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Neuropediatrics 2022; 53(01): 069-074
DOI: 10.1055/s-0041-1739132
Resident and Fellow Section: Short Communication

Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

Ramona Cordani    *
1   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy
,
Livia Pisciotta    *
1   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy
2   Child Neuropsychiatry Unit, ASST Fatebenefratelli- Sacco, Milano, Italy
,
Maria Margherita Mancardi
3   Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy
,
Michela Stagnaro
3   Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy
,
Giulia Prato
3   Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy
,
Thea Giacomini 
1   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy
3   Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy
,
Giovanni Morana 
4   Department of Neurosciences, University of Turin, Turin, Italy
5   Neuroradiology Unit, Giannina Gaslini Institute, Genova, Italy
,
Peter Walsh
6   Department of Neurology, Children's Neuroscience Service, Princess Margaret Hospital for Children, Perth, Western Australia, Australia
,
Twinkle Ghia
6   Department of Neurology, Children's Neuroscience Service, Princess Margaret Hospital for Children, Perth, Western Australia, Australia
,
Lino Nobili
1   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy
3   Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy
,
Elisa De Grandis
1   Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy
3   Department of Clinical and Surgical Neurosciences and Rehabilitation, Child Neuropsychiatry Unit, Giannina Gaslini Institute, Genova, Italy
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Abstract

Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients.

Keywords

Alternating Hemiplegia of Childhood - TBC1D24 gene - movement disorders - epilepsy

* R.C. and L.P. contributed equally to this work.




Publikationsverlauf

Eingereicht: 08. Januar 2021

Angenommen: 15. September 2021

Artikel online veröffentlicht:
01. Dezember 2021

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