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Blake pouch cyst

MedGen UID:
783279
Concept ID:
C3662124
Congenital Abnormality
Synonym: Blake's pouch cyst
SNOMED CT: Persistent Blake's pouch cyst (609529006)
 
HPO: HP:0033140
Monarch Initiative: MONDO:0020351
Orphanet: ORPHA98922

Definition

The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna. [from HPO]

Conditions with this feature

Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
MedGen UID:
1823982
Concept ID:
C5774209
Disease or Syndrome
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) is an autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications (summary by Rosenhahn et al., 2022).

Professional guidelines

PubMed

Chanclud J, Valence S, Perre SV, Guilbaud L, Moutard ML, Jouannic JM, Ducou Le Pointe H, Blondiaux E, Garel C
Pediatr Radiol 2023 Mar;53(3):461-469. Epub 2022 Oct 24 doi: 10.1007/s00247-022-05531-3. PMID: 36274068
Kau T, Marterer R, Kottke R, Birnbacher R, Gellen J, Nagy E, Boltshauser E
Clin Neuroradiol 2020 Sep;30(3):435-445. Epub 2020 Jan 15 doi: 10.1007/s00062-019-00871-4. PMID: 31942658
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Recent clinical studies

Etiology

Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy Chaudhary S
J Paediatr Child Health 2023 Jan;59(1):107-115. Epub 2022 Nov 1 doi: 10.1111/jpc.16254. PMID: 36318816
Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Venkatesan C, Kline-Fath B, Horn PS, Poisson KE, Hopkin R, Nagaraj UD
J Child Neurol 2021 Oct;36(12):1111-1119. Epub 2021 Nov 10 doi: 10.1177/08830738211049115. PMID: 34757866
Whitehead MT, Vezina G, Schlatterer SD, Mulkey SB, du Plessis AJ
Pediatr Radiol 2021 Jul;51(8):1457-1470. Epub 2021 Mar 30 doi: 10.1007/s00247-021-04991-3. PMID: 33783580
Mace P, Mancini J, Gorincour G, Quarello E
BJOG 2021 Jan;128(2):354-365. Epub 2020 Oct 25 doi: 10.1111/1471-0528.16530. PMID: 32966672

Diagnosis

Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Öztekin Ö, Bhattacharya D, Lucato LT, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Mankad K
AJNR Am J Neuroradiol 2022 Oct;43(10):1488-1493. Epub 2022 Sep 22 doi: 10.3174/ajnr.A7659. PMID: 36137655Free PMC Article
Venkatesan C, Kline-Fath B, Horn PS, Poisson KE, Hopkin R, Nagaraj UD
J Child Neurol 2021 Oct;36(12):1111-1119. Epub 2021 Nov 10 doi: 10.1177/08830738211049115. PMID: 34757866
Whitehead MT, Vezina G, Schlatterer SD, Mulkey SB, du Plessis AJ
Pediatr Radiol 2021 Jul;51(8):1457-1470. Epub 2021 Mar 30 doi: 10.1007/s00247-021-04991-3. PMID: 33783580
Vakakmudi UB, Rangasami R, Gopinath VN
Neurol India 2016 Jul-Aug;64(4):830-1. doi: 10.4103/0028-3886.185399. PMID: 27381149
Garel C, Fallet-Bianco C, Guibaud L
J Child Neurol 2011 Dec;26(12):1483-92. Epub 2011 Sep 27 doi: 10.1177/0883073811420148. PMID: 21954430

Prognosis

Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy Chaudhary S
J Paediatr Child Health 2023 Jan;59(1):107-115. Epub 2022 Nov 1 doi: 10.1111/jpc.16254. PMID: 36318816
Schlatterer SD, Sanapo L, du Plessis AJ, Whitehead MT, Mulkey SB
Pediatr Neurol 2021 Apr;117:10-18. Epub 2021 Jan 10 doi: 10.1016/j.pediatrneurol.2021.01.002. PMID: 33607354
Mace P, Mancini J, Gorincour G, Quarello E
BJOG 2021 Jan;128(2):354-365. Epub 2020 Oct 25 doi: 10.1111/1471-0528.16530. PMID: 32966672
Sun L, Guo C, Yao L, Zhang T, Wang J, Wang L, Liu Y, Wang K, Wang L, Wu Q
Prenat Diagn 2019 Nov;39(12):1086-1095. Epub 2019 Sep 5 doi: 10.1002/pd.5549. PMID: 31441071

Clinical prediction guides

Garg N, Kumar M, Rai P, Srivastava SS, Gupta A, Roy Chaudhary S
J Paediatr Child Health 2023 Jan;59(1):107-115. Epub 2022 Nov 1 doi: 10.1111/jpc.16254. PMID: 36318816
Mace P, Mancini J, Gorincour G, Quarello E
BJOG 2021 Jan;128(2):354-365. Epub 2020 Oct 25 doi: 10.1111/1471-0528.16530. PMID: 32966672
Sun L, Guo C, Yao L, Zhang T, Wang J, Wang L, Liu Y, Wang K, Wang L, Wu Q
Prenat Diagn 2019 Nov;39(12):1086-1095. Epub 2019 Sep 5 doi: 10.1002/pd.5549. PMID: 31441071
Bertucci E, Gindes L, Mazza V, Re C, Lerner-Geva L, Achiron R
J Ultrasound Med 2011 Oct;30(10):1403-10. doi: 10.7863/jum.2011.30.10.1403. PMID: 21968492

Recent systematic reviews

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