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  1. Lawrence Armstrong, paediatric specialist registrar,
  2. Valerie Orr, paediatric specialist registrar
  1. 1Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ
  1. Correspondence to: lawrence.armstrong{at}nhs.net

    A 9 month old girl presented to hospital in status epilepticus. Seizures were focal, affecting the right side, with secondary generalisation. She had no history of seizures. She was known to have an asymptomatic cardiac rhabdomyoma in the region of the left ventricular outflow tract. This had been diagnosed during investigation of a cardiac murmur detected during routine newborn examination. Her neurodevelopment was normal. Computed tomography was performed after resuscitation and stabilisation (fig 1⇓).

    Fig 1 Computed tomogram of the brain

    Questions

    • 1 What are the major abnormalities shown on the computed tomography scan?

    • 2. On the basis of these appearances and the medical history, what is the underlying diagnosis?

    • 3 How should seizures associated with this condition be managed?

    • 4 What is the neurodevelopmental prognosis for the child?

    Answers

    Short answers:

    • 1 The computed tomogram shows multiple areas of low attenuation in the subcortical and deep white matter, and discrete foci of subependymal calcification.

    • 2 Tuberous sclerosis.

    • 3 Status epilepticus should be treated acutely with benzodiazepines and phenytoin. Focal seizures should be treated with carbamazepine, whereas infantile spasms should be treated with vigabatrin.

    • 4 Tuberous sclerosis can be associated with significant learning difficulties and later with …

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