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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).
See: Condition Record
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities

Professional guidelines

PubMed

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.
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
Blake's Pouch Cysts and Differential Diagnoses in Prenatal and Postnatal MRI : A Pictorial Review.
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
Prenatal neurologic anomalies: sonographic diagnosis and treatment.
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

Relative prevalence and outcome of fetal posterior fossa abnormality.
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
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
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
Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst.
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
Taenia-tela choroidea complex and choroid plexus location help distinguish Dandy-Walker malformation and Blake pouch cysts.
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
The Role of Fetal MRI for Suspected Anomalies of the Posterior Fossa.
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

Diagnosis

Relative prevalence and outcome of fetal posterior fossa abnormality.
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
Refining the Neuroimaging Definition of the Dandy-Walker Phenotype.
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
Short- and Long-Term Outcomes of Prenatally Diagnosed Dandy-Walker Malformation, Vermian Hypoplasia, and Blake Pouch Cyst.
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
Taenia-tela choroidea complex and choroid plexus location help distinguish Dandy-Walker malformation and Blake pouch cysts.
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
Prenatal Blake pouch cyst with hydrocephalus.
Vakakmudi UB, Rangasami R, Gopinath VN
Neurol India 2016 Jul-Aug;64(4):830-1. doi: 10.4103/0028-3886.185399. PMID: 27381149

Prognosis

Relative prevalence and outcome of fetal posterior fossa abnormality.
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
The Role of Fetal MRI for Suspected Anomalies of the Posterior Fossa.
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
Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.
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
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model.
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

Relative prevalence and outcome of fetal posterior fossa abnormality.
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
Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.
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
Quantitative diagnostic advantages of three-dimensional ultrasound volume imaging for fetal posterior fossa anomalies: Preliminary establishment of a prediction model.
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
Vermian biometric parameters in the normal and abnormal fetal posterior fossa: three-dimensional sonographic study.
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

Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis.
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

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