Your browser doesn't support javascript.
loading
Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability.
Pavone, Piero; Pappalardo, Xena Giada; Mustafa, Naira; Cho, Sung Yoon; Jin, Dong Kyu; Incorpora, Gemma; Falsaperla, Raffaele; Marino, Simona Domenica; Corsello, Giovanni; Parano, Enrico; Ruggieri, Martino.
Afiliação
  • Pavone P; Pediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital A.U.O. "Policlinico-Vittorio Emanuele" of Catania, Catania, Italy. ppavone@unict.it.
  • Pappalardo XG; National Council of Research, Institute for Research and Biomedical Innovation (IRIB), Unit of Catania, Catania, Italy.
  • Mustafa N; Department of Biomedical and Biotechnological Sciences (BIOMETEC), University of Catania, Catania, Italy.
  • Cho SY; Department of Paediatrics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Jin DK; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
  • Incorpora G; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Falsaperla R; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Marino SD; Pediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital A.U.O. "Policlinico-Vittorio Emanuele" of Catania, Catania, Italy.
  • Corsello G; Unit 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 Palermo, Palermo, Italy.
  • Parano E; Unit of Pediatrics, Neonatology and Neonatal Intensive Care, and Pediatric Emergency, AOU "Policlinico", PO "San Marco", University of Catania, Catania, Italy.
  • Ruggieri M; Mother and Child Department, Operative Unit of Pediatrics and Neonatal Intensive Therapy, University of Palermo, Palermo, Italy.
Ital J Pediatr ; 48(1): 29, 2022 Feb 17.
Article em En | MEDLINE | ID: mdl-35177115
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.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Hemiplegia Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Infant / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: ATPase Trocadora de Sódio-Potássio / Hemiplegia Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Infant / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article