Osteogenesis Imperfecta and Constipation: A Case Report

Marwa Abu El Haija^*

Pediatrics, PGY-1, University of Texas Medical Branch-Galveston, Texas, USA

*Corresponding Author:

Marwa Abu El Haija
Pediatrics, PGY-1
University of Texas Medical Branch-Galveston, Texas, USA
E-mail: maabuelh@utmb.edu

Received date: January 19, 2013; Accepted date: February 16, 2013; Published date: February 18, 2013

Citation: El Haija MA (2013) Osteogenesis Imperfecta and Constipation: A Case Report. J Gastroint Dig Syst S3:003. doi: 10.4172/2161-069X.S3-003

Copyright: © 2013 El Haija MA. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract

Osteogenesis imperfecta (OI) is a heterogeneous group of heritable group of disorders in which the amount of type-1 collagen is decreased or the type 1 collagen is abnormal . 90% of cases are due to autosomal dominant mutations, while the remaining 10% are due to autosomal recessive mutations or of unknown cause. Type III was found to be associated with chronic gastrointestinal (GI) problems including constipation. There are two studies that showed that children and adults who have OI Type III are more likely to have constipation and complaints of abdominal pain, constipation was contributed to pelvic deformities in those reports. We present a case of an 18 year- old female with chronic constipation and that was found to have Hirschsprung’s disease.

Introduction

Osteogenesis imperfecta (OI) is a heterogeneous group of heritable group of disorders in which the amount of type-1 collagen is decreased or the type 1 collagen is abnormal [1,2]. 90% of cases are due to autosomal dominant mutations, while the remaining 10% are due to autosomal recessive mutations or of unknown cause [3]. Type III was found to be associated with chronic gastrointestinal (GI) problems including constipation. There are two studies that showed that children and adults who have OI Type III are more likely to have constipation and complaints of abdominal pain [1,4], constipation was contributed to pelvic deformities in those reports. We present a case of an 18 year- old female with chronic constipation and that was found to have Hirschsprung’s disease.

Case Report

This is an 18 year old female who has history of OI type III and chronic constipation since birth. She presented with a picture of intestinal obstruction complaining of non-bloody, non-bilious vomiting and non bloody diarrhea that started same day of admission. Lately she has been complaining of 3 week history of abdominal pain as well as an incidental mass in the right side of her abdomen.

Her parents mentioned that her chronic constipation was contributed to her immobility and some degree of dehydration as this would be a common cause of constipation in OI patients. Hence her management focused on symptomatic relief by Polyethylene Glycol 3350 since birth.

Her constipation was not well controlled despite her taking her osmotic laxative Polyethylene Glycol 3350 on a regular basis. By the time she presented to us, she had obstipation for 3 weeks prior to admission. She also complained of inability to pass stools and had diffuse abdominal pain. Her mother felt a mass in the Right Lower Quadrant (RLQ) when she tried to message her abdomen. She was diagnosed as a case of stool impaction but managed with enemas and laxatives. She was admitted to another hospital for one week for those symptoms, but neither the constipation nor the pain was relieved. She was discharged home on stool softeners mainly Polyethylene Glycol 3350. She came to our hospital with the picture of obstruction described above.

She was admitted to the pediatric inpatient floor. On exam she was in distress and pain, she had short stature and abnormal bowing of bones in the upper and lower extremities. The only other significant finding on her exam was the abdominal exam; she had absent bowel sounds, moderate tenderness on the RLQ and a mass measuring 13×6 cm on exam.

Pediatric surgery was consulted, she was made nil per os (NPO), a nasogastric tube was placed. Her labs urine analysis, urine cultures, urine pregnancy, stool culture were all within normal limits, her complete blood count showed mild leukocytosis with a left shift.

Computed Tomography (CT) of abdomen was positive for a large fecal mass, measuring up to 10.2 cm in diameter and 13 cm in length, present at the recto-sigmoid junction. The rectum and sigmoid showed concentric mucosal thickening, mild hyperemia and engorgement of the mesenteric vessels. The fecal mass displaced the uterus and bladder toward the left and compressed the Inferior Vena Cava. The remainder of the colon was also filled with stool, but without mucosal thickening. The fecal filled colon occupied most of the anterior abdomen.

Fecal disimpaction was performed with a biopsy from the rectum that showed absence of ganglionic cells suggesting and confirming the diagnoses of hirschsprung’s disease. She was then managed as a case of Hirschsprung’s disease by our pediatric surgeons.

Discussion

Constipation in Osteogenesis Imperfecta type III is common; reasons suggested by literature are immobility, dehydration, inadequate fibers in diet and possibly due to pelvic deformity. We have diagnosed a case of OI type III with Hirschsprung’s disease. To our knowledge this is the first reported case of Hirschsprung’s disease in OI patients. We hope that this case will increase awareness among care providers regarding this rare entity.

References

1.  Lee JH, Gamble JG, Moore R, Rinsky LA (1995) Gastrointestinal Problems in Patients Who Have Type-Ill Osteogenesis Imperfecta. J Bone and Joint Surg 77: 1352-1356.
2. Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. The Lancet 363: 1377-1385.
3. van Dijk FS, Cobben JM, Maugeri A, Nikkels PG, van Rijn RR, et al. (2012) Osteogenesis imperfecta: clinical and genetic heterogeneity. Ned Tijdschr Geneeskd 156: A4585.
4. Violas P, Fassier F, Hamdy R, Duhaime M, Glorieux FH (2002) Acetabular protrusion in osteogenesis imperfecta. J Pediatr Orthop 22: 622-625.