Journal of Pediatric Epilepsy 2016; 05(01): 047-052
DOI: 10.1055/s-0035-1567855
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Case of Neuronal Ceroid Lipofuscinosis Masquerading as Panayiotopoulos Syndrome

Dara Albert
1   Division of Pediatric Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, United States
,
Emily De Los Reyes
1   Division of Pediatric Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, United States
,
Jorge Vidaurre
1   Division of Pediatric Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, United States
› Author Affiliations
Further Information

Publication History

16 March 2015

04 May 2015

Publication Date:
15 December 2015 (online)

Abstract

Neuronal ceroid lipofuscinosis (NCL) is probably the most common group of childhood progressive neurodegenerative disorders that typically present in childhood, and are uniformly fatal. We present here an unusual case of NCL based on clinical and electroencephalographic features as well as review the current literature on the early features of NCL. The purpose is to alert physicians about the atypical presentations of NCL encountered in clinical practice and to broaden their differential considerations so that earlier diagnoses can be made. In particular, patients presenting with epilepsy and behavioral problems who show developmental regression warrant further investigation.

Note

All authors developed the concept of the case report and reviewed the case history. All authors participated in drafting of the manuscript and all authors had final approval of the manuscript prior to submission.


 
  • References

  • 1 Patiño LC, Battu R, Ortega-Recalde O , et al. Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. PLoS ONE 2014; 9 (10) e109576
  • 2 Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta 2013; 1832 (11) 1866-1881
  • 3 Goebel HH. The neuronal ceroid-lipofuscinoses. J Child Neurol 1995; 10 (6) 424-437
  • 4 Simonati A, Pezzini F, Moro F, Santorelli FM. Neuronal ceroid lipofuscinosis: the increasing spectrum of an old disease. Curr Mol Med 2014; [Epub ahead of print]
  • 5 Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta 2013; 1832 (11) 1801-1806
  • 6 Pampiglione G, Harden A. Neurophysiological identification of a late infantile form of ‘neuronal lipidosis’. J Neurol Neurosurg Psychiatry 1973; 36 (1) 68-74
  • 7 Jadav RH, Sinha S, Yasha TC , et al. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol 2014; 50 (1) 85-95
  • 8 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) 1-10
  • 9 Vigevano F, Specchio N, Fejerman N. Idiopathic focal epilepsies. Handb Clin Neurol 2013; 111: 591-604
  • 10 Grosso S, Orrico A, Galli L, Di Bartolo R, Sorrentino V, Balestri P. SCN1A mutation associated with atypical Panayiotopoulos syndrome. Neurology 2007; 69 (6) 609-611
  • 11 Panayiotopoulos CP, Michael M, Sanders S, Valeta T, Koutroumanidis M. Benign childhood focal epilepsies: assessment of established and newly recognized syndromes. Brain 2008; 131 (Pt 9) 2264-2286
  • 12 Crystal RG, Sondhi D, Hackett NR , et al. Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis. Hum Gene Ther 2004; 15 (11) 1131-1154
  • 13 Worgall S, Sondhi D, Hackett NR , et al. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther 2008; 19 (5) 463-474
  • 14 Awano T, Katz ML, O'Brien DP , et al. A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis. Mol Genet Metab 2006; 89 (3) 254-260
  • 15 Katz ML, Coates JR, Sibigtroth CM , et al. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease). J Neurosci Res 2014; 92 (11) 1591-1598