A rare congenital malformation: caudal regression syndrome

Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae. It results from a disturbance in the fetal mesoderm in early pregnancy (less than 4 greater than sup than less th...

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Main Authors: Cherkaoui Mandour, Brahim El Mostarchid
Format: Article
Language:English
Published: The Pan African Medical Journal 2013-01-01
Series:The Pan African Medical Journal
Subjects:
Online Access: https://www.panafrican-med-journal.com/content/article/14/30/pdf/30.pdf
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author Cherkaoui Mandour
Brahim El Mostarchid
author_facet Cherkaoui Mandour
Brahim El Mostarchid
author_sort Cherkaoui Mandour
collection DOAJ
description Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae. It results from a disturbance in the fetal mesoderm in early pregnancy (less than 4 greater than sup than less than/sup greater than week of gestation). Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors but no true causative factor has been determined. Associated organ system dysfunction depends on the severity of the disease. Prenatal ultrasonographic diagnosis of this syndrome is possible at 22 weeks of gestation. We report a case of a four months old male newborn to a known diabetic mother. We present a bone reconstruction in 3D that shows a syringomyelia from D4 to D7; terminal myélocystocele (D10); agenesis of D11, D12, lumbar vertebrae, sacrum and coccyx; contiguous appearance of kidneys without prevertebral parenchymal bridge.
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spelling doaj.art-d72b9d7666f6443b99eb161d02aed7502022-12-21T19:24:24ZengThe Pan African Medical JournalThe Pan African Medical Journal1937-86881937-86882013-01-01143010.11604/pamj.2013.14.30.23642364A rare congenital malformation: caudal regression syndromeCherkaoui Mandour0Brahim El Mostarchid1 Departement Of Neurosurgery, Military Hospital Mohammed V, Rabat, Morocco Departement Of Neurosurgery, Military Hospital Mohammed V, Rabat, Morocco Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae. It results from a disturbance in the fetal mesoderm in early pregnancy (less than 4 greater than sup than less than/sup greater than week of gestation). Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors but no true causative factor has been determined. Associated organ system dysfunction depends on the severity of the disease. Prenatal ultrasonographic diagnosis of this syndrome is possible at 22 weeks of gestation. We report a case of a four months old male newborn to a known diabetic mother. We present a bone reconstruction in 3D that shows a syringomyelia from D4 to D7; terminal myélocystocele (D10); agenesis of D11, D12, lumbar vertebrae, sacrum and coccyx; contiguous appearance of kidneys without prevertebral parenchymal bridge. https://www.panafrican-med-journal.com/content/article/14/30/pdf/30.pdf caudal regression syndromecongenital malformationsyringomyeliavertebral agenesis
spellingShingle Cherkaoui Mandour
Brahim El Mostarchid
A rare congenital malformation: caudal regression syndrome
The Pan African Medical Journal
caudal regression syndrome
congenital malformation
syringomyelia
vertebral agenesis
title A rare congenital malformation: caudal regression syndrome
title_full A rare congenital malformation: caudal regression syndrome
title_fullStr A rare congenital malformation: caudal regression syndrome
title_full_unstemmed A rare congenital malformation: caudal regression syndrome
title_short A rare congenital malformation: caudal regression syndrome
title_sort rare congenital malformation caudal regression syndrome
topic caudal regression syndrome
congenital malformation
syringomyelia
vertebral agenesis
url https://www.panafrican-med-journal.com/content/article/14/30/pdf/30.pdf
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