PEDIATRICS Vol. 109 No. 5 May 2002, pp. 961-965
EXPERIENCE AND REASON |
Is It More Than Just Constipation?
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ABSTRACT |
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 TOP ABSTRACT INTRODUCTIONREPORT OF CASESDISCUSSIONCONCLUSIONREFERENCES |
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We report an infant presenting with constipation, whose history and physical examination initiated the investigation that led to the diagnosis of the Currarino triad in the proband and 2 other family members.
Key Words: constipation • anal stenosis • Currarino triad • presacral mass • sacral hypoplasia
Abbreviations: MRI, magnetic resonance imaging
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INTRODUCTION |
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TOPABSTRACTINTRODUCTIONREPORT OF CASESDISCUSSIONCONCLUSIONREFERENCES |
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Constipation is a very common presenting complaint in infants and young children. The most common cause is functional constipation,1 which is benign and transient. Occasionally in the young infant, however, it may be the sole symptom of entities such as cystic fibrosis, anorectal anomalies, microcolon, hypothyroidism, and Hirschsprung’s disease, among others. We report an infant (case 1) whose history and physical examination (more specifically, her rectal examination) started a cascade of investigations that led to the diagnosis of the Currarino triad in this child, her paternal half-sister (case 2), and her father (case 3).
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REPORT OF CASES |
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TOPABSTRACTINTRODUCTIONREPORT OF CASESDISCUSSIONCONCLUSIONREFERENCES |
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Case 1
C.S. was a 2-month-old white girl admitted with a history of fever with no localizing signs and symptoms. During her hospital stay, the parents gave a history of chronic constipation since birth with hard bowel movements passed with difficulty once every few days. The child had passed meconium immediately after she was born. Physical examination showed absence of anal wink, and the examiner was not able to introduce the finger when attempting to perform a rectal examination. No external masses or lesions were appreciated. Abdominal examination revealed a soft, nondistended abdomen with no masses. The infant had normal tone in her lower extremities. Studies searching for sepsis and meningitis demonstrated Escherichia coli urosepsis that responded well to treatment with parenteral antibiotics, and evidence of bilateral grade III vesicoureteral reflux. A barium enema, performed to rule out Hirschsprung’s disease, was normal, but the plain films showed absence of sacral vertebrae S4 and S5 and hypoplasia of S3 (Fig 1). Magnetic resonance imaging (MRI) of the spine showed tethering of the cord and a presacral mass consistent with a teratoma or a meningocele (Fig 2). No clinical signs of increased intracranial pressure or hydrocephalus were present. An additional history uncovered the presence of similar pattern in her half-sister (case 2) and her father (case 3). This history was disclosed by the parents only after repeated questioning about any significant family history when the findings in the proband case were uncovered.
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Case 2
B.S., a 2-year-old white girl, was the half-sister of the proband (case 1). The father reported that she had severe constipation since her first months of life. When seen at an emergency department because of this problem at 5 weeks of age, the examiner’s finger could not be introduced on rectal examination. Rectal manometry and suction biopsy performed at that time were unremarkable, but an MRI of the pelvis showed a tethered cord, an anterior sacral meningocele with a fibrolipoma, and abnormal segmentation of S3 with hypoplastic S4 and S5 (Fig 3). She underwent untethering of the cord and drainage of the anterior meningocele, and has had no neurologic problems. According to the father, the child has continued having problems with constipation despite being on chronic laxative therapy.
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Case 3
T.S. is the father of cases 1 and 2. He is a 26-year-old white man who had a history of constipation since birth and still has problems with severe constipation, significant abdominal pain, and difficulty passing stools. He currently has an average of 1 painful voluminous bowel movement every 2 weeks. Available medical records showed that he had constipation since birth and his mother dilated him digitally up till the age of 1 year. He continued to have problems with constipation and overflow incontinence despite use of laxative. At 9 years of age, he underwent a rectal biopsy which showed normal structures, and documented more specifically the presence of nerve and ganglion cells in the myenteric plexus. At that point, he was diagnosed with anal stenosis and placed on chronic laxative therapy. No imaging studies of the spine were performed. He continued, however, to have significant problems with constipation, but he has not had regular medical care because of financial constraints. He has limited contact with his father and does not know if there is any history of similar problems in other family members. We performed a plain film of the lumbosacral spine that showed a hypoplastic sacrum with sickled sacral vertebrae consistent with a scimitar sacrum (Fig 4). An MRI of the spine showed a hypoplastic sacrum and an anterior meningocele (Fig 5).
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DISCUSSION |
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TOPABSTRACTINTRODUCTIONREPORT OF CASESDISCUSSIONCONCLUSIONREFERENCES |
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Currarino triad is also known as the ASP association, a triad of anorectal malformation (anal stenosis, anal ectopia, or imperforate anus), sacral bony abnormality (crescentic bony defect, abnormal segmentation, hypoplasia), and presacral mass (anterior meningocele, teratoma, or enteric cyst or any combination of these). This unique complex of congenital caudal anomalies was first described by Kennedy in 1926 but recognized as a unique complex of anomalies by Currarino et al in 1981.2
The Currarino triad is considered to be in the spectrum of the split notochord syndrome. The defects occur presumably as a result of an abnormal separation of the neuroectoderm from the endoderm3 possibly caused by abnormal endoectodermal adhesions and notochordal defects in very early development.2,4
The incidence of this triad in the general population is unknown. Although isolated anorectal malformations as a group have an estimated incidence of 1:5000 live births5 and can be associated with diabetic embryopathy, the complete triad is relatively rare. There have been only 90 case reports describing this type of sacral defect since the first report in 1838.6 Patients have ranged in age at the time of diagnosis between 1 day to 65 years. The most common presenting symptom is constipation attributable to anal stenosis2,4 with difficulty inserting the finger on digital rectal examination. Other clinical features include a sacral defect that ranges from a slight deviation of the coccyx to asymmetric hypoplasia of lateral bodies of multiple distal segments with intact first sacral vertebra (sickled, crescent, or scimitar sacrum). The presacral mass has been histologically identified in reported cases as a meningocele, teratoma,7 enteric duplication, or a combination of these.2 Sonnino et al8 and Brem et al9 reported that sacrococcygeal teratomas of the familial type are more likely to be benign, to be presacral in 100% of cases, and to be associated with anal stenosis and sacral defects with no sex predilection. In addition, some patients might present with E coli sepsis or meningitis attributable to fecal contamination of the cerebrospinal fluid. Others might present with a urinary tract infection with vesicoureteral reflux. This was the case in our patient. Additional reported complications may involve the gastrointestinal system (imperforate anus, retrorectal abscesses), the nervous system (tethered cord, hydrocephalus), and the genitourinary system (ambiguous genitalia, hydronephrosis, vesicoureteral reflux,10 neurogenic bladder, bicornuate uterus, rectovaginal fistula, dyspareunia in adult women). The condition has a higher likelihood to be occult and to be diagnosed later in life in men.
Autosomal dominant inheritance was suggested by Ashcraft et al11 when they described 2 families with 23 affected members. Male-to-male transmission excluded X-linked inheritance.5,10 Nour et al5 described 2 families with affected first-degree relatives and noted that the segregation of anorectal anomalies and partial sacral agenesis was compatible with autosomal dominant inheritance with complete penetrance and variable expression. Analysis of affected families by Lynch et al6 and by Ross et al12 suggested variable expression and reduced penetrance. Various locations have been suggested as potential loci for the mutation accounting for this triad, the most common of which is 7q36, a locus associated with holoprosencephaly.5,13
Our 3 cases fit the clinical criteria for Currarino triad. Molecular genetic testing on this family revealed a mutation in the HLXB9 gene in all 3 members.14,15 This is specifically a 1-base pair (G) deletion located in exon 1 of the HLXB9 gene causing a frameshift mutation.
The genetic study of this family did help describe the specific gene responsible for this syndrome and provided additional valuable information related to this triad; furthermore, it confirmed the autosomal dominant nature of the disorder.
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CONCLUSION |
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TOPABSTRACTINTRODUCTIONREPORT OF CASESDISCUSSIONCONCLUSIONREFERENCES |
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These cases illustrate the importance of the family history and the rectal examination in providing the clues for the diagnosis of this triad, which can present with a very common pediatric complaint. When faced with a young infant with constipation, it is important for the pediatrician to keep in mind some congenital anomaly syndromes which, albeit rare, may be the organic cause of a nonfunctional constipation.
University of South Florida
Department of Pediatrics
All Children’s Hospital
St Petersburg, FL 33701
Birth Defects Center
University of South Florida
Department of Pediatrics
Tampa, FL 33606
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FOOTNOTES |
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Received for publication Feb 26, 2001; Accepted Oct 24, 2001.
Address correspondence to Rani S. Gereige, MD, MPH, Birth Defects Center, University of South Florida, Department of Pediatrics, 17 Davis Blvd, Ste 200, Tampa, FL 33606. E-mail: jfrias{at}med.usf.edu
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REFERENCES |
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TOPABSTRACTINTRODUCTIONREPORT OF CASESDISCUSSIONCONCLUSIONREFERENCES |
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12. Ross AJ, Ruiz-Perez V, Wang Y, et al. A Homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nature Genet.1998; 20 :358 –361[CrossRef][Medline]
13. Chiang C, Litingtung Y, Lee E, et al. Cyclopia and defective axial patterning in mice lacking Sonic Hedgehog gene function. Nature.1996; 383 :407 –413[CrossRef][Medline]
14. Vargas FR, Roessler E, Gaudenz K, et al. Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalyngeal thumb, and mirror polydactyly. Hum Genet.1998; 102 :387 –392[CrossRef][Medline]
15. Hagan DM, Ross AJ, Strachan T, et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet.2000; 66 :1504 –1515[CrossRef][Medline]
PEDIATRICS (ISSN 1098-4275). ©2002 by the American Academy of Pediatrics
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