Journal of Pediatric Neurosciences
ORIGINAL ARTICLE
Year
: 2014  |  Volume : 9  |  Issue : 1  |  Page : 11--16

Menkes disease – An important cause of early onset refractory seizures


Puneet Jain1, Lakshminarayanan Kannan1, Biswaroop Chakrabarty1, Atin Kumar2, Neerja Gupta3, Madhulika Kabra3, Sheffali Gulati1 
1 Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Radio Diagnosis, Jai Prakash Narayan Apex Trauma Centre, New Delhi, India
3 Division of Genetics, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Sheffali Gulati
Department of Pediatrics, Division of Pediatric Neurology, All India Institute of Medical Sciences, New Delhi - 110 029
India

Context: 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. Aims: We aimed to evaluate the clinical, electrophysiological and radiological features of children with Menkes disease seen at our institute. Setting/Design: 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. Statistical analysis used: 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.


How to cite this article:
Jain P, Kannan L, Chakrabarty B, Kumar A, Gupta N, Kabra M, Gulati S. Menkes disease – An important cause of early onset refractory seizures.J Pediatr Neurosci 2014;9:11-16


How to cite this URL:
Jain P, Kannan L, Chakrabarty B, Kumar A, Gupta N, Kabra M, Gulati S. Menkes disease – An important cause of early onset refractory seizures. J Pediatr Neurosci [serial online] 2014 [cited 2020 Jul 3 ];9:11-16
Available from: http://www.pediatricneurosciences.com/article.asp?issn=1817-1745;year=2014;volume=9;issue=1;spage=11;epage=16;aulast=Jain;type=0