Neuropediatrics 2008; 39 - P016
DOI: 10.1055/s-0029-1215785

CDKL5 mutation in neonatal onset of epilepsy

A Panzer 1, K Deuschle 1, C Schell-Apacik 2, P Burfeind 3, N Esser 1, A von Moers 1
  • 1DRK Kliniken Westend, Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Berlin, Germany
  • 2Praxis für Humangenetik an den DRK Kliniken Westend, Berlin, Germany
  • 3Institut für Humangenetik der Universität Göttingen, Göttingen, Germany

Introduction: The diagnostic approach on neonatal seizures focuses on the exclusion of a hypoxic event, intracerebral bleeding or ischemia, cerebral malformation, infection or metabolic diseases. If this basic diagnostic does not lead to any result, disorders in the context of complex syndromes need to be considered.

Case report: We report of a 11– months – old girl with tonic – clonic seizures since her second day of life. She was born to non – consanguineous, healthy parents without any family history for neurological disorders, pregnancy and delivery were uneventful. Cerebral imaging and tests for metabolic disorders were unremarkable. EEG was initially normal, later showed brain maturity delay. The child developed an epilepsy resistant to therapy with up to 60 seizures a months, with only short seizure – free periods under VPA and Bromide. Besides discrete morphological stigmata including plagiocephaly, scarce scalp hair and a thin upper lip, the child showed neonatal hypotonia, stereotypic hand movements, deceleration of head growth and psychomotor retardation.

Results: CDKL5 analysis showed the heterocygote mutation c.119C>T (p.A40V).

Conclusion: Differenzial diagnosis in patients with neonatal onset of seizures accompanied by normal interictal EEG, hypotonia, retardation, microcephalic head growth and stereotypic hand movements suggests an atypical Rett syndrome. In this case CDKL5 analysis led to the diagnosis.