A girl presenting with intractable seizure and decreased visual acuity

Abstract

Abstract. Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death. At least eleven subtypes of childhood-onset neuronal ceroid lipofuscinoses have been identified. The most common types are the infantile and classic juvenile forms. In this article, we present a 5-year- old girl with late infantile neuronal ceroid lipofuscinosis who presented with seizures and decreased visual acuity. She was healthy and her developmental milestones were normal until 3 years of age. At the age of 3-year-old, her intractable seizures started and decreased visual acuity was recognized. Based on the clinical findings and enzymatic test results, she was diagnosed as late-infantile ceroid lipofuscinosis.

Key words: Neuronal ceroid lipofuscinosis, seizure, visual failure

Keywords

• Neuronal ceroid lipofuscinosis, seizure, visual failure

References

1. Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 2006; 1762: 850-856.
2. Levin SW, Baker EH, Gropman A, et al. Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis. Arch Neurol 2009; 66: 1567- 1571.
3. Lee CW, Bang H, Oh YG, et al. A case of late infantile neuronal ceroid lipofuscinosis. Yonsei Med J 2003; 44: 331-335.
4. Topçu M, Tan H, Yalnizoğlu D, et al. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. Turk J Pediatr 2004; 46: 1-10.
5. Mitchison HM, Mole SE. Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Curr Opin Neurol 2001; 14: 795-803.
6. Kuizon S, DiMaiuta K, Walus M, et al. A critical tryptophan and Ca2+ in activation and catalysis of TPPI, the enzyme deficient in classic late-infantile neuronal ceroid lipofuscinosis. PLoS One 2010; 5: e11929.
7. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev 1988; 10: 80-83.
8. Mole SE, Zhong NA, Sarpong A, et al. New mutations in the neuronal ceroid lipofuscinosis genes. Eur J Paediatr Neurol 2001; 5: 7-10.

9. Ranta S, Topcu M, Tegelberg S, et al. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to northern epilepsy. Hum Mutat 2004; 23: 300-305.
10. Batten Disease Fact Sheet. National Institute of Neurological Disorders and stroke website. http://www.ninds.nih.gov/disorders/batten/batt en.htm. Accessed on September 12, 2008.