Retinal function in patients with the neuronal ceroid lipofuscinosis
            phenotype

Quagliato, Elizabeth Maria Aparecida Barasnevicius; Rocha, Daniel; Sacai, Paula Yuri; Watanabe, Sung Eun Song; Salomão, Solange Rios; Berezovsky, Adriana

doi:10.5935/0004-2749.20170053

Cited by 15 publications

(22 citation statements)

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“…Visual impairment was a presenting symptom in CLN3 disease and in one patient with CLN7 disease. One patient with CLN1 disease showed optic disc pallor, in contrast with a previous report . Cognitive decline was identified in CLN3 disease at 11 years, which was later than in a further study .…”

Section: Discussioncontrasting

confidence: 79%

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Dozières‐Puyravel

Nasser

Elmaleh‐Bergès

et al. 2019

Develop Med Child Neuro

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Neuronal ceroid lipofuscinoses (NCLs) are rare, progressive disorders. Through this series of 20 patients with NCL, we illustrate differences between subtypes in their presenting symptoms and clinical, imaging, and electrophysiological results to raise awareness of symptom diversity. Data were available on presenting symptoms, genetics, magnetic resonance imaging (MRI), electroencephalography (including with low‐frequency intermittent photic stimulation), visual responses, and electron microscopy. Causal mutations were identified in 10 patients. Eleven patients had neuronal ceroid lipofuscinosis type 2 (CLN2) disease and their most common presenting symptom was seizures, although motor and language defects were also reported. Five patients with CLN2 disease showed abnormalities at initial MRI, but only three showed a photic response with low‐frequency stimulation. Seizures were not as common a presenting symptom in other NCL subtypes. Patients with NCLs present with diverse symptoms, which may not be characteristic in early disease stages. These signs and symptoms should lead to rapid diagnostic confirmatory testing for NCLs. What this paper adds Disease presentation is not uniform for neuronal ceroid lipofuscinoses. Characteristic clinical test results may not be identified in early disease stages.

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Section: Discussioncontrasting

confidence: 79%

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Dozières‐Puyravel

Nasser

Elmaleh‐Bergès

et al. 2019

Develop Med Child Neuro

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“…Unlike other NCLs, CLN2 disease infrequently presents with visual impairment . Visual decline is common with disease progression …”

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confidence: 99%

“…10 Unlike other NCLs, CLN2 disease infrequently presents with visual impairment. 13 Visual decline is common with disease progression. 2,6,9,14 Diagnosis of CLN2 disease is based on a combination of enzyme and gene testing (see Fig.…”

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confidence: 99%

Neuronal ceroid lipofuscinosis type 2: an Australian case series

Johnson

Mandelstam

Andrews

et al. 2020

J Paediatrics Child Health

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Aim Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2–4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a range of common epilepsies. We aim to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages. Methods We present a series of 13 Australian patients with CLN2 disease, describing clinical features, disease evolution, neuroimaging, electroencephalogram, biochemical and genetic results. Expert neuroradiological magnetic resonance imaging (MRI) analysis was retrospectively performed on 10 cases. Results Twelve patients presented with seizures, with initial seizures being focal (n = 4), generalised tonic–clonic (n = 3), absence (n = 3) and febrile (n = 2). Eleven patients (85%) had a language delay before the onset of seizures. Cerebellar or cerebral atrophy was noted in all patients on centralised MRI review, with abnormalities of the brain‐stem, ventricles, corpus callosum and hippocampi. Conclusions Early language delay with the onset of seizures at 2–4 years of age is the hallmark of CLN2 disease. MRI findings of early subtle atrophy in the cerebellum or posterior cortical regions should hasten testing for CLN2 disease to enable early initiation of enzyme replacement therapy.

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“…In electrophysiological fERG, damage to the retinal bioelectrical function was observed, to a greater extent in the cone photoreceptor system than in rods, indicating cone rod degeneration of the retina [2]. The fERG study is an important indicator for progressive metabolic changes in cone photoreceptors and retinal rods [10,11]. In the early, asymptomatic phase of the disease, pathological changes are found in Therapy in all forms of ceroid lipofuscinosis in children involves the use of drugs that interrupt seizures: valproic acid, topiramate, lamotrigine and other anti-epileptic drugs.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmologic symptoms and diagnosis of a patient with Jansky-Bielschowsky disease

Modrzejewska¹,

Kirkiewicz²,

Kiszkielis³

et al. 2020

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Introduction: Type 2 neuronal ceroid lipofuscinosis (CLN2) is a rare lysosomal neurodegenerative disease in which ceroid accumulating mainly in nerve cells. The disease manifests itself in the first years of a child's life as convulsions, epilepsy, gradual deterioration of motor function with gradual visual acuity impairment. Case report: In a five-year-old patient with divergent squint, nystagmus, epilepsy confirmed in EEG and with significance decrease in visual acuity, ophthalmological examinations confirmed at irregular, rearrangement of dye, covering the macular region indicating the presence of the bull's eye maculopathy. Additional changes were features of pallor of optic nerve disc with generalized retinal vessels vasoconstriction. In electrophysiological tests of fERG, damage of the bioelectrophysiological function of the retina indicating cone-rod like degeneration was recorded. In lab tests, reduction of lysosomal enzyme activity-tripeptidyl peptidase (TPP1) in leukocytes (CLN2) 0.7 U/mg of protein/h (corrected level: 54 ±18.2 U/mg of protein/h) was observed. Other metabolic, mitochondrial and mucopolysaccharidosis conditions have been excluded. The diagnosis was supplemented by numerous atrophic changes inside the brain, cerebellum, and widening of the central nervous system (CNS) ventricular spaces described in MRI. Conclusions: An important element of the early diagnosis of CLN2 is the reduction of TPP1 activity with the characteristic eye fundus image that indicates the presence of buffalo maculopathy. An inseparable complement to the diagnosis of CLN2 is the fERG test indicating lesions of the rod-cone like system that underlie visual disturbances.

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Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype

Cited by 15 publications

References 0 publications

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Neuronal ceroid lipofuscinosis type 2: an Australian case series

Ophthalmologic symptoms and diagnosis of a patient with Jansky-Bielschowsky disease

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