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Early onset epileptic auditory and visual agnosia with spontaneous recovery associated with Tourette's syndrome
  1. B G R NEVILLE
  1. Neurosciences Unit, Institute of Child Health (UCL), The Wolfson Centre, Mecklenburgh Square, London WC1N 2AP, UK
  2. General Hospital, Gloucester Street, St Helier, Jersey HE2 3QS, UK
  3. Principal Educational Psychologist, States of Jersey Education, PO Box 142, Jersey JE4 8QJ, UK
  1. Professor B G R Neville
  1. H C SPRATT
  1. Neurosciences Unit, Institute of Child Health (UCL), The Wolfson Centre, Mecklenburgh Square, London WC1N 2AP, UK
  2. General Hospital, Gloucester Street, St Helier, Jersey HE2 3QS, UK
  3. Principal Educational Psychologist, States of Jersey Education, PO Box 142, Jersey JE4 8QJ, UK
  1. Professor B G R Neville
  1. J BIRTWISTLE
  1. Neurosciences Unit, Institute of Child Health (UCL), The Wolfson Centre, Mecklenburgh Square, London WC1N 2AP, UK
  2. General Hospital, Gloucester Street, St Helier, Jersey HE2 3QS, UK
  3. Principal Educational Psychologist, States of Jersey Education, PO Box 142, Jersey JE4 8QJ, UK
  1. Professor B G R Neville

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Potentially recoverable impairments of cognition, behaviour, and movement are integral to early onset epilepsies.1 The classic epilepsy syndrome presenting as developmental regression is Landau-Kleffner syndrome, in which receptive aphasia and behavioural, cognitive, and motor impairments occur with centrotemporal discharges enhanced in sleep.2 We report a novel biography of domain specific impairments and recovery in infantile spasms.

At 12 years of age the patient presented with Tourette's syndrome, with an extraordinary developmental history of epilepsy, regression, and recovery. He was normal until 6 months, being socially responsive, visually alert, reaching and transferring objects. Development slowed from 7 months. There was no relevant family history.

At 8 months runs of typical symmetric flexion spasms at intervals of 5–10 seconds, 3–4 times/day began. The EEG was disorganised, with bilateral very high amplitude (450 μV) activity and more left temporal area multifocal spikes and polyspikes, approaching classic hypsarrhythmia. ACTH (10 units daily and 40 units daily from 10–12 months) stopped the spasms after 2 weeks. Electroencephalography, CT, metabolic investigations, electroretinography, and visually evoked potentials were normal. CMV antibodies were present in blood, and virus in the urine.

Physical examination was normal. At 1 year an EEG showed excess of irregular slow activity without spikes. A sleep record was not performed.

One to two brief generalised seizures a week, consisting of slumping, losing consciousness and bilateral limb shaking, continued to 5 years of age. Occasional brief absences continued, were not treated, and stopped at 10.6 years. An EEG at 12 years was normal.

He lost smiling, visual following, and responsiveness at 7 months, 2 weeks before spasms were recognised. At 10.5 months development was assessed at a 7 month level. Development remained very slow to 3–3.5 years. At 3 years he could not understand speech or visually recognise his mother and performance skills were poor—for example, he could not thread beads. Cognition was assessed at less than half his chronological age, indicating educational needs as a child with severe learning difficulties. At 3.5 years speech understanding appeared, and by 4.5 years he was using a lot of speech. His family felt that “their child had returned”.

On the Portage scale at 2.5 years of age, the raw scores and age level were socialisation 38: 1–2 years; language 7: 0–1 years: self help 24: 1–2 years; cognitive 18: 1–2 years; motor 68: 2–3 years. Non-motor skills were below 2 years with severe language retardation.

A Griffiths assessment at 3.10 years showed significant recovery: hearing and speech 3.8 years; performance 3.6 years; locomotor 2.7 years; eye/hand coordination 2.8 years; personal/social 3.1 years

He transferred from special to mainstream education. Coordination problems continued.

He made good academic progress but with behavioural difficulties. Psychometric testing at 12 years showed above average performance and superior language scores with slow handwriting. He passed seven GCSEs and three A levels.

He had early problems with chewing and feeding, difficulties with drawing, buttons and laces, toiletting, and in using a knife and fork. Walking and running were abnormal and he could not use a bicycle. He showed slow alternating tongue movements, difficulty with manual gesture imitation, difficulty accessing hip movements, brisk tendon reflexes, and a few beats of clonus at the ankle. The motor picture was dominated by dyspraxia.

From year 2 he was restless with different compulsions—for example, switching lights on and off, scratching his teeth and nose, tooth grinding, hand fiddling, and face and shoulder movements. At 12 years, he had typical complex tics of his head, face and hands, and spasms, sometimes painful, of the jaw, legs, and abdomen. Vocalisations were either unintelligible and/or repeated words—for example, “zip”.

Brain MRI at 12 years was normal.

Three features suggest a good outcome for this child with an otherwise typical presentation with infantile spasms: late age of onset, treatment response, and the lack of pre-existing pathology. Severe language impairment at 2.5 years might suggest a variant of Landau-Kleffner syndrome (acquired epileptic aphasia),2but atypically with very early onset and complete recovery. The recovery period suggests a combination of visual and auditory agnosia and apraxia, which could be regarded as global impairment. Selective cognitive deficits—for example, language impairments with epilepsy—are described, and transient loss of visual function, but not prolonged visual agnosia with infantile spasms. Although subclinical seizures in sleep may have been the cause, sleep studies were not performed.

Language and visual recovery from 3.5 years may indicate earlier cortical storing of visual and language information which was not accessible. Clinical,1 neurophysiological,3and surgical4 evidence supports this idea. This report supports the hypothesis that epilepsy denies access to information rather than inhibiting its acquisition.

We also propose that the early epileptic encephalopathy (impairments occurring with epilepsy which are not explicable on a structural basis) associated with infantile spasms selectively disturbs cognitive accessing of visual and auditory information temporarily after 6 months of age but permanently before that age.

Apraxia in epilepsy is well recognised,5 but Tourette's syndrome is unexpected and may be an accidental association. When investigated, neither were driven by active epilepsy. No primary pathology was found and clinical manifestations, natural history, and imaging are not those of CMV encephalitis despite evidence of infection.

In conclusion, a boy with infantile spasms at 7–8 months developed severe global regression which seemed to be a combination of severe auditory and visual agnosia and apraxia which persisted for more than 2 years after prompt relief of infantile spasms but continuing mild generalised seizures. He was assessed as severely cognitively impaired. A total spontaneous cognitive recovery occurred from 3.5 years. These impairments seem to have been a pervasive effect of epilepsy (an epileptic encephalopathy), and suggest that if infantile spasms occur before 6 months there is a high risk of permanent impairment but if later there is potential for recovery. During the prolonged phase of “agnosia” information seems to have been acquired but was not accessible. The comorbidity of Tourette's syndrome is unexplained.

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