| Article Access Statistics|
| Viewed||2675 |
| Printed||69 |
| Emailed||1 |
| PDF Downloaded||52 |
| Comments ||[Add] |
| Cited by others ||1 |
Click on image for details.
|LETTER TO EDITOR
|Year : 2016 | Volume
| Issue : 3 | Page : 559-561
Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation
Puneet Jain1, Suvasini Sharma2, Satinder Aneja2
1 Department of Neonatal, Pediatric and Adolescent Medicine, Division of Pediatric Neurology, BL Kapur Super Speciality Hospital, New Delhi, India
2 Department of Pediatrics, Division of Pediatric Neurology, Lady Harding Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India
|Date of Web Publication||3-May-2016|
Department of Pediatrics, Division of Pediatric Neurology, Lady Harding Medical College and Associated Kalawati Saran Children's Hospital, New Delhi
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jain P, Sharma S, Aneja S. Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. Neurol India 2016;64:559-61
|How to cite this URL:|
Jain P, Sharma S, Aneja S. Pseudoperiodic electroencephalogram pattern in a child with late infantile neuronal ceroid lipofuscinoses with a novel CLN6 mutation. Neurol India [serial online] 2016 [cited 2022 Oct 6];64:559-61. Available from: https://www.neurologyindia.com/text.asp?2016/64/3/559/181551
A 4.5-year-old boy presented with a gradual regression of milestones noted since the age of 2 years. He was born to a consanguineous couple and had no adverse perinatal events. He achieved age-appropriate milestones until 2 years of age when the parents noted a decreased speech output and slurring, with complete loss of speech over 4 months. Subsequently, he also had gait abnormality with loss of ambulation for the last 6 months. There was no history of seizures or hearing impairment. There was no significant family history. Examination revealed a normal head circumference, a normal retinal examination, spasticity in the lower limbs, and distal dyskinesia. He could recognize parents and indicated his needs by gestures.
His magnetic resonance imaging of the brain revealed a mild cerebellar atrophy. Other investigations showed a normal blood gas analysis, arterial lactate, ammonia, plasma acylcarnitine profile, urinary organic acids, and nerve conduction studies. His sleep electroencephalogram (EEG) showed pseudoperiodic epileptiform discharges [Figure 1]. A novel homozygous missense variation (chr15:68500605; A>G; c.809T>C) that results in the amino acid substitution of proline to leucine at codon 270 (p.L270P) was detected in exon-7 of the CLN6-gene in the case by new generation sequencing and was further validated using Sanger sequencing. The same variation was detected in the heterozygous condition in both of his unaffected parents. Physical rehabilitation and oral flupirtine was initiated and genetic counseling of the family was done.
|Figure 1: Electroencephalogram in the case with late infantile neuronal ceroid lipofuscinoses: The sleep record shows generalized synchronous high-amplitude spike wave discharges recurring at an interval of 1–6 s|
Click here to view
Neuronal ceroid lipofuscinoses (NCL) is a common etiology for neurodegeneration in childhood. The clinical form presenting between 4 and 6 years of age has been referred to as the late infantile form. Various variants of this form have been described with a more protracted course. The CLN6-deficient form has been described in patients from India and Pakistan. The affected children present with neuroregression associated with ataxia and variable pyramidal and extrapyramidal features. Seizures including myoclonus, and vision loss may be delayed by >6 months from the onset of the initial symptoms. The reported case did not have seizures or visual loss at presentation.
The commonly reported EEG patterns in NCL include a poorly organized background irregular slow spike and wave discharges, multifocal discharges, and photoparoxysmal response, especially at lower frequencies.
Veneselli et al., reported the pseudoperiodic EEG pattern in 15/18 cases of late infantile NCL (a genetic evaluation was not done in this study) and suggested that its presence may help in the establishment of an early diagnosis of this entity. A similar pattern has been reported in juvenile NCL  and Kufs disease (adult form). Our patient had this pattern in the absence of clinical seizures.
Thus, NCL should be considered in the differential diagnosis of a child with neuroregression even in the absence of myoclonus and vision loss. Pseudoperiodic discharges may help in establishing its early diagnosis.
The authors are grateful to MedGenome Labs Pvt. Ltd., Bengaluru, India, for performing the genetic testing.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| » References|| |
Canafoglia L, Gilioli I, Invernizzi F, Sofia V, Fugnanesi V, Morbin M, et al.
Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations. Neurology 2015;85:316-24.
Veneselli E, Biancheri R, Buoni S, Fois A. Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis. Brain Dev 2001;23:306-11.
Jadav RH, Sinha S, Yasha TC, Aravinda H, Gayathri N, Rao S, et al.
Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes. Pediatr Neurol 2014;50:85-95.
Nijssen PC, Brekelmans GJ, Roos RA. Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis. Clin Neurophysiol 2009;120:1782-6.
|This article has been cited by|
||A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature
| ||Paschalis Nicolaou, George A. Tanteles, Christina Votsi, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Kyproula Christodoulou, Yiolanda-Panayiota Christou |
| ||Frontiers in Genetics. 2021; 12 |
|[Pubmed] | [DOI]|