J. Paediatr. Child Health (1992) 28, 328 -330
Partial sacral agenesis with constipation: A report of one family R. J. HAROWICK, E. ONIKUL, M. OE SILVA. M. J. GLASSON and K. J. GASKIN Royal Alexandra Hospital for Children, Camperdown, NSW 2050, Australia
Abstract Seven first degree relatives in three generations of a family with partial sacral agenesis are reported. Anterior sacral meningoceles were found in five cases, four of whom had severe constipation, one with urinary voiding dysfunction, and another without constipation who had low pressure headaches and dyspareunia. The anomalad was transmitted in an autosomal dominant fashion with incomplete penetrance and variable expression. This entity should be considered in all children and adults with severe constipation from birth, a family history of constipation and/or where constipation is refractory to medical therapy.
Key words: anterior sacral meningocele; constipation; partial sacral agenesis; sacral anomalies.
Chronic constipation IS a common condition in children and in most cases is functional in origin.’ However. a history of onset soon after birth should suggest the possibility of an underlying organic disorder. The latter may be obvious at physical examination as, for example, with congenital anorectal malformations, or may only be diagnosed by specific investigation as in Hirschsprung’s disease. This report describes a family pedigree with another occult cause of constipation, namely partial sacral agenesis and anterior sacral meningocele.
FAMILY REPORT (pedigree, Fig. 1) The proband (111,ll)was constipated from birth. averaging one stool every 1-2 weeks. At 8 months a diagnosis of anal stenosis
v2
I
I
It
2
3
4
5
Fig. 1 Pedigree demonstrating partial sacral agenesis in three generations. ‘Indicates no radiological investigations have been performed. Patient 11,4 had an occull spina bifida and partial sacralization of L5,
Correspondence: Dr K. J. Gaskin. Director, James Fairfax Institute of Paediatric Clinical Nutrition. Royal Alexandra Hospital for Children, Pyrrnont Bridge Rd. Camperdown, NSW 2050, Australia. R. J. Hardwick. MB, BS, FRACP. formerly Paediatric Registrar. E. Onikul, MB. Bs, FRACR, Staff Radiologist, M, De Silva, MB, Bs, FRACR, DMRD. Head, Department of Radiology. M. J. Glasson. MB, BS,FRCS, FRACS. Head, Department 01 Surgery. K. J. Gaskin. MB, chB, FRACP, FRCP(c). Director, James Fairfax Instituteof Paediatric Clinical Nutrition. Accepted for publication 28 September 1991
was made and an anoplasty was performed with daily anal dilatations thereafter. Despite these interventions and regular laxatives, she remained chronically constipated. When first seen at The Children’s Hospital, Camperdown, at age 16 months, she appeared well, with a normal physical examination, except that her anus was deeply placed anteriorly with a narrow, tight sphincter and there was no perianal sensation to pin-prick. Her gait and neurological system were otherwise normal. A suction biopsy of the rectum revealed the presence of ganglion cells. Radiographs taken in the neonatal period because of delayed passage of meconium were reviewed and these demonstrated parital sacral agenesis. Lumbosacral spine X-rays at age 17 months showed absence of the coccyx and the lower two sacral segments. Metrizamide myelography showed a mass consistent with an anterior sacral meningocele or a teratoma with no tethering of the spinal cord. A computerized tomography (CT) scan of the pelvis confirmed the plain X-ray and myelographic findings. A micturating cystourethrogram was normal. A lumbosacral laminectomy and exploration to exclude teratoma was performed at age 20 months and demonstrated a small anterior meningocele in which the lower sacral nerve roots ended blindly. No surgical resection was undertaken. Recognition of partial sacral agenesis and an anterior sacral meningocele as a cause of this child’s constipation led to the sequential diagnosis of this anomalad in the following six relatives:
111,2 This female infant had delayed passage of meconium and a diagnosis of anal stenosis was made on the second day of life. physical examination was otherwise At 11 years of age retrospective review of plain abdominal X-rays from the neonatal period revealed partial sacral agenesis involving the left distal two sacra’ segments and absence Of the A subsequent CT Scan and myelography demonstrated a small anterior sacral meningOCele and an adjacent lipoma with no evidence of spinal cord tethering. Constipation has persisted until 16 years of age.
329
Partial sacral agenesis with constipation
11,2
This 26-year-old woman had been constipated since birth, and had developed urinary incontinence during the preceding year. No abnormalities were noted on physical examination. Pelvic X-rays revealed agenesis of the right side of the sacrum from S2, with deviation to the left. A CT scan and myelography demonstrated a small anterior sacral lipomeningocele. No surgery has been performed. She has four children, all delivered per vaginum without difficulties, except in two confinements when postnatally she experienced severe sacrococcygeal pain for 3-5 days.
The infant has remained asymptomatic during follow-up for 6 months.
11,3 The mother of 111,9
Although this woman denied a history of constipation, she had experienced headaches precipitated by sudden changes of posture to the upright position and also dyspareunia. Clinically, physical examination was normal. Sacral X-rays demonstrated minor dysplasia of only the fifth sacral segment with agenesis of the left side of the coccyx which deviated to the right. Both CT
111,5 The daughter of 11,2
This infant presented at the age of 2 weeks with infrequent stooling and associated straining from 5 days of age. There was no delay in the passage of meconium. Physical examination revealed an asymmetrical natal cleft and a palpable sacral defect (Fig. 2). The anal canal was narrow and there was some decrease in perianal sensation. Lumbosacral X-rays, ultrasound and CT scans demonstrated partial sacral agenesis and a small anterior sacral lipomeningocele with no signs of spinal cord tethering (Figs 3,4).Renal ultrasound and DMSA scans were normal; however, a micturating cystourethrogram revealed bilateral grade I1vesicoureteric reflux. Urine culture was positive and following treatment of the urinary infection she has been maintained on prophylactic antibiotics.
111.9
This newborn infant was noticed to have mild asymmetry of the natal cleft during the first week of life. She was exclusively breast fed and did not have delayed passage of meconium or subsequent constipation when assessed at 10 days of age. Sacral X-rays demonstrated absence of the coccyx and agenesis of the right side of sacrum from S3 distally, with deviation of the sacrum to the left. No anterior sacral meningocele could be demonstrated on a CT scan. Urological imaging was normal.
Fig. 2 Photograph of sacrococcygeal area of neonate (111.5) showing asymmetry of the natal cleft.
Fig. 3 Lumbosacral X-ray of neonate (111.5) demonstrating agenesis of the fifth sacral segment and coccyx and partial sacral agenesis of the third and fourth sacral segments on the left giving a sickle appearance.
Fig. 4 Transverse pelvic CT scan of pelvis of neonate (111.5) showing a hemisacrum at the bottom of picture to the right of the mid-line and an anterior sacral meningocele posterior to the rectal shadow.
R. J. Hardwick eta/.
330
and nuclear magnetic resonance (NMR) scans revealed a large anterior sacral meningocele of 5 cm diameter. A neurosurgical opinion is being sought regarding removal of the meningocele.
This elderly man had experienced no symptoms but agreed to undergo sacral X-rays. These demonstrated partial sacral agenesis involving the right lower two sacral segments and the coccyx was deviated to the left. Further imaging of the anterior sacral space and urological systems were not undertaken.
DISCUSSION This report describes the varying clinical and radiological * ~ the features of a kindred with partial sacral a g e n e ~ i s . * Of seven affected members, four presented with constipation from birth, one had headaches and dyspareunia and two were asymptomatic. In two instances where parents had been alerted to the diagnosis by the family history, the anomalad was recognized soon after birth, as both infants had asymmetry of the natal cleft and one had constipation with anal narrowing and decreased perianal sensation. Radiologically, the sacral lesions were less variable with six having a hemi-sacrum and five of the seven examined having anterior sacral meningoceles on CT scan. These findings in our kindred support an autosomal dominant mode of transmission as suggested by but emphasize the variable expressivity of the disease. In the present kindred, the major presenting symptom of the anomalad was constipation from birth. In both the index case and her cousin (lll,2),the constipation was attributed initially to a structural congenital stenosis. However, this diagnosis subsequently proved incorrect, as the anal lesion was a functional narrowing associated with the sacral nerve pathology. This sequence emphasizes the importance of excluding a sacral lesion before making a definitive diagnosis of congenital anal stenosis. Although the differentiation of these two conditions may not alter management of the constipation, the recognition of the
underlying sacral agenesis is important because of its associated complications. The latter include vesicoureteric reflux, urinary voiding dy~function,3~~ anterior sacral meningoceles and sacrococcygeal t e r a t o m a ~ . ~Moreover, -~ patients with anterior meningoceles are at risk from spontaneous rupture of the meningocele, rupture during parturition, abscess formation, ascending meningitis, and raised intracranial pressure, as in case 11,3. Patients with sacral agenesis should therefore be investigated for associated urinary tract anomalies and anterior sacral space occupying lesions. In the latter instance pelvic ultrasound, a CT scan, NMR scanning and biochemical testing for a-fetoprotein and human chorionic gonadotropin may help to differentiate teratomas from meningoceles, but surgical exploration may be required if there is doubt about the exact diagnosis. In summary, partial sacral agenesis is an unusual but important cause of constipation from birth. It should be suspected if there is an associated family history of constipation and/or abnormal physical findings including abnormal sacrococcygeal anatomy or anal narrowing and should be confirmed by sacral X-rays.
REFERENCES 1 Silverman A.. Roy C. C. In: Berger K. (ed.) Pediatric Clinical Gastroenterology, 3rd edn. C. V. Mosby, St Louis, p. 16. 2 Nour S..Kumar D., Dickson J. A. S. Anorectal malformations with sacral bony abnormalities. Arch. Dis. Childh. 1989; 64: 1618-20. 3 Smith E.D.Congenital sacral anomalies in children. Aust. NZ. J. Surg. 1959; 29: 165-76. 4 Yates V. D.,Wilroy R. S.. Whitington G. L., Simmons J. C. H. Anterior sacral defects: An autosomal dominantly inherited condition. J. Pediatr. 1983; 102: 239-42. 5 Ashcraft K. W., Holder T. M. Hereditary presacral teratoma. J. Pediatr. Surg. 1974; 9: 691 -7. 6 Kenefick J. S. Hereditary sacral agenesis associated with presacral tumours. Br. J. Surg. 1973; 60: 271-4. 7 Cohn J.. Bay-Nielsen E. Hereditary defect of the sacrum and coccyx with anterior sacral meningocele. Acta Paediatr. Scand. 1969; 58: 268-74.
Partial sacral agenesis with constipation: A report of one family R. J. HAROWICK, E. ONIKUL, M. OE SILVA. M. J. GLASSON and K. J. GASKIN Royal Alexandra Hospital for Children, Camperdown, NSW 2050, Australia
Abstract Seven first degree relatives in three generations of a family with partial sacral agenesis are reported. Anterior sacral meningoceles were found in five cases, four of whom had severe constipation, one with urinary voiding dysfunction, and another without constipation who had low pressure headaches and dyspareunia. The anomalad was transmitted in an autosomal dominant fashion with incomplete penetrance and variable expression. This entity should be considered in all children and adults with severe constipation from birth, a family history of constipation and/or where constipation is refractory to medical therapy.
Key words: anterior sacral meningocele; constipation; partial sacral agenesis; sacral anomalies.
Chronic constipation IS a common condition in children and in most cases is functional in origin.’ However. a history of onset soon after birth should suggest the possibility of an underlying organic disorder. The latter may be obvious at physical examination as, for example, with congenital anorectal malformations, or may only be diagnosed by specific investigation as in Hirschsprung’s disease. This report describes a family pedigree with another occult cause of constipation, namely partial sacral agenesis and anterior sacral meningocele.
FAMILY REPORT (pedigree, Fig. 1) The proband (111,ll)was constipated from birth. averaging one stool every 1-2 weeks. At 8 months a diagnosis of anal stenosis
v2
I
I
It
2
3
4
5
Fig. 1 Pedigree demonstrating partial sacral agenesis in three generations. ‘Indicates no radiological investigations have been performed. Patient 11,4 had an occull spina bifida and partial sacralization of L5,
Correspondence: Dr K. J. Gaskin. Director, James Fairfax Institute of Paediatric Clinical Nutrition. Royal Alexandra Hospital for Children, Pyrrnont Bridge Rd. Camperdown, NSW 2050, Australia. R. J. Hardwick. MB, BS, FRACP. formerly Paediatric Registrar. E. Onikul, MB. Bs, FRACR, Staff Radiologist, M, De Silva, MB, Bs, FRACR, DMRD. Head, Department of Radiology. M. J. Glasson. MB, BS,FRCS, FRACS. Head, Department 01 Surgery. K. J. Gaskin. MB, chB, FRACP, FRCP(c). Director, James Fairfax Instituteof Paediatric Clinical Nutrition. Accepted for publication 28 September 1991
was made and an anoplasty was performed with daily anal dilatations thereafter. Despite these interventions and regular laxatives, she remained chronically constipated. When first seen at The Children’s Hospital, Camperdown, at age 16 months, she appeared well, with a normal physical examination, except that her anus was deeply placed anteriorly with a narrow, tight sphincter and there was no perianal sensation to pin-prick. Her gait and neurological system were otherwise normal. A suction biopsy of the rectum revealed the presence of ganglion cells. Radiographs taken in the neonatal period because of delayed passage of meconium were reviewed and these demonstrated parital sacral agenesis. Lumbosacral spine X-rays at age 17 months showed absence of the coccyx and the lower two sacral segments. Metrizamide myelography showed a mass consistent with an anterior sacral meningocele or a teratoma with no tethering of the spinal cord. A computerized tomography (CT) scan of the pelvis confirmed the plain X-ray and myelographic findings. A micturating cystourethrogram was normal. A lumbosacral laminectomy and exploration to exclude teratoma was performed at age 20 months and demonstrated a small anterior meningocele in which the lower sacral nerve roots ended blindly. No surgical resection was undertaken. Recognition of partial sacral agenesis and an anterior sacral meningocele as a cause of this child’s constipation led to the sequential diagnosis of this anomalad in the following six relatives:
111,2 This female infant had delayed passage of meconium and a diagnosis of anal stenosis was made on the second day of life. physical examination was otherwise At 11 years of age retrospective review of plain abdominal X-rays from the neonatal period revealed partial sacral agenesis involving the left distal two sacra’ segments and absence Of the A subsequent CT Scan and myelography demonstrated a small anterior sacral meningOCele and an adjacent lipoma with no evidence of spinal cord tethering. Constipation has persisted until 16 years of age.
329
Partial sacral agenesis with constipation
11,2
This 26-year-old woman had been constipated since birth, and had developed urinary incontinence during the preceding year. No abnormalities were noted on physical examination. Pelvic X-rays revealed agenesis of the right side of the sacrum from S2, with deviation to the left. A CT scan and myelography demonstrated a small anterior sacral lipomeningocele. No surgery has been performed. She has four children, all delivered per vaginum without difficulties, except in two confinements when postnatally she experienced severe sacrococcygeal pain for 3-5 days.
The infant has remained asymptomatic during follow-up for 6 months.
11,3 The mother of 111,9
Although this woman denied a history of constipation, she had experienced headaches precipitated by sudden changes of posture to the upright position and also dyspareunia. Clinically, physical examination was normal. Sacral X-rays demonstrated minor dysplasia of only the fifth sacral segment with agenesis of the left side of the coccyx which deviated to the right. Both CT
111,5 The daughter of 11,2
This infant presented at the age of 2 weeks with infrequent stooling and associated straining from 5 days of age. There was no delay in the passage of meconium. Physical examination revealed an asymmetrical natal cleft and a palpable sacral defect (Fig. 2). The anal canal was narrow and there was some decrease in perianal sensation. Lumbosacral X-rays, ultrasound and CT scans demonstrated partial sacral agenesis and a small anterior sacral lipomeningocele with no signs of spinal cord tethering (Figs 3,4).Renal ultrasound and DMSA scans were normal; however, a micturating cystourethrogram revealed bilateral grade I1vesicoureteric reflux. Urine culture was positive and following treatment of the urinary infection she has been maintained on prophylactic antibiotics.
111.9
This newborn infant was noticed to have mild asymmetry of the natal cleft during the first week of life. She was exclusively breast fed and did not have delayed passage of meconium or subsequent constipation when assessed at 10 days of age. Sacral X-rays demonstrated absence of the coccyx and agenesis of the right side of sacrum from S3 distally, with deviation of the sacrum to the left. No anterior sacral meningocele could be demonstrated on a CT scan. Urological imaging was normal.
Fig. 2 Photograph of sacrococcygeal area of neonate (111.5) showing asymmetry of the natal cleft.
Fig. 3 Lumbosacral X-ray of neonate (111.5) demonstrating agenesis of the fifth sacral segment and coccyx and partial sacral agenesis of the third and fourth sacral segments on the left giving a sickle appearance.
Fig. 4 Transverse pelvic CT scan of pelvis of neonate (111.5) showing a hemisacrum at the bottom of picture to the right of the mid-line and an anterior sacral meningocele posterior to the rectal shadow.
R. J. Hardwick eta/.
330
and nuclear magnetic resonance (NMR) scans revealed a large anterior sacral meningocele of 5 cm diameter. A neurosurgical opinion is being sought regarding removal of the meningocele.
This elderly man had experienced no symptoms but agreed to undergo sacral X-rays. These demonstrated partial sacral agenesis involving the right lower two sacral segments and the coccyx was deviated to the left. Further imaging of the anterior sacral space and urological systems were not undertaken.
DISCUSSION This report describes the varying clinical and radiological * ~ the features of a kindred with partial sacral a g e n e ~ i s . * Of seven affected members, four presented with constipation from birth, one had headaches and dyspareunia and two were asymptomatic. In two instances where parents had been alerted to the diagnosis by the family history, the anomalad was recognized soon after birth, as both infants had asymmetry of the natal cleft and one had constipation with anal narrowing and decreased perianal sensation. Radiologically, the sacral lesions were less variable with six having a hemi-sacrum and five of the seven examined having anterior sacral meningoceles on CT scan. These findings in our kindred support an autosomal dominant mode of transmission as suggested by but emphasize the variable expressivity of the disease. In the present kindred, the major presenting symptom of the anomalad was constipation from birth. In both the index case and her cousin (lll,2),the constipation was attributed initially to a structural congenital stenosis. However, this diagnosis subsequently proved incorrect, as the anal lesion was a functional narrowing associated with the sacral nerve pathology. This sequence emphasizes the importance of excluding a sacral lesion before making a definitive diagnosis of congenital anal stenosis. Although the differentiation of these two conditions may not alter management of the constipation, the recognition of the
underlying sacral agenesis is important because of its associated complications. The latter include vesicoureteric reflux, urinary voiding dy~function,3~~ anterior sacral meningoceles and sacrococcygeal t e r a t o m a ~ . ~Moreover, -~ patients with anterior meningoceles are at risk from spontaneous rupture of the meningocele, rupture during parturition, abscess formation, ascending meningitis, and raised intracranial pressure, as in case 11,3. Patients with sacral agenesis should therefore be investigated for associated urinary tract anomalies and anterior sacral space occupying lesions. In the latter instance pelvic ultrasound, a CT scan, NMR scanning and biochemical testing for a-fetoprotein and human chorionic gonadotropin may help to differentiate teratomas from meningoceles, but surgical exploration may be required if there is doubt about the exact diagnosis. In summary, partial sacral agenesis is an unusual but important cause of constipation from birth. It should be suspected if there is an associated family history of constipation and/or abnormal physical findings including abnormal sacrococcygeal anatomy or anal narrowing and should be confirmed by sacral X-rays.
REFERENCES 1 Silverman A.. Roy C. C. In: Berger K. (ed.) Pediatric Clinical Gastroenterology, 3rd edn. C. V. Mosby, St Louis, p. 16. 2 Nour S..Kumar D., Dickson J. A. S. Anorectal malformations with sacral bony abnormalities. Arch. Dis. Childh. 1989; 64: 1618-20. 3 Smith E.D.Congenital sacral anomalies in children. Aust. NZ. J. Surg. 1959; 29: 165-76. 4 Yates V. D.,Wilroy R. S.. Whitington G. L., Simmons J. C. H. Anterior sacral defects: An autosomal dominantly inherited condition. J. Pediatr. 1983; 102: 239-42. 5 Ashcraft K. W., Holder T. M. Hereditary presacral teratoma. J. Pediatr. Surg. 1974; 9: 691 -7. 6 Kenefick J. S. Hereditary sacral agenesis associated with presacral tumours. Br. J. Surg. 1973; 60: 271-4. 7 Cohn J.. Bay-Nielsen E. Hereditary defect of the sacrum and coccyx with anterior sacral meningocele. Acta Paediatr. Scand. 1969; 58: 268-74.
