Perianal Crohn's Disease in Infancy

Crohn's disease, primarily a disease of older children and young adults, is rare in the first year of life. At this young age, Crohn's disease usually manifests with severe diarrhea and failure to thrive or with small bowel obstruction requiring surgical intervention. The clinical course is often fulminant with rates of high morbidity and mortality (1–6). Although perianal disease has been described in this group (4,5), systemic symptoms related to small bowel and colonic inflammation usually dominate the clinical picture. The diagnosis of Crohn's disease is difficult in infants who have perianal disease with no systemic symptoms. We report three infants who had recurrent perineal lesion as the sole manifestation of Crohn's disease. CASE REPORTS From 1986 through 1998, 3 of 310 patients with Crohn's disease (1%) observed at the British Columbia's Children's Hospital had their initial symptoms in the first year of life. All three children were asymptomatic except for perianal disease and dyschezia. There was no history of systemic illness or recurrent infections. There was no family history of inflammatory bowel disease in any of the three children. Growth parameters were satisfactory in all patients. Chronic granulomatous disease was very unlikely in all patients in view of a normal results in a neutrophil nitroblue tetrazolium (oxyburst) test. Crohn's disease was confirmed by the finding of granulomas in patients 1 and 2. During a follow-up of 14 to 66 months (mean, 44 months), there were no obvious new clinical manifestations or progression of the disease. Patient 1 A 3-month-old boy had a fissure, abscess, and multiple fistulae in the perianal area. Drainage of the abscess and fistulotomy were performed at 6 months of age, but the perianal fistulae recurred. Another fistulotomy at 10 months of age failed, and the patient was referred to the gastroenterology service at 15 months of age. He had dyschezia and bloody streaking of stools but no diarrhea or abdominal pain. Examination revealed a thriving infant with perianal skin tags, fissures, and three fistula tracts. Findings in abdominal and systemic examinations were normal. Results of routine blood work, including hemoglobin, differential leukocyte count, serum albumin, and total proteins were normal. An upper gastrointestinal barium swallow with small bowel follow-through produced normal findings. At colonoscopy, there were no macroscopic lesions; however, histology of the specimens obtained in the ascending colon and rectum showed chronic inflammation and granulomata. The perianal disease initially improved with oral metronidazole and sitz bath but recurred when medication was discontinued. Because of progressive perianal disease that did not respond to metronidazole, 6-mercaptopurine (6-MP) was added when the patient was 32 months old, followed by significant improvement. The 6-MP was discontinued a year later, and the perianal disease remained well controlled with metronidazole with the patient aged 6.5 years. Patient 2 A 9-month-old boy had with symptoms of dyschezia, bloody streaking of stools, and perianal skin tags. He had had frequent anal dilatations for recurrent anal fissures and had been treated with stool softeners for constipation. At the age of 3 years, he was referred for persistent perianal lesions and stool withholding behavior. Examination revealed a thriving boy with perianal erythema, fleshy skin tags, and multiple anal fissures. Routine blood work including normal hemoglobin, differential leukocyte count, serum albumin, and total proteins showed normal levels, and the neutrophil oxyburst test result was normal. An upper gastrointestinal barium test with small bowel follow through produced normal findings. At colonoscopy, there were no macroscopic lesions, but histology showed patchy chronic inflammation and granulomata in the rectum and the ascending and transverse colon. He was treated with sitz bath, topical analgesic ointment, stool softeners, and metronidazole with significant clinical improvement. Because of frequent relapses and persistent symptoms, 6-MP was added at the age of 5.5 years. However, at the age of 6 years the patient had severe dyschezia secondary to a tight anal canal stricture. Because of persistent pain and failure of anal dilatations to resolve the pain, a sigmoid colostomy was performed. Symptoms related to defecation disappeared, but he showed only mild improvement in perianal erythema and fissures. Two years later, with the colostomy still in place, he had severe lower abdominal pain. Examination with the patient under general anesthesia revealed almost complete closure of the anus. Anal stricture dilatation led to drainage of a large amount of mucopus from the rectum, resulting in relief of symptoms. At age of 9 years, he was symptom free with a colostomy, requiring periodic dilatations to maintain anal canal patency. Patient 3 A 9-month-old boy had multiple perianal fistulae after perianal abscess. He had a fistulotomy, but the fistulae recurred, and he was referred at the age of 2 years. There was no history of abdominal pain, diarrhea, or blood in stools. Examination showed a thriving boy with four perianal fistula tracts with no active discharge. Findings in abdominal and systemic examinations were normal. Routine blood work results showed normal hemoglobin, differential leukocyte count, serum albumin and total proteins, and a neutrophil oxyburst test result was normal. At colonoscopy, there were no macroscopic lesions, but histology showed focal cryptitis and chronic inflammation in the rectum and cecum. The perianal lesions healed well with perianal hygiene. He was well at the age of 3 years but was subsequently lost to follow-up. DISCUSSION Crohn's disease is rare in infancy, and very few cases have been reported (1–6). However, in recent years, Crohn's disease is diagnosed with increasing frequency in children under the age of 10 years (7). Miller et al. (1) reported six cases of Crohn's disease in infancy and noted six additional cases in the literature. In these series, the clinical manifestations was severe diarrhea in early infancy, followed by symptoms of small bowel obstruction. Surgical resection of the affected bowel was required in most patients. Crohn's disease was diagnosed on the basis of patchy intestinal involvement and histologic examination showing transmural intestinal inflammation, although granulomata were not present (1). Seven of the 12 patients died, 4 patients had complete resolution of symptoms, and 1 patient was lost to follow-up. A similar clinical course was recently described in a premature girl who underwent bowel resection in early infancy (2). Deslandres et al. (3) reported five children with inflammatory bowel disease that appeared before the age of 2 years. One of these children had Crohn's disease in infancy, involving the esophagus, duodenum, and colon and necessitating parenteral nutrition and nasogastric feeding for failure to thrive. Mezoff et al. (4) described a male infant with Crohn's disease who had bloody diarrhea and in whom multiple complications developed, including perianal disease, pyoderma gangrenosum, enteric fistulae, and central nervous system thrombosis. In other case reports, perianal disease was one of the initial features in two infants who also had failure to thrive and severe colitis, eventually necessitating colectomy (5,6). Another report involved seven infants who had intractable diarrhea and severe nonspecific inflammatory changes in the small bowel and colon. These infants had a more fulminant clinical course with high morbidity and mortality. Although Crohn's disease was suspected, these patients did not have sufficient criteria for a firm diagnosis (8). Compared with these reports in the literature, our young patients had more subtle disease manifestations. They all had recurrent perianal lesions with no other gastrointestinal or systemic symptoms, and Crohn's disease was diagnosed by histology and colonoscopy. Initial surgical intervention for perianal disease was unsuccessful in all, but disease in two of the three children responded well to medical treatment. Recently, in a series of children with perianal Crohn's disease, colonic involvement was observed in all and anal canal stricture was noted in 50% of children with severe perianal disease (9). Similarly, all our patients had histologic evidence of colitis, and one of the three children had an anal canal stricture that necessitated colostomy. During a mean follow-up of 44 months, our patients had no clinical features of involvement of other areas of the gastrointestinal tract. This clinical course is in contrast with previous reports of Crohn's disease in infancy. However, this observation is similar to that of Markowitz et al. (10), who reported six older children with highly destructive perianal disease, five of whom had Crohn's disease limited to the perineum and anorectum after a mean follow-up of 5 years. Perianal Crohn's disease can appear as skin tags, abscesses, fissures or fistulae. Estimates of incidence of perianal lesions in children with Crohn's disease vary from 29% to 62%(10,11). Perianal lesions can be associated with conditions other than Crohn's disease. Perianal skin tags and anal fissures are seen in children with constipation and in sexually abused children. Agnarsson et al. (12) reported perianal skin tags in 5% and anal fissures in 26% of children with constipation. In a series of 310 sexually abused prepubertal children, skin tags were seen in 14% of patients, and 11% had rectal tears (13). Perianal skin tags have also been reported, rarely (up to 3%), in healthy children under 18 months of age (14). Perianal fistulae can occur in otherwise healthy children and infants secondary to perianal sepsis or abscess. In a series of 24 children with perianal fistulae, children with Crohn's disease had multiple fistulae, whereas otherwise healthy children had a simple, single fistula that responded well to surgical therapy (15). Chronic granulomatous disease with recurrent perianal abscesses and gastrointestinal tract involvement can mimic Crohn's disease and should be ruled out by neutrophil oxyburst test (16). A detailed history and clinical features can usually differentiate Crohn's disease from other conditions with perianal disease. Although the manifestations of Crohn's disease can vary, most patients have one or more of the following: abdominal pain, diarrhea, hematochezia, or poor growth. In the absence of classic features, the diagnosis of Crohn's disease can be difficult and delayed, as was seen in our patients. Colonoscopy should be considered in these cases, because colonic involvement is often present with perianal Crohn's disease. Perianal Crohn's disease can vary from mild asymptomatic disease to a severe disabling disorder. Perianal disease is usually managed by perianal hygiene and metronidazole therapy (9,11). Severe perianal disease can be resistant to treatment and immunosuppressive therapy including steroids; 6-MP and cyclosporine have been tried (10). Reports on results of surgical intervention are varied and, in general, conservative therapy is recommended (11). Fecal diversion procedures may provide a temporary benefit for these children, but long-term results are disappointing. In a series of 10 children with severe perianal disease, fecal diversion by proximal ostomy led to improvement in only 20% of the cases whereas in others, the perianal disease stayed the same or worsened (17). Anal canal stricture is a particularly difficult problem, as demonstrated by one of our patients. Fecal diversion procedures provide symptomatic relief in such cases, but the inflammatory process can continue, leading to progressive anal canal stenosis, and proctocolectomy may be necessary (18). In summary, Crohn's disease should be considered in young children who have multiple perianal fistulae or recurrence of perianal disease irrespective of their age. Colonoscopy with histology is likely to have a high diagnostic yield for Crohn's disease in these children even in the absence of obvious gastrointestinal tract involvement or systemic manifestations. Because surgical intervention in these cases may confer a worse prognosis, the management of perianal disease in these young patients should be conservative.

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