title: Menkes disease - An important cause of early onset refractory seizures.
abstract: BACKGROUND
  Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities.
  
  
  OBJECTIVE
  We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute.
  
  
  METHODS
  The medical records of children diagnosed with Menkes disease admitted in the pediatric neurology ward or attending the special pediatric neurology clinic at a tertiary care and a referral hospital in North India, from January 2010 to December 2012, were retrospectively reviewed. The clinical data of each case was subsequently summarized and reported.
  
  
  METHODS
  Descriptive statistics were used.
  
  
  RESULTS
  During the study period, 1174 children were seen. Out of these, 6 cases were diagnosed as Menkes disease on the basis of clinical phenotype, low serum copper and ceruloplasmin and supportive neuroimaging. All the children were males and had disease onset within 3 months of age, with 4 children presenting in the neonatal period. Global developmental delay and refractory seizures were the predominant clinical symptoms. Two children had symptomatic West syndrome. Other seizure semiologies included tonic-clonic (4), myoclonic (2) and tonic seizures (1). The electroencephalographic abnormalities included hypsarrythmia (2) and multifocal epileptiform discharges (3). The salient radiological features included white matter changes, temporal lobe abnormalities, global atrophy, subdural hygromas and tortuous cerebral blood vessels.
  
  
  CONCLUSIONS
  Menkes disease should be suspected in a case of refractory early onset seizures especially in the presence of subtle clinical clues. The neuroimaging findings may further support the diagnosis.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Lakshminarayanan
authors.initials: L
authors.lastname: Kannan
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Biswaroop
authors.initials: B
authors.lastname: Chakrabarty
authors.affiliation: Department of Radio-Diagnosis, Jai Prakash Narayan Apex Trauma Centre, New Delhi, India.
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.affiliation: Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
keywords: Epileptic spasms; Menkes disease; leukodystrophy; neonatal seizures; subdural hygromas