Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome

Epileptic Disord. 2003 Mar;5(1):27-30.

Abstract

We report the case of a 29-year-old patient, who suffered from drug resistant laughing seizures since childhood. The clinical examination was normal, except for sequelae of hand and feet surgery during infancy for post-axial polydactyly. Cerebral MRI showed a hypothalamic hamartoma. The association of complex limb abnormalities with hypothalamic hamartoma lead to the diagnosis of Pallister-Hall syndrome. This syndrome is related to a mutation of gene GLI3, located on chromosome 7p13, and its inheritance is autosomal dominant. In the case of laughing seizures, a cerebral MRI should be performed to look for a hypothalamic hamartoma. The observation of such lesions indicates the necessity of standard radiographies of the hands and feet, to search for associated abnormalities. These findings might help to recognize a Pallister-Hall syndrome, thus allowing genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 7 / genetics
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Epilepsy / physiopathology*
  • Female
  • Hamartoma / physiopathology*
  • Humans
  • Hypothalamic Diseases / diagnosis
  • Hypothalamic Diseases / genetics
  • Hypothalamic Diseases / physiopathology*
  • Limb Deformities, Congenital / complications
  • Limb Deformities, Congenital / diagnostic imaging
  • Magnetic Resonance Imaging
  • Pedigree
  • Radiography
  • Syndrome