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CNS 2016
December 05-07, 2016
Volume 7, Issue 5(Suppl) J Neurol Neurophysiol
ISSN: 2155-9562 JNN, an open access journal
conferenceseries .com
December 05-07, 2016 Dubai, UAE
2nd International Conference on
Central Nervous System Disorders & Therapeutics
Hussein Algahtani et al., J Neurol Neurophysiol 2016, 7:5(Suppl)
More than a decade of misdiagnosis of alternating hemiplegia of childhoodwith catastrophic outcome:
A case report
Hussein Algahtani, Bashair Ibrahim, Bader Shirah and Ahmad Aldarmahi
King Saud bin Abdulaziz University for Health Sciences, Saudi Arabia
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 with an estimated prevalence of 1/1,000,000 children. It is believed that this number could be an
underestimate due to variability in clinical presentation, lack of knowledge about the disease, and lack of advancement in the
diagnostic laboratory and radiologic test that will confirm the diagnosis. A thorough literature search yielded only one case
study reported from Saudi Arabia. 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. We are not only presenting an interesting clinical
entity and radiological images, but we are also shedding the light on a rare genetic disease with catastrophic sequelae. Since the
original description of AHC, many endeavors have been made to understand the pathophysiology of the disease which resulted
in linking the disease with mutations in the gene ATP1A3. Despite this substantial progress in the understanding of the disease,
no curative treatment has been discovered, and the disease continues to be challenging to treat. All the current treatments are
focused on reducing the frequency, duration, and severity of AHC episodes. The challenges in diagnosis and treatment lead
to a poor outcome as seen in our case. Early recognition and accurate diagnosis of the disease with the suitable treatment may
lead to improved outcome. Referral to a center with expertise in genetic disorders and access to genetic labs is of paramount
importance in the diagnosis of this disease. The complexity and severity of this disorder make more research crucial to find the
curative therapy and further understand the disease.
Biography
Hussein Algahtani is the Associate Dean of clinical affairs and the Head of the simulation center in the College of Medicine at King Saud bin Abdulaziz University for
Health Sciences in Jeddah, Saudi Arabia. He is also an Assistant Professor in Neurology and the neurosciences block coordinator. In addition, he is the Neurology
section Head and the Head of Neurophysiology laboratory at King Abdulaziz medical city in Jeddah, Saudi Arabia. He is a well-known researcher with more than
50 publications in the literature.