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Breath-holding spell

MedGen UID:
1052602
Concept ID:
CN378302
Finding
HPO: HP:6000950

Definition

A benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBreath-holding spell

Conditions with this feature

Beare-Stevenson cutis gyrata syndrome
MedGen UID:
377668
Concept ID:
C1852406
Disease or Syndrome
Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).

Professional guidelines

PubMed

Öncül M, Elkıran Ö, Karakurt C, Güngör S, Maraş SA, Gözükara Bağ HG
Pediatr Neurol 2024 Jul;156:53-58. Epub 2024 Apr 13 doi: 10.1016/j.pediatrneurol.2024.04.002. PMID: 38733854
Arslan M, Karaibrahimoğlu A, Demirtaş MS
Pediatr Int 2021 Nov;63(11):1344-1350. Epub 2021 Oct 28 doi: 10.1111/ped.14685. PMID: 33682275
Gonzalez Corcia MC, Bottosso A, Loeckx I, Mascart F, Dembour G, François G
Cardiol Young 2018 Jul;28(7):922-927. Epub 2018 May 11 doi: 10.1017/S1047951118000458. PMID: 29747708

Recent clinical studies

Etiology

Öncül M, Elkıran Ö, Karakurt C, Güngör S, Maraş SA, Gözükara Bağ HG
Pediatr Neurol 2024 Jul;156:53-58. Epub 2024 Apr 13 doi: 10.1016/j.pediatrneurol.2024.04.002. PMID: 38733854
Demirtas MS, Alici N
Ital J Pediatr 2024 Jan 18;50(1):8. doi: 10.1186/s13052-023-01570-0. PMID: 38238792Free PMC Article
Arslan M, Karaibrahimoğlu A, Demirtaş MS
Pediatr Int 2021 Nov;63(11):1344-1350. Epub 2021 Oct 28 doi: 10.1111/ped.14685. PMID: 33682275
Gürbüz G, Perk P, Çokyaman T, Gürbüz ÖB
Turk J Med Sci 2019 Feb 11;49(1):230-237. doi: 10.3906/sag-1805-92. PMID: 30761881Free PMC Article
Kolkiran A, Tutar E, Atalay S, Deda G, Cin S
Acta Paediatr 2005 Sep;94(9):1227-31. doi: 10.1111/j.1651-2227.2005.tb02080.x. PMID: 16278993

Diagnosis

Ramachandran S, Alessandri A, Price J, Balasubramaniam S
Br J Haematol 2014 Jul;166(2):156. Epub 2014 May 5 doi: 10.1111/bjh.12927. PMID: 24797152
Lukkarinen H, Virtanen I, Arikka H, Arola A, Peltola M, Ekblad H
Circulation 2010 Dec 21;122(25):e637. doi: 10.1161/CIRCULATIONAHA.110.986992. PMID: 21173358
Bryant RM, Redfearn SP, Marangi D, Davenport JP, Kuntz ST, Schowengerdt KO
Pacing Clin Electrophysiol 2002 Oct;25(10):1520-3. doi: 10.1046/j.1460-9592.2002.01520.x. PMID: 12418752
Stephenson JB
Epileptic Disord 2001 Jan-Mar;3(1):3-6. PMID: 11313215
Breningstall GN
Pediatr Neurol 1996 Feb;14(2):91-7. doi: 10.1016/0887-8994(96)00006-9. PMID: 8703234

Therapy

Öncül M, Elkıran Ö, Karakurt C, Güngör S, Maraş SA, Gözükara Bağ HG
Pediatr Neurol 2024 Jul;156:53-58. Epub 2024 Apr 13 doi: 10.1016/j.pediatrneurol.2024.04.002. PMID: 38733854
Sato A, Oda Y, Asakai H
Brain Dev 2021 Feb;43(2):348-351. Epub 2020 Sep 26 doi: 10.1016/j.braindev.2020.09.004. PMID: 32988679
Gürbüz G, Perk P, Çokyaman T, Gürbüz ÖB
Turk J Med Sci 2019 Feb 11;49(1):230-237. doi: 10.3906/sag-1805-92. PMID: 30761881Free PMC Article
Gonzalez Corcia MC, Bottosso A, Loeckx I, Mascart F, Dembour G, François G
Cardiol Young 2018 Jul;28(7):922-927. Epub 2018 May 11 doi: 10.1017/S1047951118000458. PMID: 29747708
Lukkarinen H, Virtanen I, Arikka H, Arola A, Peltola M, Ekblad H
Circulation 2010 Dec 21;122(25):e637. doi: 10.1161/CIRCULATIONAHA.110.986992. PMID: 21173358

Prognosis

Steiman B, Watemberg N
Isr Med Assoc J 2015 Nov;17(11):673-7. PMID: 26757562
Kohyama J, Hasegawa T, Shimohira M, Fukumizu M, Iwakawa Y
J Child Neurol 2000 Jul;15(7):449-52. doi: 10.1177/088307380001500705. PMID: 10921515

Clinical prediction guides

Liao R, Zhou Z, Wang X, Shao H
Br J Hosp Med (Lond) 2024 Nov 30;85(11):1-15. Epub 2024 Nov 18 doi: 10.12968/hmed.2024.0431. PMID: 39618204
Demirtas MS, Alici N
Ital J Pediatr 2024 Jan 18;50(1):8. doi: 10.1186/s13052-023-01570-0. PMID: 38238792Free PMC Article
Gürbüz G, Perk P, Çokyaman T, Gürbüz ÖB
Turk J Med Sci 2019 Feb 11;49(1):230-237. doi: 10.3906/sag-1805-92. PMID: 30761881Free PMC Article
Steiman B, Watemberg N
Isr Med Assoc J 2015 Nov;17(11):673-7. PMID: 26757562
Fujisawa H, Yoshida Y, Niida Y, Hasegawa M, Yamashita J
Pediatr Neurosurg 2005 Mar-Apr;41(2):93-7. doi: 10.1159/000085163. PMID: 15942280

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