Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
Authors
Pappalardo, Xena Giada
Mustafa, Naira
Cho, Sung Yoon
Jin, Dong Kyu
Incorpora, Gemma
Falsaperla, Raffaele
Marino, Simona Domenica
Corsello, Giovanni
Parano, Enrico
Ruggieri, Martino
Publication Date
2022-02-17Journal Title
Ital J Pediatr
ISSN
1720-8424
Publisher
Springer Science and Business Media LLC
Volume
48
Issue
1
Language
en
Type
Article
This Version
VoR
Metadata
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Pavone, P., Pappalardo, X. G., Mustafa, N., Cho, S. Y., Jin, D. K., Incorpora, G., Falsaperla, R., et al. (2022). Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.. Ital J Pediatr, 48 (1) https://doi.org/10.1186/s13052-021-01194-2
Abstract
BACKGROUND: Alternating of Childhood (AHC) is an uncommon and complex disorder characterized by age of onset before 18 months with recurrent hemiplegia of one or either sides of the body or quadriplegia. The disorder is mainly caused by mutations in ATP1A3 gene, and to a lesser extent in ATP1A2 gene. In AHC neurological co-morbidities are various and frequently reported including developmental delay, epilepsy, tonic or dystonic spells, nystagmus,autonomic manifestations with intrafamilial variability. CASE PRESENTATION: Clinical and genetic findings of a couple of twins (Family 1: Case 1 and Case 2) and a couple of siblings (Family 2: Case 3 and Case 4) coming from two different Italian families affected by AHC were deeply examined. In twins of Family 1, a pathogenic variant in ATP1A3 gene (c.2318A>G) was detected. In siblings of Family 2, the younger brother showed a novel GRIN2A variant (c.3175 T > A), while the older carried the same GRIN2A variant, and two missense mutations in SCNIB (c.632 > A) and KCNQ2 (1870 G > A) genes. Clinical manifestations of the four affected children were reported along with cases of AHC drawn from the literature. CONCLUSIONS: Hemiplegic episode is only a sign even if the most remarkable of several and various neurological comorbidities in AHC affected individuals. Molecular analysis of the families here reported showed that clinical features of AHC may be also the result of an unexpected genetic heterogeneity.
Keywords
Case Report, Neurology, Behaviour and Development, Alternating hemiplegia of childhood (AHC), Epilepsy, Comorbidities, GRIN2A, Case report
Identifiers
s13052-021-01194-2, 1194
External DOI: https://doi.org/10.1186/s13052-021-01194-2
This record's URL: https://www.repository.cam.ac.uk/handle/1810/334158
Rights
Licence:
http://creativecommons.org/licenses/by/4.0/
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