What Causes Constipation?

Patient Presentation
A 4-year-old female came to clinic with a history of not passing stools for 6 days. She had been traveling and her mother said she refused to use the toilet because she was afraid she was going to fall into it. Her appetite had decreased in the past 48 hours and she complained of more generalized abdominal pain. Her mother had tried to give her a suppository, but said, “That didn’t go very well.” The past medical history was positive for intermittent constipation that normally resolved with increased fluids and prunes. The family history was non-contributory.

The pertinent physical exam showed a healthy appearing female with normal vital signs and growth parameters.
Her abdominal examination revealed a moderately distended abdomen with increased abdominal sounds and palpable stool. Her genitourinary, spine and neurological examinations were normal. The diagnosis of constipation was made. As the child and parent were reluctant to use any rectal medication, MiralaxTM at ~2 mg/kg/day was ordered for 3-4 days to produce diarrhea. Then the mother was instructed to decrease the amount to ~ 1 mg/kg/day for the next 3 days and further instructions to titrate the medication off. One week later the patient returned to clinic for upper respiratory symptoms and the mother said the Miralax had resolved the constipation.

Discussion
Constipation generally is defined as infrequent or painful defecation. Constipation can be very disturbing to the patient and family who believe the stools are too infrequent, too hard or too difficult to pass. Most children develop constipation after the child begins to associate pain (e.g. a hard bowel movement) with defecation. The child then begins to withhold the stools trying to decrease the defecation discomfort. As stool withholding continues, the rectum dilates and gradually accommodates with the normal defecation urge disappearing. Passing large hard stools infrequently reinforces the defecation pain. The cycle continues. If the cycling is severe enough, worsening stool retention and more abnormal defecation dynamics occurs. Chronic rectal distension results in both loss of rectal sensitivity, and loss of urge to defecate, which can lead to encopresis.

Treatment basics include:

  • Evacuate the colon – a clean out by enemas or oral medication
  • Stop painful defecation – by using laxatives in a maintenance regimen so patients have a soft stool daily
  • Establish regular bowel habits – through toilet sitting

A balanced diet is important and increasing dietary fiber may also help.
Medications include osmotic laxatives, stimulant laxatives, stool softeners and lubricants.
MiraLaxTM is polyethylene glycol, is an osmotic laxative, and pool research studies show that it may be superior to placebo, milk of magnesia or lactulose. It is usually used as a maintenance medication in a dose of 0.5 -1 gram/kg/day divided BID. The dose can be titrated to have one soft stool per day.

Usually primary care providers can successfully treat constipation.
A pediatric gastroenterology consultation may be considered for treatment failure, complex disease management or concerns for organic disease as the etiology.

Learning Point
The differential diagnosis of constipation includes:

  • Nonorganic (most common)
    • Situational – poor toilet training techniques (coercive, excessive, etc.), toilet phobia, school/public bathroom avoidance including travel,
      sexual abuse

    • Abnormal stool dryness and/or volume – dehydration, decreased dietary fiber, eating disorders, malnutrition or underfeeding,
    • Constitutional – colonic inertia, genetic predisposition
    • Depression or other psychiatric conditions
    • Developmental – attention or cognitive disorders
  • Organic
    • Anatomic malformations – anal abnormalities (i.e. stenosis, imperforate, anteriorly displaced)
    • Gastrointestinal or metabolic problems – hypothyroidism, hypercalcemia, hypokalemia, Crohn’s disease, cystic fibrosis, diabetes mellitus, multiple endocrine neoplasia, gluten enteropathy
    • Central nervous system – spinal cord (i.e. anomalies, trauma, and tethered cord), encephalopathy, Hirschsprung disease, intestinal neuronal dysplasias, neurofibromatosis, visceral myopathies or neuropathies
    • Abdominal musculature abnormalities – Down syndrome, gastroschisis, prune belly
    • Connective tissue disease – Ehlers-Danlos syndrome, scleroderma, systemic lupus erythematosus
    • Drugs – opiates, antacids, anticholinergics, antidepressants, antihypertensives, phenobarbital, sucralfate, sympatomimetics
    • Skin abnormalities – Group A streptococcus perianal skin infection, Lichen sclerosis et atrophicus
    • Tumor – pelvic or other abdominal tumor
    • Other – Botulism, Cow’s mild protein intolerance, lead and heavy metal toxicity, Vitamin D intoxication

Questions for Further Discussion
1. What physical examination findings should be highlighted during an evaluation for constipation?
2. What history questions should be highlighted during an evaluation for constipation?
3. What are indications for surgical consultation in a child with constipation?

Related Cases

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

Information prescriptions for patients can be found at MedlinePlus for this topic: Constipation.

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Constipation Guideline Committee of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Evaluation and treatment of constipation in infants and children: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr. 2006;43(3):e1-e13.

Burgers R, Di Lorenzo C. Diagnostic testing in constipation: is it necessary? J Pediatr Gastroenterol Nutr. 2011 Dec;53 Suppl 2:S49-51.

Gordon M, Naidoo K, Akobeng AK, Thomas AG. Osmotic and stimulant laxatives for the management of childhood constipation. Cochrane Database Syst Rev. 2012 Jul 11;7:CD009118.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What is the Differential Diagnosis of Multiple Fractures?

    Patient Presentation
    A 16-year-old female came to clinic after she had been running during volleyball practice the previous evening. She had a sudden pain in her left foot, and stopped running, but continued with practice. The pain worsened over the practice, but got better with rest.
    She denied any other trauma. Her diet was good including daily calcium intake.
    The past medical history showed 2 previous fractures. A patellar avulsion while practicing high jumping and a proximal humerus fracture when she got tangled in a net while playing tennis.
    The family history was negative for any genetic abnormalities, bone, kidney or endocrinopathies.
    The review of systems was negative.

    The pertinent physical exam showed a healthy appearing female with normal growth parameters.
    Her left foot had mild bruising around the 5th metatarsal tuberosity. She had pain with pressure in this area.
    The radiologic evaluation showed a fracture of the 5th metatarsal.
    She was placed into a pneumatic walking boot and followed by orthopaedics with resolution.
    Her primary pediatrician was concerned about the multiple fractures with relatively little trauma for two of them, and discussed this with a sports medicine specialist who suggested a DXA scan (dual-energy x-ray absorpiometry).
    The DXA scan was negative along with a Vitamin D level and so the patient had no further evaluations and was followed.

    Case Image
    Figure 102 – Oblique radiograph of the left foot showing that the apophysis that is lateral to the base of the fifth metatarsal is abnormally fragmented in appearance and as this was the site of the patient’s pain, the apophysis was felt to be fractured.

    Discussion
    Bone mass, size and strength is at its peak in early adulthood.
    Multiple factors contribute to bone health including bone mass, hormonal balance, nutrition and weight bearing physical activity.
    Fractures are basically caused by too much force to be withstood by the bone. Abnormal momentary forces commonly occur in sports injuries such as this patient.

    When a child or young adult has several fractures, particularly clinically significant fractures, the possibility of an unidentified, underlying cause should be considered.
    According to the International Society for Clinical Densitometry, clinically significant fractures that clinicians should consider for a DXA scan includes fracture of long bones in the lower extremities, vertebral compression fractures, or two or more long-bone fractures of the upper extremities.

    Learning Point
    The differential diagnosis of multiple fractures includes:

    • Child maltreatment
    • Copper deficiency – acquired, Menkes disease
    • Ehler-Danlos
    • Neurofibromatosis type 1
    • Osteogenesis imperfecta
    • Osteopenia (an expanded differential diagnosis can be found here.)
      • Paralysis
      • Prematurity
      • Medication – corticosteroids
    • Osteopetrosis
    • Rickets – Vitamin D deficiency
    • Mimics
      • Bone dysplasias – Raine syndrome, McCune Albright
      • Periosteal reactions – Vitamin A toxicity, prostaglandin, osteomyelitis, syphilis

    Questions for Further Discussion
    1. What further evaluation should be done for a patient with an abnormal DXA scan?
    2. What are indications for referral to a sports medicine specialist?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Fractures

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Jenny, C. for the Committee on Child Abuse and Neglect. Evaluating Infants and Young Children With Multiple Fractures. Pediatrics. 2006:113(3);1299-1303.

    Mughal MZ. Miscellaneous bone disorders. Endocr Dev. 2009;16:191-217.

    Egge MK, Berkowitz CD. Controversies in the evaluation of young children with fractures. Adv Pediatr. 2010;57(1):63-83.

    Online Mendelian Inheritance in Man. Neurofibromatosis, Type 1; NF1. John’s Hopkins University.
    Available from the Internet at http://www.omim.org/entry/162200 (rev. 3/18/2012, cited 1/15/2012).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Interpersonal and Communication Skills
    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • What Are the Long-Term Cognitive Effects of Galactosemia?

    Patient Presentation
    A 4-year-old female came to clinic to establish care as she had recently moved. She was known to have galactosemia that was diagnosed and treatment begun within days of birth. Overall she had done well but was receiving speech therapy and the parents related that she was a “little behind” other children in general. The parents had previously been told that she would probably need some specific help academically. She had no other medical problems.

    The pertinent physical exam showed a well-developed female with normal growth parameters, vital signs and normal examination.
    The diagnosis of a well-child with galactosemia was made. She already had an appointment with the local geneticist for continued monitoring. A referral was made for continued speech therapy as well as the local school system to start discussing her educational needs and a referral to a developmental pediatrician to better assess her overall developmental needs. The patient’s clinical course showed that developmental testing by the school and developmental pediatrician had low-normal cognition and communication problems. A developmental preschool placement was recommended to help with her communication skills in a supportive social and academic environment, and she currently likes the program.

    Discussion
    Galactosemia is a disorder caused by the galactose-1-phosphate deficiency. It is an autosomal recessive disorder resulting from an abnormality of the GALT gene on chromosome 9. There is an incidence of 1:47,000 in the white population. Treatment with lactose-free diets is the mainstay. Lactose is a disaccaride composed of glucose and galactose. Neonates if untreated usually present early with hepatotoxicity (jaundice, hepatosplenomegaly, hypoglycemia), failure to thrive, emesis, hypotonia, renal tubular dysfunction, sepsis, and cataracts. Despite adequate or good compliance with diets longer term problems continue and their cause and potential amelioration still remains elusive. Longer term problems include: cognitive, social, and communication problems. Most females also develop hypergonadotroic hypogonadism and fertility problems. Patient may also have motor problems.

    Learning Point
    Cognition studies of galactosemia patients mainly have been cross-sectional and usually show an overall decrease in cognitive function relative to those without galactosemia, with some continued decrease in cognition with aging. Areas of cognition affected include IQ, memory, and executive functioning. However, there are large interindividual differences and few longitudinal studies.

    One study in Germany that evaluated individual patients for IQ at 3 times (means 11, 13.6 and 26 years) found that individual’s IQ basically stayed the same over time. Also there were 2 clusters of individuals: those with higher IQ scores continued to have higher IQ scores and those with lower scores continued to have lower scores. The authors looked for potential mechanisms such as time to treatment, treatment compliance, etc. but were not able to identify one and postulate that potential in utero exposure may be part of the cause.

    Another study in England evaluated older patients (15-51 years) and found overall lower cognition but with large individual variability. Their data also showed educational attainment correlated with cognitive performance. A health-related quality of life study showed similar results. Galactosemic patients themselves and their parents were surveyed and compared to healthy peers. Patients 1-5 years had more communication and abdominal complaints, those 8-15 years differed in cognitive function and those 16 years and older differed in cognitive function and social function. The overall educational attainment by the galactosemic patients was significantly less than the general population.

    Questions for Further Discussion
    1. What services in the local community are availble for patients and families with metabolic disorders?
    2. What types of foods contain galactose?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Metabolic Disorders

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF. Living with classical galactosemia: health-related quality of life consequences. Pediatrics. 2004 May;113(5):e423-8.

    Doyle CM, Channon S, Orlowska D, Lee PJ. The neuropsychological profile of galactosaemia. J Inherit Metab Dis. 2010 Oct;33(5):603-9.

    Schadewaldt P, Hoffmann B, Hammen HW, Kamp G, Schweitzer-Krantz S, Wendel U. Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics. 2010 Feb;125(2):e374-81.

    Galactosemia. Online Mendelian Inheritance in Man. Available from the Internet at http://omim.org/entry/230400 (rev. 9/30/11, cited 1/9/13).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Systems Based Practice
    25. Quality patient care and assisting patients in dealing with system complexities is advocated.
    26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital

  • How Common Are Skeletal Problems in Neurofibromatosis Patients?

    Patient Presentation
    A 14-year-old female came to clinic with a history of skeletal pain that had been increasing over the past year. She complained mainly of knee and ankle pain bilaterally, but also right hip pain. She was having difficulty walking but it got better with rest. Antiinflammatory medication gave some relief and some days the pain was worse or better. The past medical history showed intermittent medical care because of relocations. The family history was positive for arthritis in older family members. One sibling had some “spots” on their skin. The review of systems was negative for night sweats, weight loss, and specific joint warmth or swelling.

    The pertinent physical exam showed a well-appearing female with normal growth parameters and vital signs. Visual acuity was 20/20 bilaterally. HEENT was positive for Lisch nodules. Heart, lungs and abdomen were normal. Skin showed multiple cafe-au-lait lesions more than 2 cm mainly over her trunk but also over the lower extremities. She had several 1-1.5 cm nodules that were soft and could be invaginated on arms/legs. She had one 1.5 cm lesion that was firm and was like “a bag of worms” on her arm. Axillary freckling was present bilaterally. Musculoskeletal examination showed normal range of motion in all extremities with no overlying warmth or swelling. She had no skin lesions overlying any joint. She had obvious thoracolumbar scoliosis with at least one curve to the left. Neurologically she had a normal examination but complained of pain in her knees when walking.

    The diagnosis of scoliosis and probable Neurofibromatosis Type 1 were made. The pain was felt to be secondary to abnormal biomechanics. The patient’s clinical course showed that she had not been evaluated for either of these problems and so consultations to orthopaedics and physical therapy were made right away. A double thoraco-lumbar curvature of the spine was diagnosed and she was scheduled for surgery because of its severity. A geneticist was consulted and confirmed NF1 and her evaluations were being completed.

    Discussion
    Neurofibromatosis Type 1 (NF1) is one of many neurocutaneous diseases. Also called phacomatosis, a review can be found at: What is the Epidemiology and Genetics of the Major Phacomatoses?

    The key elements of NF1 and 2 are:

    • Neurofibromatosis Type 1
      • Epidemiology: 1:2500-3000 – most common phacomatosis
      • Genetics: autosomal dominant with variable penetrance, associated with chromosome 17
      • Neurological: various central nervous system tumors especially neurofibromas (often benign but may act malignant because of location or size, tumors may also degenerate into a malignant variant or cause other problems such as hypothalamic problems secondary to an optic chiasm tumor ), optic nerve tumors, pheochromocytomas, mental retardation
      • Dermatological: neurofibromas, cafe-au-lait spots
      • Other clinical features: Lisch nodules of eye, other congenital anomalies may be associated including bone (rib, vertebra) and renal artery stenosis.
      • Radiological features: lesions tend to be more scattered in brain and more peripheral than tuberous sclerosis

    • Neurofibromatosis Type 2
      • Epidemiology: 1-33,000-40,000
      • Genetics: autosomal dominant with variable penetrance, associated with chromosome 22
      • Neurological: bilateral vestibular nerve schwannomas, brain meningiomas and dorsal root schwannomas
      • Dermatological: various skin changes can be seen but are less consistently associated
      • Other clinical features: eye lens opacities

    Learning Point
    Skeletal lesions in NF1 patients are often not the first abnormality that clinicians think of, but can be seen and include:

    • Generalized skeletal abnormalities
      • Smaller stature
      • Macrocephaly
      • Osteopenia
      • Osteoporosis
    • Focal skeletal abnormalities
      • Scoliosis 10-26%
      • Long bone dysplasia 1-4%, especially of the tibia
        • Bowing
        • Fractures
        • Peudoarthrosis
      • Dysplasias

    Musculoskeletal pain appears to be caused by the primary lesion or biomechanical problems occurs. Endocrine abnormalities also occur such as low 25-hydroxyvitamin D, low parathyroid hormone levels. There appears to be an inverse correlation with the number of dermal neurofibromas and the level of 25-hydroxyvitamin D.

    Questions for Further Discussion
    1. What are the diagnostic criteria for NF1?
    2. What are the neurological problems associated with NF1?
    3. What initial and scheduled evaluations are needed for patients with NF1?

    Related Cases

      Symptom/Presentation: Pain

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Evidence-based medicine information on this topic can be found at SearchingPediatrics.com, the National Guideline Clearinghouse and the Cochrane Database of Systematic Reviews.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Neurofibromatosis and Scoliosis.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 2010 Jan;12(1):1-11.

    Online Mendelian Inheritance in Man. Neurofibromatosis, Type 1; NF1. John’s Hopkins University.
    Available from the Internet at http://www.omim.org/entry/162200 (rev. 3/18/2012, cited 12/14/2012).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

  • Systems Based Practice
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author

    Donna M. D’Alessandro, MD
    Professor of Pediatrics, University of Iowa Children’s Hospital