Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability
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 ATP...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-02-01
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| Series: | Italian Journal of Pediatrics |
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| Online Access: | https://doi.org/10.1186/s13052-021-01194-2 |
| _version_ | 1828891148840599552 |
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| author | Piero Pavone Xena Giada Pappalardo Naira Mustafa Sung Yoon Cho Dong Kyu Jin Gemma Incorpora Raffaele Falsaperla Simona Domenica Marino Giovanni Corsello Enrico Parano Martino Ruggieri |
| author_facet | Piero Pavone Xena Giada Pappalardo Naira Mustafa Sung Yoon Cho Dong Kyu Jin Gemma Incorpora Raffaele Falsaperla Simona Domenica Marino Giovanni Corsello Enrico Parano Martino Ruggieri |
| author_sort | Piero Pavone |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T13:11:49Z |
| format | Article |
| id | doaj.art-860c8ce952474fad8d239f8abc246a64 |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-12-13T13:11:49Z |
| publishDate | 2022-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-860c8ce952474fad8d239f8abc246a642022-12-21T23:44:40ZengBMCItalian Journal of Pediatrics1824-72882022-02-0148111110.1186/s13052-021-01194-2Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variabilityPiero Pavone0Xena Giada Pappalardo1Naira Mustafa2Sung Yoon Cho3Dong Kyu Jin4Gemma Incorpora5Raffaele Falsaperla6Simona Domenica Marino7Giovanni Corsello8Enrico Parano9Martino Ruggieri10Pediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital A.U.O. “Policlinico-Vittorio Emanuele” of CataniaNational Council of Research, Institute for Research and Biomedical Innovation (IRIB), Unit of CataniaDepartment of Paediatrics, School of Clinical Medicine, University of CambridgeDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of MedicineDepartment of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of MedicinePediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital A.U.O. “Policlinico-Vittorio Emanuele” of CataniaUnit of Pediatrics and Neonatal Intensive Therapy, Department of Promotion of Maternal and Infantile and Internal Medicine Health, and Specialist Excellence “G. D’Alessandro”, University of PalermoUnit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU “Policlinico”, PO “San Marco”, University of CataniaMother and Child Department, Operative Unit of Pediatrics and Neonatal Intensive Therapy, University of PalermoNational Council of Research, Institute for Research and Biomedical Innovation (IRIB), Unit of CataniaUnit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU “Policlinico”, PO “G. Rodolico”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.https://doi.org/10.1186/s13052-021-01194-2Alternating hemiplegia of childhood (AHC)EpilepsyComorbiditiesGRIN2ACase report |
| spellingShingle | Piero Pavone Xena Giada Pappalardo Naira Mustafa Sung Yoon Cho Dong Kyu Jin Gemma Incorpora Raffaele Falsaperla Simona Domenica Marino Giovanni Corsello Enrico Parano Martino Ruggieri Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability Italian Journal of Pediatrics Alternating hemiplegia of childhood (AHC) Epilepsy Comorbidities GRIN2A Case report |
| title | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
| title_full | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
| title_fullStr | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
| title_full_unstemmed | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
| title_short | Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability |
| title_sort | alternating hemiplegia of childhood neurological comorbidities and intrafamilial variability |
| topic | Alternating hemiplegia of childhood (AHC) Epilepsy Comorbidities GRIN2A Case report |
| url | https://doi.org/10.1186/s13052-021-01194-2 |
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