An 11-Year Follow-up Study of Neonatal-Onset, Bath-Induced Alternating Hemiplegia of Childhood in Twins

Abstract

The authors previously reported on the initial manifestations in a set of female twins, who presented soon after birth with bath-induced paroxysmal events each time they were immersed in a warm water bath. These episodes progressively ceased by the age of 36 months, replaced by paroxysmal episodes of alternating hemiplegia unrelated to water immersion. By age 4 years, the twins developed the classic features of alternating hemiplegia of childhood. Clinical outcomes at the age of 11 years are now reported. Standard and video-electroencephalograms showed a large, slow background activity followed by lower amplitude waves without focal abnormalities or other abnormal findings. This represents the first report on (a) alternating hemiplegia of childhood started with bath-induced paroxysmal episodes; (b) this condition in monozygotic twins; and (c) an 11-year follow-up study in which the twins continue to experience episodes of alternating hemiplegia in the setting of baseline cognitive impairment without epileptic episodes.

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

“…Aicardi et al [14] summarized the results of 75 AHC subjects previously described in the literature, indicating clinical features and frequency: hemiplegia involving either side 75/75 (100%); episodes of double hemiplegia/quadriplegia 43/46 (93%); tonic/dystonic attacks 50/52 (96%); oculomotor abnormalities (i.e., nystagmus/gaze deviation/strabismus) 48/49 (97%); disappearance of symptoms with sleep 36/38 (94%); DD/ ID 63/64 (98%); and neurological deficits/choreoathetosis/dystonia 49/54 (90%). The same article also showed the diagnostic criteria referred [14] to as: (1) onset before 18 months of age; (2) repeated bouts of hemiplegia involving either side of the body at least in some attacks; (3) other paroxysmal disturbances including tonic/dystonic attacks, nystagmus, strabismus, dyspnea, and other autonomic phenomena occurring during hemiplegic bouts or in isolation; (4) episodes of bilateral hemiplegia or quadriplegia starting either as a generalization of a hemiplegic episode or bilateral from the start; (5) immediate disappearance of all symptoms on going to sleep, with recurrence 10 to 20 minutes after awakening in long-lasting bouts; (4) evidence of DD and neurologic abnormalities including choreoathetosis, dystonia, or ataxia. Further observations in 23 children were indicated by Sakuragawa [3] in Japan.…”

“…Alternating hemiplegia of childhood (AHC) is an uncommon neurological disorder mainly characterized by paroxysmal transient events of paresis involving either or both sides of the body, usually before the age of 18 months. [1,2] Events are often preceded by precipitating factors such as environmental stress, bathing, and psychological factors. Paroxysmal episodes may occur independently or in association with other clinical manifestations, such as autonomic dysfunction, altered awareness, and abnormal movements, such as dystonia, ataxia, and choreoathetosis.…”

“…[1][2][3][4] Some symptoms tend to occur in sequential distinctive phases and disappear with sleep. [1][2][3][4] The prevalence of AHC is 1/1,000,000 in children under the age of 16 years, but this number could be underestimated due to the variability in clinical presentation and the lack of genetic analysis in the preceding epidemiologic data. [5,6] The underlying pathophysiological mechanisms of AHC and/or the various complex co-morbidities are not completely known.…”

Alternating hemiplegia of childhood: New diagnostic options

“…The triggering factor was excitement, stress, tiredness, trauma, bright light, heat, cold or a bath. In one patient, hemiplegia could be triggered by induced crying, which was a precipitating factor in young children [19,20]. Tetraplegia, especially flaccid, was the least common plegia type, causing not only immobilization of patients but also speech problems (mainly dysarthria), swallowing problems, and occasionally respiratory problems including respiratory insufficiency in most severe cases [17].…”

Mutations in ATP1A3 cause alternating hemiplegia of childhood

“…Up till now, AHC remained without a molecular diagnosis and the current diagnostic criteria are entirely based on clinical characteristics of the syndrome. Although most cases of AHC are sporadic, familial cases with late onset, a mild phenotype, autosomal dominant inheritance, and a concordance in monozygotic twins have been reported, suggesting that AHC is caused by heterozygous dominant mutations. Therefore, the identification of the disease‐causing gene will allow for molecular the diagnosis of AHC.…”