P09.15: Caudal regression syndrome: a case report

Abstract

An absent or hypoplastic nasal bone as a marker of trisomy 21 has been widely reported in both the first and second trimesters. A mid sagittal view of the fetal profile on two-dimensional (2D) ultrasound is the optimal view for assessment of the nasal bone. However, an off-axis view can result in the false impression of a nasal bone by imaging the adjacent maxilla. Use of three dimensional (3D) volume ultrasound rendered imaging can permit more accurate evaluation of the nasal bone, especially when a mid sagittal view is difficult to obtain. We present a case of absent nasal bone in the second trimester in a fetus with trisomy 21 in which 2D imaging mistakenly suggested the presence of a nasal bone, whereas 3D imaging with surface rendering resulted in the correct diagnosis of an absent nasal bone. A 31 year old Gravida 3, Para 1 woman was referred for a second trimester fetal survey at 18 weeks 3 days gestation with no prior screening. The scan was interpreted as normal with the exception of an echogenic intracardiac focus. The nasal bone was thought to be visualized by a sonographer and the interpreting physician. As part of our protocol a 3D volume of the face was also acquired and was subsequently evaluated by a second physician following completion of the exam. Surface rendered coronal views of the face suggested absence of the nasal bone. The patient elected to undergo a second trimester serum screen ('quad' screen) which resulted in a calculated risk of 1 : 653 for trisomy 21, which was similar to her age-related risk. The patient returned one week later for a follow up evaluation and at that time both 2D and 3D volume imaging confirmed the absence of a nasal bone. The patient underwent genetic amniocentesis based on this information, yielding trisomy 21. We conclude that 3D volume imaging with surface rendering in the coronal plane may be more accurate than 2D imaging alone for determining whether a nasal bone is absent. P09.15 Caudal regression syndrome: a case reportA. Soria, J. Iglesias, G. Villagomez Martinez, G. Castillo, J. Villarreal, R. Ambriz, G. Treviño Martinez Medicina Materno Fetal, Hospital Universitario Dr Jose Eleuterio Gonzalez, Monterrey N. L., MexicoCaudal regression syndrome (CRS) is a rare and sporadic disorder. This may result in various types of anorectal malformations, agenesis of spinal segments (sacral or lumbosacral). In the most severe cases, the lower limbs are fused (sirenomelia). Incidence is estimated 1 : 10000-60,000 live births; male:female ratio 2.7 : 1. Etiology and pathogenic mechanisms are poorly understood, but maternal diabetes, genetic predisposition and vascular hypoperfusion have been proposed. Case report: 25 years old woman, G3 P2 (history of macrosomic), first-degree relatives with diabetes mellitus type 2; attend to 1 th occasion antenatal control taking a course in 18 weeks; accomplishing ultrasound of routine where we observed absence of sacrum, fusion of lumbar vertebrae, bilateral talipes. Diagnosis of gestational diabetes was made. We conclude a caudal ...

Caudal Regression Syndrome/neurogenic bladder presented as recurrent urinary tract infection

“…The presence of urinary tract infection directly affected the normal functioning of bladder and genito-urinary system. 25 It has now become clear that the patient is suffering from the condition of CRS and neurogenic bladder presented by urinary tract infection.…”