symptoms was accompanied by frequent episodes of epileptic seizures, with little clinical improvement on combined antiepileptic treatment. Magnetic resonance imaging that we performed showed a picture highly suggestive of neuronal ceroid lipofuscinosis – atrophy of the patients cerebrum and cerebellum. Genetic testing conducted resulted in the diagnosis of late infantile neuronal ceroid lipofuscinosis (LINCL).
Claussen M, Heim P, Knispel J, et al. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Am J Med Genet 1992; 42: 536-538.
Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281: 249-254.
Schulz A, Kohlschütter A. NCL Disorders: frequent causes of childhood dementia. Iran J Child Neurol 2013; 7: 1-8.
Williams RE, Mole SE. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Neurology 2012; 79: 183-191.
Canafoglia L, Morbin M, Scaioli V, et al. Recurrent generalized seizures, visual loss and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation. Epilepsia 2014; 55: 56-59.
Yu F, Xiao-Min L, Yin-He Ch, et al. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. Neurolog Sci 2015; 36: 1917-1919.
Geraets R, Koh S, Hastings M, et al. Moving towards effective therapeutic strategies for neuronal ceroid lipofuscinosis. Orphanet J Rare Dis 2016; 11: 40.
Jadav R, Sinha S, Yasha TC. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatric Neurology 2014; 50: 85-95.
Chang-Gong L, Sleat D, Donelly R, et al. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. Genomics 1998; 50: 206-212.
Qing YF, Zhou JG, Zhao MC, et al. Altered expression of TPP1 in fibroblast-like synovial cells might be involved in the pathogenesis of rheumatoid arthritis. Rheumatol Int 2012; 32: 2503-2510.
Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Journals System - logo
Scroll to top