TY - JOUR
T1 - Caudal regression syndrome
T2 - A case series of a rare congenital anomaly
AU - Kumar, Yogesh
AU - Gupta, Nishant
AU - Hooda, Kusum
AU - Sharma, Pranav
AU - Sharma, Salil
AU - Kochar, Puneet
AU - Hayashi, Daichi
N1 - Publisher Copyright:
© Pol J Radiol.
PY - 2017
Y1 - 2017
N2 - Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI. In this case series, we report four cases of caudal regression syndrome in different age groups including prenatal, infant and adult. We are presenting multimodal imaging findings of 4 cases of caudal regression syndrome in 4 different age groups including fetus, infant, early childhood and adult. The pathogenesis, associated risk factors, complications, treatment options and prognosis of caudal regression syndrome are discussed as well. Caudal regression syndrome is a rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending spinal cord. Ultrasound and fetal MRI can be used to make a prenatal diagnosis, while MRI is the imaging modality of choice in adults. Early detection and prompt treatment is very important to decrease the risk of complications, and thus, to improve the prognosis.
AB - Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI. In this case series, we report four cases of caudal regression syndrome in different age groups including prenatal, infant and adult. We are presenting multimodal imaging findings of 4 cases of caudal regression syndrome in 4 different age groups including fetus, infant, early childhood and adult. The pathogenesis, associated risk factors, complications, treatment options and prognosis of caudal regression syndrome are discussed as well. Caudal regression syndrome is a rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending spinal cord. Ultrasound and fetal MRI can be used to make a prenatal diagnosis, while MRI is the imaging modality of choice in adults. Early detection and prompt treatment is very important to decrease the risk of complications, and thus, to improve the prognosis.
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U2 - 10.12659/PJR.900971
DO - 10.12659/PJR.900971
M3 - Article
AN - SCOPUS:85018471649
SN - 1733-134X
VL - 82
SP - 188
EP - 192
JO - Polish Journal of Radiology
JF - Polish Journal of Radiology
ER -