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Abdominal Pain

Patients with mitochondrial disease are at risk for having abdominal pain for several reasons. Dysmotility can occur at any level of the gut resulting in distention, nausea and vomiting, reflux, among other symptoms. Pseudo-obstruction can create a life- threatening situation characterized by severe abdominal pain and vomiting; a mechanical obstruction is not identified (Chang, 2004). Viral illnesses also slow the gut and weeks may pass before gut function returns to baseline. Patients with prolonged gut dysmotility are at risk for developing bacterial overgrowth.

Disturbed colonic motility can be associated with infrequent stools (days or weeks without a stool), alternating hard stools and diarrhea, or incomplete emptying (i.e., when some but not all stool is passed). Some patients have difficulty passing even soft stools. On occasion stool volumes are very large (and can "plug the toilet") which contributes to the difficulty in passing. See CONSTIPATION.

Gut dysmotility likely occurs at least in part because of autonomic nervous dysfunction (Chinnery, 2001; Zelnik, 1996), although gastroparesis is also described in the setting of lactic acidemia (Chinnery, 2001). Similarly, bladder dysfunction can occur as well with pain caused by urinary retention and an overfull bladder. If retention is a chronic issue, urinary tract infections and/or vesico-ureteral reflux are potential complications. When the child is unwell and not urinating well, the decreased urine output may not be due to underhydration but to urinary retention. See RENAL/BLADDER.

Migraine and its abdominal equivalent both occur in patients with energy disorders. Trigger factors include excessive activity and fatigue, dehydration or underhydration, and inadequate calorie intake. See HEADACHES.

The muscles of the abdominal or chest wall can be a site of pain. This is probably a diagnosis of exclusion.

Pediatric pancreatitis is relatively rare. If a more common cause cannot be identified in a patient with mitochondrial disease, the possibility of medication-induced pancreatitis should be considered (Robertson, 2000). Its mitochondrial etiology may remain undetermined and could be the result of dysfunction within the organ (Finsterer, 2007).

Various medications are associated with pharmacological disruption of mitochondrial metabolism. Recurrent abdominal pain may occur in the setting of mitochondrial disease, particularly when there are a number of medications involved (Debray, 2006).

Mitochondrial Differential Diagnosis

1. GI causes:

a. Gut dysmotility

i. Gastroesophageal reflux +/- esophagitis

ii. Gastroparesis with delayed gastric emptying

iii. Intestinal dysmotility

iv. Constipation

b. Bacterial overgrowth

c. Excessive gas

2. Renal/bladder causes:

a. Bladder dysfunction:

i. Urinary retention

b. Urinary tract infection (cystitis, pyelonephritis)

3. Neurologic causes:

a. Migraine or abdominal migraine

4. Abdominal wall (muscle) pain

5. Pancreatitis

Assessment and Recommendations

1. Considerations:

a. Consider non-mitochondrial causes of abdominal pain

b. Determine what symptoms are associated with the abdominal pain and whether or not there are any trigger factors.


1. Supports for living with chronic pain include a psychologist or counselor,

pacing one's lifestyle, and establishing priorities for quality of life.

2. Strategies for living with chronic pain include physical therapy, biofeedback,

acupuncture, massage, physical therapy, and relaxation techniques.

2. GI causes:

a. Assess for reflux and delayed gastric emptying. Does the patient have post-prandial pain? Does the patient graze (perhaps suggesting that the patient can't tolerate easting big meals) or is s/he a meal-eater?

b. Assess for colonic dysmotility. What is the child's bowel pattern - Irregular? Infrequent? Texture - hard stools and/or diarrhea, normally soft? Large volume? Lots of gas?


1. Encourage small frequent feedings of low-fat, low-fiber meals.

2. Liquids may be better tolerated than solids.

3. Avoid triggers that may exacerbate GI symptoms, e.g., viral infection, hyperglycemia, migraine headaches, cyclic vomiting (McCallum, 2001), and medications that can impair gastric emptying such as opiates, anticholinergics, tricyclic antidepressants, and L-dopa.

4. Consider a GI referral, especially to a clinician experienced with gut motility issues.

3. Renal/Bladder causes:

a. Is there a history of urinary retention (all the time?, or periodically, especially during infections?).


1. Rule out a urinary tract infection if appropriate.

2. If urinary retention is occurring, especially if the patient has a urinary tract infection, a urology referral is warranted. A regular voiding regimen may be necessary, and perhaps intermittent catheterization.

4. Neurologic causes:

a. Is there a past or family history of migraine? Are episodes associated with headache or sensitivity to light or noise, or auras prior to symptoms?


1. Encourage adequate fluid and calorie intake. Some patients require more than

recommended fluid intake.

5. Pancreatic causes:

a. Are the medications the patient is taking associated with pancreatitis?


1. If the patient has documented pancreatitis, consider the child's medications as

the etiology. There is also a possibility that the pancreatitis could be directly

related to mitochondrial dysfunction.


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Chinnery PF, Jones S, Sviland L, et al. Mitochondrial enteropathy: The primal pathology may not be within the gastrointestinal tract. Gut 2001;48(1):121-4.

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Saps M, Li BU. Chronic abdominal pain of functional origin in children. Pediatr Ann 2006;35(4):249-56.

Zelnik N, Axelrod FB, Leschinsky E, et al. Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatr Neurol 1996;14:251-4.

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