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2017 ; 2017
(ä): 5769837
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English Wikipedia
More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with
Catastrophic Outcome
#MMPMID28900444
Algahtani H
; Ibrahim B
; Shirah B
; Aldarmahi A
; Abdullah A
Case Rep Med
2017[]; 2017
(ä): 5769837
PMID28900444
show ga
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.