Article Text

  1. L Muino1,
  2. F de Beer1,
  3. C A Verburgh2,
  4. F A Langius1,
  5. W H Linssen1
  1. 1Department Of Paediatrics, Sint Lucas Andreas Hospital, Amsterdam, The Netherlands
  2. 2Department Of Dermatology, Sint Lucas Andreas Hospital, Amsterdam, The Netherlands


Purpose Tuberous sclerosis is an autosomal dominant inherited neurocutaneous disorder characterized by the involvement of multiple organs and a variety of clinical presentations. We present a patient with atypical seizures and skin hypopigmentation.

Case report A 2 year old Moroccan girl presented with a recent history of episodic abdominal pain, spasm and staring to the left side. She was prematurely born after a gestational age of 36 weeks and 2 days and had a normal birth weight. She was previously admitted to the hospital because of an episode with fever and a head trauma. Physical examination revealed several hypopigmented areas of the skin. There were no other abnormalities observed.

An EEG showed focal epileptic activity and a CT-scan of the brain showed multiple subependymal noduli. The diagnosis of tuberous sclerosis was made. She had a mutation of the TSC1 complex. The TSC2 complex was not altered. A routine check-up for other abnormalities consistent with tuberous sclerosis was normal. She was treated with valproic acid for her seizures and 3 months later the clinical symptoms of epilepsy and abdominal pains had disappeared. Her older sister and her father were also evaluated and diagnosed with tuberous sclerosis.

Conclusion The clinical presentation of epilepsy may show a wide variety, especially in young children. Tuberous sclerosis is a known cause of epilepsy, but diagnosis may be difficult and may depend on a positive family history. Episodic abdominal pain and spasms with staring are rare presentations of symptomatic epilepsy in this child with tuberous sclerosis.

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