A case of childhood Kufs' disease.

Barthez-Carpentier, Marie-Anne; Billard, C.; Maheut, J.; Santini, Juliana; Ruchoux, M M

doi:10.1136/jnnp.54.7.655-a

Cited by 8 publications

(5 citation statements)

References 10 publications

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“…Another neurophysiologic marker of cortical hyperexcitability was the presence of a prominent PPR. This is characteristic of LINCL [30][31][32][33] and has been recently reported in vLINCL associated with CLN1 34 but not in patients with CLN8 mutation. 35 Our observation indicates that PPR was "extreme" in patients with Kufs disease, with a typical finding of 1:1 photomyoclonic response to low-frequency stimulation (as previously described 7 ), but prominent PPRs were also present since the earliest observation in all of our children, thus representing a consistent and "connecting" marker in the different phenotypes.…”

Section: Resultsmentioning

confidence: 87%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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In all patients, multifocal myoclonic jerks and seizures were a key feature, but myoclonic seizures were an early and prominent sign in the teenage/adult form only. Conversely, the childhood-onset form was characterized by initial and severe cognitive impairment coupled with electroretinogram and EEG attenuation. Cortical hyperexcitability, shown by the PPR and enlarged somatosensory evoked potentials, was a universal feature.

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Section: Resultsmentioning

confidence: 87%

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

et al. 2015

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“…We identified 14 patients who underwent rectal biopsy in the suspicion of KD . In 2 of 3 patients in which both ganglion and non‐ganglion cells were evaluated by TEM , FP inclusions or GRODs were found in ganglion cells only . On the contrary, Gelot et al .…”

Section: Review Of the Literaturementioning

confidence: 99%

“…We identified 14 patients who underwent rectal biopsy in the suspicion of KD [2,3,7,[10][11][12][13][14][15][16][17][18]. In 2 of Table 2).…”

Section: Review Of the Literaturementioning

confidence: 99%

“…3 patients in which both ganglion and non-ganglion cells were evaluated by TEM [10,13,15], FP inclusions or GRODs were found in ganglion cells only [13,15]. On the contrary, Gelot et al [10] reported a young woman whose rectal biopsy showed FP inclusions and GRODs in VSMC only, while ganglion nerve cells had no specific lipofuscin deposits.…”

Section: Figures 2 Fp Inclusion Is Visible (Arrow) In a Pericyte In Amentioning

confidence: 99%

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Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

Ferlazzo

Gasparini

Pasquinelli

et al. 2012

Euro J of Neurology

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Fingerprints are the most common ultrastructural finding in rectal biopsy in patients with suspicion of KD. However, their presence in pericytes and VSMC is not specific for KD because they may be found in controls subjects. Our literature review revealed that data on the value of rectal biopsy in the diagnosis of KD are scarce. In light of these findings, the relevance of rectal biopsy in such condition should be re-evaluated.

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“…Seven patients showed photoparoxysmal responses associated with progressive neurologic disorders. Only 2 fitted the definition of neuronal ceroid lipofuscinoses, whose late infantile forms are known to be associated with this EEG pattern 6,14 –16 ; the others had various disorders that are usually not associated with photoparoxysmal responses at the ages considered in this study.…”

Section: Discussionmentioning

confidence: 94%

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age

et al. 2015

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Electroencephalographic (EEG) photoparoxysmal response has been little investigated in very young patients. We studied 5055 patients aged less than 5 years with no acquired brain damage, who underwent EEG recording. We determined the prevalence and significance of photoparoxysmal response induced by 1 to 20 Hz photic stimulation. Fifty-three showed photoparoxysmal response and were diagnosed as having Dravet syndrome (11), epileptic encephalopathy with myoclonic seizures (8), neurodegenerative disorders (8), benign idiopathic epilepsies (9), and static disorders with a known or suspected genetic origin (17). Photoparoxysmal response occurred in response to 1 to 5 Hz trains in 41.5% subjects. In most patients with epileptic encephalopathies, photoparoxysmal response was a transient finding: in 53.2%, it failed to be replicated in the recordings performed more than 6 months after initial evaluation. Photoparoxysmal response is rare in patients aged less than 5 years and has some peculiarities such as occurrence with low-frequency stimuli. Its distribution in specific conditions indicates that photoparoxysmal response may be useful in diagnostic workup.

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A case of childhood Kufs' disease.

Cited by 8 publications

References 10 publications

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age

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