Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:More Than a Decade of Misdiagnosis of Alternating Hemiplegia of Childhood with Catastrophic Outcome. 2890 Apr 44

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder and characterized by infantile onset hemiplegia involving either side of the body and other paroxysmal spells, including epilepsy. The N-methyl-D-aspartate (NMDA) receptor noncompetitive antagonist ketamine has been proved to be effective terminating status epilepticus (SE) in animal models and human case studies. Less than 50 cases, those use ketamine, have been reported in the management of pediatric SE, but its effectiveness is unknown in patients with AHC. The author reported two patients with molecularly confirmed AHC who presented with super refractory status epilepticus. These two patients failed multiple antiepileptic drugs, including midazolam infusion and propofol but responded promptly to ketamine infusion. This is the first description of the effectiveness of ketamine as an effective third-line agent for super refractory SE associated with AHC. Increased glutamate-mediated neurotoxicity can be present in AHC, not only due to overexpression of glutamate receptors during status epilepticus but also due to unique characteristics of AHC-preferential inactivity of GABAergic interneuron and impaired action of glutamate transporters (EAAT-1). Moreover, as neuroregression is possible after SE in AHC, earlier termination of SE by using ketamine can be an effective option in this population. Further prospective, controlled studies are needed to confirm the finding of this study.
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PMID:Ketamine Infusion for Super Refractory Status Epilepticus in Alternating Hemiplegia of Childhood. 3201 45