Table of Contents

HK J Paediatr (New Series)
Vol 26. No. 4, 2021

HK J Paediatr (New Series) 2021;26:227-231

Case Report

Coexistence of Coffin-Siris Syndrome and Stercoral Colitis

iS Kara, U Koc


Coffin-Siris syndrome is a rare syndrome diagnosed by clinical features such as mental retardation, growth retardation, absence or hypoplasia of the fifth distal phalanx, different facial features and supported by genetic testing. Stercoral colitis is an inflammatory colitis, which is usually caused by an increase in intraluminal pressure in stool material stuck in colon segments, which is rarely seen in patients with chronic constipation and may result in perforation, shock and death. Our 11-year-old male patient was brought to the emergency department with the complaint of inability to walk and the patient was diagnosed with stercoral colitis with appropriate evaluation. This is the first case in the literature in which coexistence of Coffin-Siris syndrome and Stercoral colitis were seen.

Keyword : Coffin-Siris syndrome; Paediatrics; Stercoral colitis


Coffin-Siris syndrome (CSS) is a condition characterised by the aplasia or hypoplasia of the fifth distal phalanx or nail, developmental or cognitive delay, varying facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair.1,2 It presents with congenital anomalies including malformations of the heart, gastrointestinal, genitourinary and/or central nervous systems.1,2 Nutritional difficulties, slow growth, ophthalmological abnormalities, and impaired hearing can also be seen.1,2

Stercoral colitis (SC) is an inflammatory colitis that occurs due to increased intraluminal pressure caused by faecal material impacted in colon segments.3 The most important complication of SC is colon perforation, and the mortality rate varies between 32 and 57%.3-6

In most patients with chronic constipation, stool becomes harder due to physical inactivity, making it even more difficult to pass through the intestinal system, and thus creating a vicious cycle. This condition is usually seen in the elderly. SC diagnosis may be delayed in patients with neurological and psychological problems.7-9 Since clinical evidence in SC is not clear, imaging-based diagnosis is required. Late diagnosis of SC can lead to serious complications and even mortality.3,4

SC is infrequently seen in young adults and even rarer among children. In this paper, we present a case of a child having the coexistence of CSS and SC for the first time in the literature.

The Case

An 11-year-old male patient previously diagnosed with CSS in another health center presented to our clinic with the complaint of not being able to push his feet down and walk. In addition to tonsil hypertrophy and hyperemia, he had coarse facial features characterised by thick eyebrows, marked eyelashes, flat nose bridge, short nose, and thick lips. He also presented with small nails on the fifth fingers and toes, hypertrichosis, low anterior hairline, sparse scalp hair, and low height and weight percentiles (Figure 1). Considering the indications of mental retardation and complaints of frequent constipation, the sweat test was undertaken with the suspicion of cystic fibrosis, but the findings and thyroid hormones were normal. The patient had scarred skin on his feet due to frequent rubbing of hands and feet against each other. It was not possible to perform an abdominal examination since he did not allow anyone to touch his abdomen. Considering that he was not able to push his feet down, the orthopaedic clinic was consulted to evaluate the joint graphy in terms of the presence of arthritis or a fracture. There was no indication of orthopaedic emergency, but the white blood cell count was high (20 x 103/mm3). Magnetic resonance imaging of the brain revealed two arachnoid cysts. The patient was hydrated and started on antibiotics but continued to exhibit agitation and agony, and he was unable to stand up. An abdominal ultrasonography was attempted, but the findings were not adequate due to the constant agitation. Due to the dilatation of intestines and faecal impaction at plain abdominal radiograph (Figure 2), an abdominal tomography was performed and revealed thickening of the colonic wall with large volume of feces findings compatible with SC (Figure 3). Once the feces impaction was relieved, the patient's complaints were reduced. He was started on an appropriate diet and was discharged in a few days after full recovery.

Figure 1 An 11-year-old male patient previously diagnosed with Coffin-Siris syndrome had coarse facial features characterised by thick eyebrows, marked eyelashes, flat nose bridge, short nose, thick lips, small nails on the fifth fingers and toes, hypertrichosis, low anterior hairline, sparse scalp hair.


CSS is a congenital anomaly characterised by shortness of the fifth distal phalanx (65%) or aplasia or hypoplasia of nail (80%), varying degrees of developmental or cognitive delay, different facial features, hypotonia, hirsutism/hypertrichosis (95%), sparse scalp hair (68%), dental anomalies (96%), intrauterine growth retardation (67%), craniofacial anomalies, short stature (68%), spinal anomalies (66%), congenital heart disease (45%), coarse facial appearance, bushy eyebrows, and thick lips. Nutritional difficulties, slow growth, ophthalmological abnormalities, and hearing impairment can also be seen in patients with CSS.1,2,10 The diagnosis of CSS is most commonly based on clinical features, and genetic assessment has a complementary role.11,12

Figure 2 A plain X-ray studies of the abdomen revealed the dilatation of intestines and faecal impaction (arrow).

Figure 3 Abdominal tomography revealed thickening of the colonic wall (thin arrow) with large volume of feces (thick arrows) findings compatible with stercoral colitis.

Our paediatric patient presented with coarse facial features, bushy eyebrows and thick lips, short fifth distal fingers, hypoplasic nails, and developmental and cognitive retardation. Hirsutism/hypertrichosis, sparse scalp hair, dental anomalies, and short stature were other clinically significant indications. He did not have a congenital heart disease, but his brain magnetic resonance image revealed two small arachnoid cysts. His clinical findings were consistent with the diagnosis of CSS. His genetic analysis had been performed 10 years earlier and the diagnosis had been confirmed. Since the patient continuously rubbed his feet against each other, there were scarred tissues and new lesions on the contact points.

The development of faecaloma or stercoroma due to the build up and impaction of dry feces causes colonic distention and applies pressure on the wall mucosa, reducing blood flow to the area and eventually leading to ischemia. If the pressure on the intestinal wall continues, necrosis or perforation develops,7,8 which, if overlooked or untreated, may result in shock and death.9,13,14

SC has similar prevalence in both sexes and is seen at an average age of 59.8 Almost all patients present with conditions and factors implicated in constipation, such as hypothyroidism, diabetes, cognitive disorders, and the use of anticholinergic, narcotic, antacid and tricyclic antidepressants.13,14 Eighty-one percent of the SC cases have the complaint of constipation,4,12 but diarrhea is rarely associated.8,14

Our patient was mentally retarded and had a previous diagnosis of CSS. He was not taking any medication and he was in constant motion. Since he was not able to explain the reason for his agony, he continuously cried and he was not able to stand on his feet. He also did not allow us to touch his abdomen.

The three most common localisations of stercoral ulceration are the anterior wall of the rectum, the antimesenteric border of the rectosigmoid juncture, and the apex of the sigmoid colon.14,15 SC and stercoral ulcers are most frequently seen in the sigmoid colon4,14 since it is the narrowest part of the colon with the lowest blood stream, and feces is also the driest in this area.4 Our patient was found to have 73.3 mm dilatation of colon involving the rectosigmoid region and his feces were impacted.

Direct abdominal radiography can show faecal loading or calcified faecaloma. Direct graphy of our case revealed markedly dilated intestinal lumen. Abdominal CT facilitates the diagnosis and treatment. The CT findings of SC include build up of feces in the sigmoid colon, pericolonic stranding, thick mucosa or discontinuous areas of of colonic mucosa (perfusion defect), thickening of the colonic wall of more than 3 mm, and proximal colon expansion.7-9,16 The current patient had proximal colon expansion, thickening of the colonic wall of more than 3 mm, and feces accumulation in the colon.

In SC cases, abnormal gas, free fluid, and intense mucosal perfusion suggest perforation and is associated with increased mortality.9,14,17 There was no evidence of perforation in our patient. Fifty-two percent of the patients with non-perforated SC are successfully treated with a bowel regimen.7 During the follow-up period of the current case, we observed spontaneous faecal discharge and adjusted the patient's diet; therefore, there was no need for surgery.

In the literature, to date, only four paediatric cases of SC have been reported; a two-year-old child due to misuse of ibuprofen,18 an incidentally diagnosed case presenting with a chronic cough,19 a 17-year-old girl with an eating disorder,20 and an 11-year-old with stercoral perforation associated with bezoar.21 This is the first case report in the literature presenting the coexistence of a very rare CSS and an even rarer SC in a paediatric patient. In clinical practice, we encounter mentally retarded patients with varying complaints and appropriate patient management is of utmost importance in these cases. For the current patient, the careful attention of the radiology specialist concerning the walking difficulty complaint possibly saved the patient's life by preventing the development of a future perforation through the immediate initiation of a laxative diet.


This is the first case of the coexistence of CSS and SC reported in the literature. In patients with mental retardation, chronic constipation, distention, and abdominal sensitivity despite the lack of a voiced abdominal complaint due communication difficulties, the possibility of SC should be considered, and these patients should be managed accordingly.

Informed Consent

Informed consent was obtained from the patient's parents.

Conflict of Interest

No conflict of interest was declared by the authors.

Financial Disclosure

The authors declared that this study has received no financial support.


1. Schrier Vergano S, Santen G, Wieczorek D, Wollnik B, Masumoto N, Deardorff M. Coffin-Siris Syndrome. 2013 Apr 4 [Updated 2018 Feb 8]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from:

2. Vals MA, Õiglane-Shlik E, Nõukas M, et al. Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene. Eur J Hum Genet 2014;22:1327-9.

3. Serpell JW, Nicholls RJ. Stercoral perforation of the colon. Br J Surg 1990;77:1325-9.

4. Maurer CA, Renzulli P, Mazzucchelli L, Egger B, Seiler CA, Buchler MW. Use of accurate diagnostic criteria may increase incidence of stercoral perforation of the colon. Dis Colon Rectum 2000;43:991-8.

5. Bedel C, Koç U. A rare cause in the differential diagnosis of abdominal pain: stercoral colitis. J Clin Anal Med 2018;9:245-7.

6. Bhatt VR, Murukutla S, DiPoce J, et al. Perforation in a patient with stercoral colitis and diverticulosis: who did it? J Community Hosp Intern Med Perspect 2014;4:10.3402/jchimp.v4.22898.

7. Wu CH, Huang CC, Wang LJ, et al. Value of CT in the discrimination of fatal from non-fatal stercoral colitis. Korean J Radiol 2012;13:283-9.

8. Wu CH, Wang LJ, Wong YC, et al. Necrotic stercoral colitis: importance of computed tomography findings. World J Gastroenterol 2011;17:379-84.

9. Heffernan C, Pachter HL, Megibow AJ, Macari M. Stercoral colitis leading to fatal peritonitis: CT findings. Am J Roentgenol 2005;184:1189-93.

10. Vergano SS, Deardorff MA. Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014;166C:252-6.

11. Schrier SA, Bodurtha JN, Burton B, et al. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet 2012;158A:1865-76.

12. Nemani L, Barik R, Patnaik AN, Mishra RC, Rao AM, Kapur P. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: a case report with review of literature. Ann Pediatr Cardiol 2014;7:221-6.

13. Falidas E, Mathioulakis S, Vlachos K, Archontovasilis F, Villias C. Stercoral perforation of the sigmoid colon. A case report and brief review of the literature. G Chir 2011;32:368-71.

14. Kanwal D, Attia KME, Fam MNA, et al. Stercoral perforation of the rectum with faecal peritonitis and pneumatosis coli: A case Report. J Radiol Case Rep 2017;31:1-6.

15. Hsiao TF, Chou YH. Stercoral perforation of colon: a rare but important mimicker of acute appendicitis. Am J Emerg Med 2010;28:112.e1-2.

16. Canders CP, Shing R, Rouhani A. Stercoral colitis in two young psychiatric patients presenting with abdominal pain. J Emerg Med 2015;49:99-103.

17. Chakravartty S, Chang A, Nunoo-Mensah J. A systematic review of stercoral perforation. Colorectal Dis 2013;15:930-5.

18. Al Omran Y, Al Hindi S, Alarayedh S, Hawash A. Stercoral perforation in a child: a rare complication of NSAID use. BMJ Case Rep 2014;bcr2014203652.

19. Caillet A, Steiner M, Sawaya D, Nowicki M. Stercoral colitis with silent perforation in a child. J Clin Gastroenterol 2016;50:799-800.

20. McHugh S, Todkari N, Moloney T, Leahy A. Stercoral perforation in a 17-year old. Ir J Med Sci 2011;180:581-2.

21. Rutkoski JD,Gittes GK. Bezoar-related stercoral perforation in an 11-year old child: Has anyone seen my other sock? JPS Case Rep 2015;3:219-22.


This web site is sponsored by Johnson & Johnson (HK) Ltd.
©2022 Hong Kong Journal of Paediatrics. All rights reserved. Developed and maintained by Medcom Ltd.