Neuronal Ceroid Lipofuscinosis (Batten's Disease)

So-called neuronal ceroid lipofuscinosis: Neurophysiological studies in 60 children

“…The very characteristic response to low rates of photic stimulation in these patients can only be elicited if appropriate techniques are employed taking care that the patient actually looks at each flash of the lamp. Since the diagnostic importance of the unusual response to photic stimulation in the Bielschowsky type patients was originally suggested (Pampiglione, 1961;Pampiglione and Lehovsky, 1968), there have been a few reports from other centres confirming the diagnostic value of these EEG features (Lehovsky, 1971;Gordon et al, 1972;Lopez Martin et al, 1974). It seems likely that more patients with the Bielschowsky type of disorder will be identified on EEG findings when a greater awareness of the problem develops, as occurred after the description of specific EEG features in subacute sclerosing panencephalitis.…”

Electroencephalographic (EEG) Photoparoxysmal Responses Under 5 Years of Age

“…All of them presented with nonprogressive encephalopathies, some of which were associated with malformative features possibly attributable to unidentified developmental disorders. The presence of photoparoxysmal responses in these patients may be related to the previous observation of abnormal responses to intermittent photic stimulation in patients with heterogeneous chromosomal abnormalities, 6 but there are still no extensive and targeted studies of this subject.…”

“…3 Photoparoxysmal responses also occur in patients with progressive myoclonus epilepsies due to various neurodegenerative disorders. 4 However, they are extremely rare in very young patients and considered to be a marker of Dravet syndrome 5 or late infantile neuronal ceroid lipofuscinoses, 6 which make these signs diagnostically significant.…”

Rectal biopsy in the diagnosis of neurological disease in childhood

“…It has been claimed (Gordon et al, 1972) that a definite diagnosis of Batten's disease can be made in life only by examination of a cortical biopsy. We believe this to be an exaggeration and that rectal biopsy, which can be used to exclude as well as to confirm the diagnosis in siblings, is a more acceptable and useful procedure.…”