What is the differential diagnosis for constipation in a pediatric patient?

Differential Diagnosis for Pediatric Constipation

Primary Functional Constipation (Most Common)

Functional constipation accounts for the vast majority of pediatric cases, with a global prevalence of 14.4% using Rome IV criteria, and represents the diagnosis when structural and biochemical causes are excluded. 1

Key Diagnostic Features:

• Stool withholding behavior following a painful or frightening bowel movement is the most common underlying mechanism 2
• Presence of at least 2 Rome IV criteria for ≥1 month in children <4 years or ≥2 months in children ≥4 years 1
• Hard, infrequent stools (<3 bowel movements per week), straining, sensation of incomplete evacuation, or manual maneuvers to facilitate defecation 3

Organic Causes Requiring Exclusion

Anatomical/Structural Disorders:

• Hirschsprung disease: Consider when constipation begins in the neonatal period with delayed passage of meconium (>48 hours), failure to thrive, and explosive stools after rectal examination 2
• Anal stenosis or imperforate anus: Identified on physical examination 3
• Intestinal malrotation: May present with constipation and abdominal distention 3
• Functional megacolon: Distinguished from Hirschsprung by rectal biopsy 3

Neurological/Neuromuscular Disorders:

• Spinal cord abnormalities (tethered cord, spina bifida): Look for sacral dimple, tuft of hair, or neurological deficits on examination 2
• Cerebral palsy: Associated with global developmental delays and motor dysfunction 2
• Dysfunctional voiding/pelvic floor dysfunction: Presents with staccato urinary flow pattern, urinary incontinence, and recurrent UTIs 3, 4

Metabolic/Endocrine Disorders:

• Hypothyroidism: Screen with thyroid function tests if growth failure or other systemic symptoms present 3
• Hypercalcemia: Check serum calcium if polyuria, polydipsia, or failure to thrive 2
• Diabetes mellitus: Consider with polyuria, polydipsia, weight loss 2
• Celiac disease: Evaluate if diarrhea alternates with constipation, failure to thrive, or abdominal distention 3

Medication-Induced:

• Opioid-induced constipation (OIC): Defined as constipation triggered or worsened by opioid analgesics, with similar presentation to functional constipation 3
• Anticholinergics, antacids (aluminum/calcium), iron supplements, anticonvulsants: Review medication history 3

Gastrointestinal Disorders:

• Inflammatory bowel disease (IBD): Consider with weight loss, bloody stools, perianal disease, or family history of IBD 3
• Intestinal dysmotility syndromes: May present with severe, refractory constipation and abdominal distention 3
• Gastroesophageal reflux with oral aversion: Common in syndromes like cardio-facio-cutaneous syndrome, leading to feeding difficulties and secondary constipation 3

Genetic/Syndromic Causes:

• Down syndrome, Prader-Willi syndrome, Williams syndrome: Associated with hypotonia and intestinal dysmotility 2
• Cardio-facio-cutaneous syndrome: Presents with intestinal dysmotility, constipation, and feeding difficulties 3
• Cystic fibrosis: Consider with failure to thrive, recurrent respiratory infections, or meconium ileus history 2

Red Flags Requiring Further Investigation

Clinical Warning Signs:

• Onset in neonatal period with delayed meconium passage (>48 hours) suggests Hirschsprung disease 2
• Failure to thrive or weight loss: Evaluate for organic disease including celiac disease, IBD, hypothyroidism 3
• Bloody stools: Warrants colonoscopy to exclude IBD, particularly in children with family history 3
• Severe abdominal distention with bilious vomiting: Requires imaging to exclude malrotation or obstruction 3
• Neurological abnormalities (absent cremasteric reflex, decreased lower extremity tone/strength, abnormal gait): Obtain spinal imaging 2
• Abnormal thyroid examination or growth velocity: Check thyroid function tests 3

Associated Conditions to Evaluate

Urological Dysfunction:

• 66% of children with constipation and increased post-void residual urine improve bladder emptying after constipation treatment alone 4
• Constipation causes weak urinary stream through physical pressure on bladder/urethra and pelvic floor hyperactivity 4
• Evaluate for daytime/nighttime incontinence, recurrent UTIs, and vesicoureteral reflux 4

Behavioral/Psychological Factors:

• Toilet training difficulties, school avoidance, or stool withholding behaviors should be assessed 2
• History of abuse, emotional stress, or behavioral issues may contribute centrally 5

Diagnostic Approach

Essential History Elements:

• Stool frequency, consistency (Bristol Stool Scale), and presence of blood 6
• Age of onset, meconium passage timing, and progression of symptoms 2
• Dietary intake (fiber, fluid), medication use, and family history 7
• Bowel habits during defecation and urinary symptoms (frequency, stream quality, incontinence) 3, 4

Physical Examination Priorities:

• Abdominal examination for distention, palpable fecal masses 3
• Perianal inspection for position, fissures, skin tags, or sacral abnormalities 2
• Neurological examination including lower extremity reflexes, tone, and gait 2
• Growth parameters plotted on growth curves 3
• Rectal examination (when indicated) to assess tone, stool in vault, and explosive stool after examination 2

Imaging and Laboratory Testing:

• Abdominal ultrasound can identify rectal impaction and post-void residual urine non-invasively 4, 6
• Plain abdominal radiography during acute episodes to exclude obstruction 3
• Uroflowmetry with EMG (repeated 3 times) if dysfunctional voiding suspected, showing staccato pattern with reduced flow 3
• Laboratory studies (CBC, ESR, thyroid function, celiac serologies) only when red flags present 3
• Rectal biopsy if Hirschsprung disease suspected based on clinical presentation 3

Common Pitfalls to Avoid

• Failing to assess bowel function in children presenting with urinary symptoms—always evaluate for constipation first 4, 7
• Premature cessation of laxative treatment leading to relapse—treatment typically requires months of maintenance therapy 7
• Over-investigation in typical functional constipation—thorough history and examination are sufficient in most cases 2, 8
• Missing spinal cord abnormalities—always perform careful neurological and sacral examination 2
• Attributing all constipation to diet alone—while fiber/fluid help, most children require pharmacological treatment 8