Rud syndrome with focal cortical dysplasia: A case report

Sara Marconi, Gaetano Cantalupo, Federica Marliani, Francesco Toni, Giuseppe Capovilla, Elena Lorenzetti, Antonino Romeo, Roberto Michelucci, Guido Rubboli

Research output: Contribution to journalArticlepeer-review


We report a female patient with ichthyosis, epilepsy, mental retardation, hypergonadotrophic hypogonadism, polyneuropathy, and cranial dysmorphisms. This clinical picture may satisfy the main diagnostic criteria that characterize Rud syndrome (RS), a rare neurocutaneous disease. The patient underwent extensive clinical evaluation, neurophysiological studies (wakefulness and sleep EEG, EMG), dermatological and endocrinological evaluation and neuroimaging study (3. Tesla brain MRI). Interestingly, brain MRI unveiled a malformation of cortical development, never reported previously in RS. Although seizure semiology and EEG features could not provide clear cut information suggesting a focal onset, the role of this MRI finding in the genesis of the epileptic seizures cannot be ruled out. The finding of a focal cortical dysplasia in RS might be related to genetic abnormalities affecting the development of both epidermis and neural structures with the same embryological origin.

Original languageEnglish
Pages (from-to)683-686
Number of pages4
JournalBrain and Development
Issue number8
Publication statusPublished - Sep 2011


  • Congenital ichthyosis
  • Epilepsy
  • Focal cortical dysplasia
  • Mental retardation
  • Rud syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Developmental Neuroscience
  • Pediatrics, Perinatology, and Child Health


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