دورية أكاديمية
أعرض في EDS

Meckel-Gruber syndrome together with Dandy-Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage.

التفاصيل البيبلوغرافية
العنوان: Meckel-Gruber syndrome together with Dandy-Walker malformation: an atypical case report of a 2nd recurrence in a consanguine marriage.
المؤلفون: Alsamal M; College of Medicine, Sulaiman Al Rajhi University, P.O. Box 777, Bukaryiah, 51941, Saudi Arabia. mhdsmel@gmail.com.; Dr. Sulaiman Al Habib Medical Group, Al Qassim, Saudi Arabia. mhdsmel@gmail.com., Zitoun OA; College of Medicine, Sulaiman Al Rajhi University, P.O. Box 777, Bukaryiah, 51941, Saudi Arabia.; School of Public Health Sciences, University of Waterloo, Waterloo, ON, Canada., Abdulghani EA; Department of Pediatrics, Abdul Rahman Al-Mishari Hospital, Riyadh, Saudi Arabia., Sula I; College of Medical Applied Sciences, Sulaiman Al Rajhi University, P.O. Box 777, Bukaryiah, 51941, Saudi Arabia.
المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jan; Vol. 40 (1), pp. 257-261. Date of Electronic Publication: 2023 Aug 02.
نوع المنشور: Case Reports; Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Berlin : Springer International, c1985-
مواضيع طبية MeSH: Dandy-Walker Syndrome*/complications , Dandy-Walker Syndrome*/diagnostic imaging , Polycystic Kidney Diseases*/complications , Polycystic Kidney Diseases*/diagnostic imaging, Pregnancy ; Female ; Humans ; Infant, Newborn ; Encephalocele/complications ; Encephalocele/diagnostic imaging ; Syndrome ; Marriage ; Ultrasonography, Prenatal
مستخلص: Meckel-Gruber syndrome is a lethal disorder characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In most cases, it is identified and terminated antenatally. In this report, the authors present a case of Meckel-Gruber syndrome together with Dandy-Walker malformation. A pregnant woman referred at the 28th week of gestation with an abnormal ultrasound scan showing posterior encephalocele and bilaterally enlarged kidneys. Further imaging also indicated communication between the 4th ventricle and posterior cerebellar cerebrospinal fluid space, after which the fetus was diagnosed with Meckel-Gruber syndrome and Dandy-Walker malformation. Pregnancy termination was refused by the parents and the offspring was prematurely born to be the 2nd recurrence of Meckel-Gruber syndrome in this consanguine family. Remarkably, at the 3 different pregnancies, ultrasound was inconclusive before the 7th month of gestation. Though up to date Meckel-Gruber syndrome is ultimately lethal, the lifespan of affected newborns varied greatly. We suggest developing a severity classification to estimate life expectancy in unterminated cases.
(© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
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فهرسة مساهمة: Keywords: Congenital neurologic disorders; Dandy–Walker; Encephalocele; Meckel–Gruber; Pediatric
SCR Disease Name: Meckel syndrome type 1; Dandy Walker cyst
تواريخ الأحداث: Date Created: 20230802 Date Completed: 20240103 Latest Revision: 20240103
رمز التحديث: 20240103
DOI: 10.1007/s00381-023-06104-x
PMID: 37530877
قاعدة البيانات: MEDLINE
الوصف
تدمد:1433-0350
DOI:10.1007/s00381-023-06104-x