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Neonatal Currarino’s syndrome presenting as intestinal obstruction Ramnik V Patel,1,2 Gregory Shepherd,3 Hemant Kumar,3 Nitin Patwardhan3 1
Department of Paediatric Urology, University College London Hospitals NHS Foundation Trust, London, UK 2 Department of Paediatric Urology, Great Ormond Street Children Hospital NHS Trust, London, UK 3 Department of Paediatric Surgery, Leicester Royal Infirmary, Leicester, UK Correspondence to Ramnik V Patel, [email protected]
DESCRIPTION A female term infant failed to pass meconium and developed gross abdominal distension at 36 h of age. Examination showed a normally sited, normalsized anus and a non-tender but distended abdomen. She responded to rectal washouts and rectal suction biopsy showed normal ganglion cells. An abdominal X-ray showed dilated loops of bowel, a soft tissue mass in the pelvis, no air in the rectum and a scimitar-shaped sacrum with absence of the fourth and fifth sacral elements on its left side (figure 1A). A lower gastrointestinal contrast study showed anorectal stenosis and a dilated proximal rectum (figure 1B). Ultrasound of the pelvis and lumbar spine showed that the conus terminated at L3 with a heterogonous mass at about S3
suggestive of an anterior lipomyelomeningocele, a teratoma or both (figure 1C). Spinal MRI confirmed a presacral mass (figure 1D). Initial management involved regular dilations and washouts but the parents were unable to cope with it. She required a defunctioning left descending colostomy after few weeks due to distended proximal rectum and sigmoid with faecal impaction. She was referred to regional centre with neurosurgical setup for further management of presacral mass excision and anorectoplasty. The Currarino’s syndrome is an autosomal dominant disorder and a variant of caudal regression syndrome characterised by the triad of hemisacrum, anorectal malformation and presacral mass. Neonatal presentation with intestinal obstruction is rare and may be associated with
Figure 1 Plain, contrast, ultrasound and MRI showing scimitar hemisacrum, anorectal stenosis and presacral mass (arrows in MRI). This triad of malformations is also called Currarino triad.
To cite: Patel RV, Shepherd G, Kumar H, et al. BMJ Case Rep Published online: [ please include Day Month Year] doi:10.1136/ bcr-2013-200310 Patel RV, et al. BMJ Case Rep 2013. doi:10.1136/bcr-2013-200310
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Images in… Hirschsprung’s disease.1–3 It could be complete, mild or minimal depending on expressivity and requires multidisciplinary management.
Learning points
Acknowledgements The authors are grateful to Mr Brian Davies, Consultant Paediatric Surgeon and Miss Maria Cartmill, Consultant Neurosurgeon for accepting this patient at the Queens Medical Centre, Derby Road, Nottingham, NG27 2UH for further management at the regional centre of excellence. Contributors All authors have taken part in the clinical management of the case and have participated actively in the preparation, editing and finalisation of the manuscript. Competing interests None.
▸ A newborn baby with normal site and size of anus may have an anorectal malformation. ▸ A sacral X-ray is the key to the association of triad and a rectal suction biopsy should be performed to rule out associated Hirschsprung’s disease. ▸ Ultrasound may not be able to delineate small masses and MRI must be carried out to clearly delineate the anatomy and pathological lesions as the combination of neural and teratomatous elements may be present simultaneously and requires a multidisciplinary approach to management.
Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed.
REFERENCES 1 2 3
Sekaran P, Brindley N. A case of Currarino’s syndrome presenting as neonatal bowel obstruction. J Pediatr Surg 2012;47:1600–3. Samuel M, Hosie G, Holmes K. Currarino triad—diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000;35:1790–4. Baltogiannis N, Mavridis G, Soutis M, et al. Currarino triad associated with Hirschsprung’s disease. J Pediatr Surg 2003;38:1086–9.
Copyright 2013 BMJ Publishing Group. All rights reserved. For permission to reuse any of this content visit http://group.bmj.com/group/rights-licensing/permissions. BMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission. Become a Fellow of BMJ Case Reports today and you can: ▸ Submit as many cases as you like ▸ Enjoy fast sympathetic peer review and rapid publication of accepted articles ▸ Access all the published articles ▸ Re-use any of the published material for personal use and teaching without further permission For information on Institutional Fellowships contact [email protected] Visit casereports.bmj.com for more articles like this and to become a Fellow
2
Patel RV, et al. BMJ Case Rep 2013. doi:10.1136/bcr-2013-200310
Neonatal Currarino’s syndrome presenting as intestinal obstruction Ramnik V Patel,1,2 Gregory Shepherd,3 Hemant Kumar,3 Nitin Patwardhan3 1
Department of Paediatric Urology, University College London Hospitals NHS Foundation Trust, London, UK 2 Department of Paediatric Urology, Great Ormond Street Children Hospital NHS Trust, London, UK 3 Department of Paediatric Surgery, Leicester Royal Infirmary, Leicester, UK Correspondence to Ramnik V Patel, [email protected]
DESCRIPTION A female term infant failed to pass meconium and developed gross abdominal distension at 36 h of age. Examination showed a normally sited, normalsized anus and a non-tender but distended abdomen. She responded to rectal washouts and rectal suction biopsy showed normal ganglion cells. An abdominal X-ray showed dilated loops of bowel, a soft tissue mass in the pelvis, no air in the rectum and a scimitar-shaped sacrum with absence of the fourth and fifth sacral elements on its left side (figure 1A). A lower gastrointestinal contrast study showed anorectal stenosis and a dilated proximal rectum (figure 1B). Ultrasound of the pelvis and lumbar spine showed that the conus terminated at L3 with a heterogonous mass at about S3
suggestive of an anterior lipomyelomeningocele, a teratoma or both (figure 1C). Spinal MRI confirmed a presacral mass (figure 1D). Initial management involved regular dilations and washouts but the parents were unable to cope with it. She required a defunctioning left descending colostomy after few weeks due to distended proximal rectum and sigmoid with faecal impaction. She was referred to regional centre with neurosurgical setup for further management of presacral mass excision and anorectoplasty. The Currarino’s syndrome is an autosomal dominant disorder and a variant of caudal regression syndrome characterised by the triad of hemisacrum, anorectal malformation and presacral mass. Neonatal presentation with intestinal obstruction is rare and may be associated with
Figure 1 Plain, contrast, ultrasound and MRI showing scimitar hemisacrum, anorectal stenosis and presacral mass (arrows in MRI). This triad of malformations is also called Currarino triad.
To cite: Patel RV, Shepherd G, Kumar H, et al. BMJ Case Rep Published online: [ please include Day Month Year] doi:10.1136/ bcr-2013-200310 Patel RV, et al. BMJ Case Rep 2013. doi:10.1136/bcr-2013-200310
1
Images in… Hirschsprung’s disease.1–3 It could be complete, mild or minimal depending on expressivity and requires multidisciplinary management.
Learning points
Acknowledgements The authors are grateful to Mr Brian Davies, Consultant Paediatric Surgeon and Miss Maria Cartmill, Consultant Neurosurgeon for accepting this patient at the Queens Medical Centre, Derby Road, Nottingham, NG27 2UH for further management at the regional centre of excellence. Contributors All authors have taken part in the clinical management of the case and have participated actively in the preparation, editing and finalisation of the manuscript. Competing interests None.
▸ A newborn baby with normal site and size of anus may have an anorectal malformation. ▸ A sacral X-ray is the key to the association of triad and a rectal suction biopsy should be performed to rule out associated Hirschsprung’s disease. ▸ Ultrasound may not be able to delineate small masses and MRI must be carried out to clearly delineate the anatomy and pathological lesions as the combination of neural and teratomatous elements may be present simultaneously and requires a multidisciplinary approach to management.
Patient consent Obtained. Provenance and peer review Not commissioned; externally peer reviewed.
REFERENCES 1 2 3
Sekaran P, Brindley N. A case of Currarino’s syndrome presenting as neonatal bowel obstruction. J Pediatr Surg 2012;47:1600–3. Samuel M, Hosie G, Holmes K. Currarino triad—diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000;35:1790–4. Baltogiannis N, Mavridis G, Soutis M, et al. Currarino triad associated with Hirschsprung’s disease. J Pediatr Surg 2003;38:1086–9.
Copyright 2013 BMJ Publishing Group. All rights reserved. For permission to reuse any of this content visit http://group.bmj.com/group/rights-licensing/permissions. BMJ Case Report Fellows may re-use this article for personal use and teaching without any further permission. Become a Fellow of BMJ Case Reports today and you can: ▸ Submit as many cases as you like ▸ Enjoy fast sympathetic peer review and rapid publication of accepted articles ▸ Access all the published articles ▸ Re-use any of the published material for personal use and teaching without further permission For information on Institutional Fellowships contact [email protected] Visit casereports.bmj.com for more articles like this and to become a Fellow
2
Patel RV, et al. BMJ Case Rep 2013. doi:10.1136/bcr-2013-200310
