Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis

Naqvi, Sayed; Beach, Robert L.; Armao, Diane; Greenwood, Robert

doi:10.1016/s0887-8994(98)00091-5

Cited by 3 publications

(4 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although the presence of PPR in response to IPS in patients with CLN2 disease was observed >40 years ago by Pampiglione and Harden, 11 it was not studied systematically in some of the more recent studies. Furthermore, a PPR has been evident in CLN2 disease in some 16,20,21 None of the series reported the age at which the presence of PPR was observed or the stage of the disease. In a Spanish series, PPR was not observed in 12 children from 10 different centers, but once again it is not clear how IPS was performed and in how many patients.…”

Section: Discussionmentioning

confidence: 99%

“…4 Another study conducted in 18 patients with CLN2 disease using standardized EEG reported a large polyspike response to a single flash of light (evoked by IPS) in all patients in whom this test was performed, 13 but again it is unclear how many patients underwent IPS. Furthermore, a PPR has been evident in CLN2 disease in some 16,20,21 None of the series reported the age at which the presence of PPR was observed or the stage of the disease.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

et al. 2017

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Em ambos os casos não foram observadas anormalidades à fotostimulação intermitente, mesmo em freqüências baixas. A presença de espículas posteriores, desencadeadas pela fotostimulação intermitente em freqüência baixa, é um achado importante e prevalente nas formas infantil e infantil tardia de LCN2 7,18,19 .…”

Section: Discussionunclassified

Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal

Vasques

Valério

Reed

et al. 2005

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

Tradicionalmente, as lipofuscinoses ceróides neuronais (LCN) eram classificadas de acordo com a idade de início e características clínicas em quatro grandes grupos. Recentemente, os estudos genéticos possibilitaram uma classificação mais pormenorizada dessa entidade em oito formas, permitindo o diagnóstico mais preciso de casos previamente considerados atípicos. Por outro lado, foi demonstrado que mutações de um mesmo gene poderiam ser responsáveis por grande variedade de fenótipos clínicos. O objetivo deste estudo é apresentar dois irmãos com achados clínicos e eletrencefalográficos compatíveis com a forma juvenil de LCN mas com alterações ultra-estruturais características da forma infantil tardia dessa doença. Os achados eletrencefalográficos auxiliam no diagnóstico da LCN, mas pouco contribuem na sua classificação.

show abstract

“…17 Some studies of patients with CLN2 have reported characteristic electroencephalogram (EEG) findings of background slowing and a photoparoxysmal response to intermittent lowfrequency photic stimulation. 16,[18][19][20][21][22] Intermittent photic stimulation is an activating procedure to detect abnormal epileptogenic sensitivity to flickering light, 23,24 and the photoparoxysmal response can be observed as spikes, spike waves, or intermittent slow waves time-locked to the photic stimulation. 22,25 However, photoparoxysmal response is not seen in all patients with CLN2, with incidence estimates varying between 53% and 93%.…”

mentioning

confidence: 99%

Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease

Wirrell

Petropoulou

et al. 2022

J Child Neurol

View full text Add to dashboard Cite

Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a very rare neurodegenerative lysosomal storage disorder. Progression is rapid and irreversible, making early diagnosis crucial for timely treatment. A group of pediatric neurologists and neuroradiologists with expertise in CLN2 convened to discuss early electroencephalogram (EEG) and magnetic resonance imaging (MRI) findings in CLN2 diagnosis. Of 18 CLN2 cases, 16 (88.9%) had background slowing and 16 (88.9%) had epileptiform discharges on initial EEG. Seven of 17 (41.2%) patients who received intermittent low-frequency photic stimulation had a photoparoxysmal response. Initial MRIs showed subtle cerebellar (n = 14, 77.8%) or cerebral (n = 9, 50.0%) atrophy, white matter abnormalities (n = 11, 61.1%), and basal ganglia T2 hypointensity (n = 6, 33.3%), which became more apparent on follow-up MRI. The recognition of even subtle cerebellar atrophy and white matter signal changes in children aged 2-5 years who present with language delay, new-onset seizures, and an EEG with epileptiform discharges and background slowing should prompt investigation for CLN2. Because these early signs are not unique to CLN2, genetic testing is essential early in the diagnostic journey.

show abstract

Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis

Cited by 3 publications

References 12 publications

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease

Dificuldades no diagnóstico clínico e eletrencefalográfico de lipofuscinose ceróide neuronal

Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease

Contact Info

Product

Resources

About