Treatment and outcome

The most effective treatment has been a combination of valproate (35 mg/kg per day), clonazepam (0.25 mg/kg per day) and benzhexol (3 mg/kg per day). Piracetam (up to a maximum dose of 600 mg/kg per day) was very effective in controlling this patient's non-epileptic myoclonus when he was 7-9 years of age. Lamotrigine was thought to have exacerbated his epileptic and non-epileptic myoclonus.

The patient is currently aged 11 years. He has severe spastic quadriplegia and cortical blindness. He has a feeding gastrostomy tube and requires 24-hour nursing care. He experiences daily myoclonic seizures and tonic-clonic seizures every 6-8 weeks. The patient also shows very frequent non-epileptic myoclonus that is largely spontaneous, but also stimulus-sensitive, as well as other involuntary (predominantly choreiform) movements.

This child presented at Tk years of age with two seizures. He was otherwise normal. The subsequent development of frequent myoclonic seizures, mild ataxia and behaviour changes, together with photosensitivity on the EEG, clearly raised a possible diagnosis of a form of progressive myoclonic epilepsy and an

The occurrence of photosensitivity is an unusual finding at this age (3 years), but in itself is not pathognomonic or diagnostic of any one specific neurodegenerative disorder. However, when attempting to identify photosensitivity, IPS should always include a flash frequency of 1 Hz. The occurrence of high-amplitude discharges that appear to be time-locked to each flash is virtually pathognomonic of late infantile NCL. The failure to use single flashes during IPS may contribute to a delay in the diagnosis of this disorder. Early diagnosis is important both for genetic counselling (including the possible prenatal identification of affected fetuses) and for the detection of younger, asymptomatic affected siblings.

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