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

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.

A novel mutation in <i>CACNA1A</i> gene in a Saudi female with episodic ataxia type 2 with no response to acetazolamide or 4-aminopyridine

“…It is important to educate the Saudi population about this fact to hopefully reduce the occurrence of rare and devastating diseases. We have previously reported several novel and rare mutations causing a wide variety of genetic neurological diseases in the Saudi community (16)(17)(18)(19)(20)(21)(22)(23)(24). This paper may be considered as an urgent call for action to address the consanguinity issue in Saudi Arabia.…”

Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the <i>SETX</i> gene in a Saudi patient

“…Premarital or preimplantation genetic screening allows a genetic diagnosis early on and can help couples who carry the same disease-causing variants to make an informed decision regarding their marriage and the consequences of their decision. The current authors have previously reported a wide variety of novel and rare genetic mutations causing a broad spectrum of diseases and clinical manifestations in the Saudi community (17)(18)(19)(20)(21)(22)(23)(24). Molecular testing of potential carriers of those mutations may be urgently needed.…”

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

“…In association with hemiplegic episodes, tonic and dystonic movements, choreoathetosis, ataxia, nystagmus, and oculomotor abnormalities are often observed. [1,2,[5][6][7][8] One of the largest AHC studies was conducted by Sweney et al [4] who reported 103 individuals (56 females and 47 males). According to these authors, [4] the most frequent and early symptoms observed in the first 3 months of life were paroxysmal eye movements in 83% and hemiplegic episodes by 6 months in 56% of patients.…”

“…Recent diagnostic criteria were dictated by Rosewich et al [18] and Mikaki et al [24] who found that most AHC individuals show a variable degree of associated disorders such as neuropsychological abnormalities, DD/ID, epileptic seizures, motor dysfunction, abnormal movements, migraine, sleep, and cardiac disturbances. [5][6][7][8] 3.3. Clinical manifestations besides the hemiplegic events 3.3.1.…”