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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

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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