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Case Reports in Medicine
Volume 2017, Article ID 5769837, 5 pages
https://doi.org/10.1155/2017/5769837
Case Report

More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome

1King Abdulaziz Medical City, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
2King Abdulaziz University, Jeddah, Saudi Arabia
3King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
4King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia
5Batterjee Medical College, Jeddah, Saudi Arabia

Correspondence should be addressed to Hussein Algahtani; moc.liamtoh@inathaglah

Received 26 March 2017; Revised 7 July 2017; Accepted 19 July 2017; Published 16 August 2017

Academic Editor: Mamede de Carvalho

Copyright © 2017 Hussein Algahtani et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Alternating hemiplegia of childhood (AHC) is a distinct clinical disorder characterized by recurrent episodes of hemiplegia, abnormal ocular movement, and progressive developmental delay. It is an extremely rare genetic disorder related to ATP1A3 gene mutations. In this paper, we present a case of AHC in which the diagnosis was missed for many years until severe hypoxic brain insult occurred from prolonged status epilepticus. Not only we are presenting an interesting clinical entity and radiological images, but also we are shedding the light on a rare genetic disease with catastrophic sequelae. The challenges in diagnosis and treatment lead to a poor outcome as seen in our case. Although early recognition and accurate diagnosis and treatment of the disease may not change the outcome, counseling of the family may change their expectation and reduce their frustration. Referral to a center with expertise in genetic disorders and access to genetic laboratories is of paramount importance in the diagnosis of this disease. Due to the rarity of this disease in Saudi Arabia, a genotype-phenotype correlation is not feasible.