Polymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?
Cell proliferation
Centriole
Choroid plexus
Cilia
Journal
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350
Titre abrégé: Childs Nerv Syst
Pays: Germany
ID NLM: 8503227
Informations de publication
Date de publication:
10 2022
10 2022
Historique:
received:
05
04
2022
accepted:
11
04
2022
pubmed:
28
4
2022
medline:
4
10
2022
entrez:
27
4
2022
Statut:
ppublish
Résumé
Aventriculy is a very rare observation and is generally associated with holoprosencephaly. We report here a case of polymalformation affecting the brain, hands, and feet observed in a highly consanguineous family in Niger. A boy was born from a highly consanguineous family presenting multiple malformations (aventriculy, extreme microcephaly, polydactyly, polymicrogyria, callosal agenesis, and parietal encephalocele). To the best of our knowledge, such association has never been reported so far. We propose to name this association PAPEC (for polymicrogyria, aventriculy, polydactyly, encephalocele, and callosal agenesis). The occurrence of this disease in a highly consanguineous family suggests a genetic origin. Furthermore, we propose hypotheses that could explain pathophysiology of this defect.
Identifiants
pubmed: 35476093
doi: 10.1007/s00381-022-05529-0
pii: 10.1007/s00381-022-05529-0
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2029-2032Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Garfinkle WB (1996) Aventriculy: a new entity? AJNR Am J Neuroradiol 17:1649–1650
pubmed: 8896616
pmcid: 8338299
Sergi C, Hentze S, Sohn C, Voigtländer T, Jung C, Schmitt HP (1997) Telencephalosynapsis (synencephaly) and rhombencephalosynapsis with posterior fossa ventriculocele (‘Dandy-Walker cyst’): an unusual aberrant syngenetic complex. Brain Dev 19:426–432
pubmed: 9339873
Sener RN (1998) Aventriculi associated with holoprosencephaly. Comput Med Imaging Graph 22:345–347
pubmed: 9840665
Kumar S, Jaiswal AK, Rastogi M (2006) Aventriculi associated with holoprosencephaly. J Clin Neurosci 13:378–380
pubmed: 16546387
Ciftcioglu E, Ozyurek H, Nural MS, Kopuz C, Incesu L, Ogur G (2015) Absence of the lateral and third ventricles associated with holoprosencephaly. Anat Cell Biol 48:222–224
pubmed: 26417484
pmcid: 4582167
Kamionowska ML, Szymanska K, Klepacka T (2015) Holoprosencephaly with agenesis of the prosencephalic ventricle. Folia Neuropathol 53:387–394
Dandena A, Sisay S, Mekonnen A, Beza K (2021) Aventriculy: a rare case report. Rep Med Imaging 14:9–13
Barnard L, Durand A, Blume L, Lee L, Cameron S (2020) Aventriculi associated with holoprosencephaly in a dog. J Vet Intern Med 34:2682–2686
pubmed: 33009835
pmcid: 7694808
Lowery LA, Sive H (2005) Initial formation of zebrafish brain ventricles occurs independently of circulation and requires the nagie oko and snakehead/atp1a1a/1 gene products. Development 132:2057–2067
pubmed: 15788456
Tobin JL, Beales PL (2009) The nonmotile ciliopathies. Genet Med 11:386–402
pubmed: 19421068
O’Neill RS, Schoborg TA, Rusan NM (2018) Same but different: pleiotropy in centrosome-related microcephaly. Mol Biol Cell 29:241–246
pubmed: 29382806
pmcid: 5996963