Constipation

Question 1

Case
2 year old male from Laguna
CC: difficulty defecating

History of Present Illness
Born FT to a 29 year old G3P2(2002) mother via SVD at a hospital, no FMC
Noted to have difficulty defecating for 6 weeks, often seen standing
against the wall and straining. This morning, noted to have blood streaked stools.
(+) passage of stool within 24 hours of life
(-) current medications , no pica

Ancillary History
Past Medical History: no history of asthma , newborn screening
negative
Family Medical History: (-) Family history of bronchial asthma, no history of malignancy
Immunization history: given BCG x 1 dose, OPV x 3 doses,
Hepatitis B x 3 doses, DPT x 3 doses , measles x 1 dose c/o the local health center.
Nutritional History: breastfed for 2 months only then shifted to formula feeding, picky eater
Developmental History: head support at 4months
Personal/Social History: lives in a rented apartment, father works as a messenger while mother manages a sari sari store

PHYSICAL EXAMINATION
General Survey
Awake, not in cardiorespiratory distress
Anthropometrics
Weight =12 kg, length =79 cm
Vital signs
BP 80/50 HR 102 bpm RR 32 bpm T 36.5C O2 sats (room air) =
100%
Skin: No rash
Head and Neck: Pink conjunctivae, anicteric sclerae, (-) nasal
congestion, (-) cervical lymphadenopathies
Chest and Lungs: Equal chest expansion, (-) retractions, (-)rales, (-) wheezes
Cardiac: Adynamic precordium, normal rate and regular rhythm, no murmur
Abdomen: Normoactive bowel sounds, (-) masses/tenderness, (-) hepatomegaly, intact Traube’s space, no abnormal abdominal musculature, no sacral dimple/tuft of hair, no fissures, good sphincteric tone
Extremities: Full and equal pulses, (-) edema/cyanosis/clubbing,
wide, CRT less than 2 sec

Neurologic exam: normoreflexive, 100% sensation on all
extremities

LABORATORY RESULT:
CBC
Date Normal*
WBC 5 x109/L
RBC 3.1x109/L
Hgb 80 g/L
Hct 0.30%
MCV 75fL
MCH 25 pg
Platelets 350x109/L
Neut% 0.7
Lymph% 0.3
Mono% 0.0
Eo% 0.0
Baso% 0.0

TSH, FT4 = Normal
Lead level : normal
Serum Mg, Ca: normal
Plain abdominal film: (+) rectal gas, (+) fecal impaction, no spina bifida occulta

Question 2

What is functional constipation?

Answer 2

CH 332: FUNCTIONAL CONSTIPATION
- “idiopathic constipation, fecal withholding”
- <2 stools/wk or passage of hard, pellet like stools for
>2 weeks
- Neonate: always organic. Not fxnal constipation
- Most commonly seen in a child who wants to avoid
unpleasant defecation
- Decreased frequency of stools –> voluntary
withholding of stools –> large diameter painful stools
- Constipation without evidence of a pathologic condition
- No underlying organic problem, structural abN
(tumors/masses), biochem abN, persistent and
recurring GI sx
- Risk factors: diet (excessive cow milk), coercive toilet
training, recent family trauma/stress, school

Question 3

What is the pathophysiology of functional constipation?

Answer 3

Pathophysio
- N: rectal distention stimulates stretch receptors and
myenteric plexus promoting peristalsis. Until 2yo,
defecation is an interplay of the autonomic NS and
enteric NS. In the older child, reflex is modified by
volition (CNS)
- The child has forgotten his voluntary mechanism of
defecation due to pain, fear, and anxiety
- Vicious cycle: rectal distention/ fecal impaction –>
ignore urge to defecate –> rectum accommodates,
hard stools develop –> painful defecation –> retentive
posturing

Question 4

What are the clinical manifestations of functional constipation?

Answer 4

CM
1. Retentive posturing – withholding behavior
- Contracting the gluteal ms by stiffening the legs while
lying down, holding onto furniture while standing,
squatting quietly in a corner while waiting for urge to
defecate passes as rectum accommodates its contents,
tip toeing/ crouching, contract gluteals, scissoring of
legs, stiffening

2. painful or hard BM with resultant voluntary
   withholding of feces
   a. toilet training
   b. changes in routine or diet
   c. stressful events
   d. intercurrent illness
   e. unavailability of toilet
   f. postponement due to busy activities
3. DRE: not routine. Indications: fecal impaction, bloody
   stools, intractable >3mos. stool-filled rectal vault. large
   fecal mass on rectum, large diameter stool, guiac(-)
   stool
4. Encoporesis – fecal incontinence caused by leakage of retained stools, underwear soiling
5. Foul smell/ halitosis – from overgrowth of bacteria
   from putrefaction in fecal stasis
6. Recurrent abdominal pain
7. Recurrent UTI
8. Anal fissures/ bloody stools
9. Hemorrhoids
10. Psychological problems

Question 5

What are the red flags?

Answer 5

Red flags
1. no passage of meconium
2. FTT
3. Fever
4. Abdominal distention
5. Hypotonia/ sacral dimple
6. No cremasteric reflex

Question 6

Study algorithm for CONSTIPATION

Question 7

Diagnostics

Answer 7

Dx
Clinical
1. Bristol stool chart
a. Type 1-2 = constipation
b. Type 3-4 = ideal stool
c. Type 5-7 = diarrhea and urgency

Rome IV criteria for functional constipation
Infants – 4yo: 1 mo duration
>4yo (school child): 2 mos duration
At least 2 of the ff:
1. Two or fewer defecation per week
2. History of excessive stool retention
3. Hx of painful or hard BM
4. Hx of large diameter stools
5. Presence of large fecal mass in the rectum
6. In toilet trained children: at least one episode/week of
incontinence
7. Large diameter stools w/c may obstruct the toilet
Diagnostics
1. Anorectal motility studies – demo pattern of
paradoxical contraction of ext anal sphincter during
defecation
2. Abd XR – not necessary. Large fecal burden throughout
colon, paucity/absence of luminal gas. Indications:
fecal impaction, obesity

Question 8

What are the complications and management of constipation?

Answer 8

Complic
1. Urinary incontinence/retention, UTI, megacystitis, toxic
megacolon

Mgt
1. Family education/ demystification
2. Dietary modification – adequate fluid intake, sorbitol
juices, balanced diet. For >3yo: Fiber = age + 5g
3. Behavioral modification – positive reinforcement,
proper positioning: knees higher than hips, lean
forward, rest elbows on knees, squatting position, no
gadgets, blowing exercises
4. Pharmacologic
a. Disimpaction
Goal: catharsis
§ Infant: glycerin suppository
Child: mineral oil, senna,
bisacodyl (po); enemas,
bisacodyl suppositories
PEG 4000 polyethylene glycol 1-
1.5g/k/d x 3-6d po
Lactulose 1-3 ml/kg/d po
Phosphate soda fleet enema 3
ml/kg/dose x 3-6d per rectum
b. Maintenance
Goal: 1-2 stools/d of Type 4 (long soft
stools, non-foul, no pain) + disappearance
of withholding behavior in 1 month
Necessary for 2-12 months
Dose: titrate according to desired outcome
§ Infant: osmotic laxatives
§ Child: mineral oil, stimulant
laxatives, PEG
o Premature discontinuation leads to relapse,
may lead to re-accumulation fecal stasis
5. Maintain a stool diary/ stool chart

Question 9

How can we prevent?

Answer 9

Anticipatory counselling
Prognosis
- 80% recovery

Question 10

What is Hirschprung disease?

Answer 10

• “Congenital aganglionic megacolon”
• Most common cause of lower intestinal obstruction in
  neonates
• Rare cause of intractable constipation in toddlers and
  school age children
• Incidence: 1 in 5000 live births
• Developmental disorder of enteric NS
  Short segment Hirschsprung disease
• Aganglionic segment may be extremely short
• May be undiagnosed until childhood
• Rarely presents with constipation alone
• Ribbon-like stools, FTT

Question 11

What is the pathophysiology of Hirschsprung?

Answer 11

Patho
- Result of absence of ganglion cells in the bowel wall
(submucosal and myenteric plexus) causing inadequate
relaxation and hypertonicity (usually rectosigmoid
area)

Question 12

Clinical manifestations of Hirschsprung disease?

Answer 12

CM
1. Failure to pass meconium (<10% pass meconium in
24h)
2. Chronic constipation
3. Distended abdomen
4. bilious emesis
5. feeding intolerance
6. DRE: contracted anal sphincter and rectum. Empty
rectal vault, explosive discharge of foul-smelling liquid
stools
7. Enterocolitis: due to bacterial stasis (C.difficile,
S.aureus, anaerobes, coliforms)
- Diarrhea, abd tenderness, sepsis, bowel obstruction
- Must be dx early to reduce M&M

Question 13

Differentials?

Answer 13

DDx: Currarino triad
- anorectal malformations (ectopic anus, anal stenosis,
imperforate anus)
- sacral bone anomalies (hypoplasia, poor segmentation)
- presacral anomaly (anterior meningocele, teratoma,
cyst)

Question 14

Diagnostics for Hirschsprung?

Answer 14

Dx
1. Rectal biopsy – gold standard
2. rectal manometry – evaluate internal anal sphincter
3. barium enema – initial screening test to r/o
Hirschsprung ds
- unnecessary beyond infancy
- ID transition zone: dilated proximal colon vs abruptly
narrow aganglionic segment. Classic finding.

Unreliable in:
o Total colonic Hirschsprung disease
o Ultra-short segment HD

Question 15

What is hypothyroidism?

Answer 15

CH 565: HYPOTHYROIDISM
- Due to deficient production of hormone or a defect in
a hormonal receptor activity
- Congenital or acquired

Question 16

Etiopathogenesis of CONGENITAL HYPOTHYROIDISM

Answer 16

CONGENITAL HYPOTHYROIDISM
Etiopatho
1. Thyroid dysgenesis (aplasia, hypoplasia, ectopia): most
common cause of congenital hypothyroidism
2. Dyshormogenesis – defect in TH synthesis
3. TSH unresponsiveness
4. Endemic goiter – iodine deficiency
5. Maternal ab – thyrotropin receptor-blocking Ab
(TRBAb)
6. Maternal medications – PTU, MMI, iodide,
amiodarone, radioiodine

Question 17

What are the clinical manifestations of Congenital hypothyroidism?

Answer 17

CM
1. Usually asx’c at birth. N BW and BL.
2. Feeding difficulties, sluggishness, lack of interest,
somnolence
3. Respiratory difficulties due to large tongue
4. Constipation unresponsive to tx
5. Progressive retardation of physical and mental devt
6. Prolonged physiologic jaundice: earliest sign
7. Large abdomen, usually w/ umbilical hernia
8. Cold intolerance, failure to lose weight despite poor
appetite
9. hypoT, cold, mottled skin
10. dry and scaly skin
11. edema of genitals and extremities
12. stunted growth, short extremities
13. depressed nasal bridge, narrow palpebral fissures,
swollen eyelids, delayed dentition, short and thick
neck, deposits of fat above the clavicles and between
the neck and shoulders
14. coarse, brittle, scanty hair
15. hoarse voice, hypotonic
16. delayed sexual maturation

Question 18

What are diagnostics?

Answer 18

Dx
1. NBS – screen for congenital hypothy
2. Elev serum TSH – used in screening; N or low in
secondary CH
3. Low serum T4 and free T4
4. TBG – normal
5. T3 – no need to measure, often N
6. Thyroid scintigraphy – can determine underlying cause
and show ectopic gland (establishes need for lifelong
tx)
7. Thyroid UTZ – id presence or absence of thyroid gland

Question 19

Management of Congenital hypothroidism?

Answer 19

Mgt
1. Levothyroxine 10-15mcg/k/d OD x 0-3 mos
2. Normalization of thyroid function ideally within 2
weeks – vital to achieve optimal neurodevelopmental
outcome
3. Regular monitoring of hormone levels q1-2 mos in the
1st 6 mos of life, then every 2-4 mos between 6mos-
3yo

Question 20

What is CHRONIC LYMPHOCYTIC THYROIDITIS (HASHIMOTO
THYROIDITIS, AUTOIMMUNE THYROIDITIS)?

Answer 20

Most common cause of acquired hypothyroidism &
thyroid ds in children and adolescents
- May be euthyroid, hypothyroid, or thyrotoxic
o Due to leakage of preformed TH into the
circulation from the damaged gland lasting
for upto 60d
Etiopatho
- Organ-specific autoimmune disease characterized
histologically by lymphocytic infiltration between the
thyroid follicles and presence of lymphoid germinal
centers
- Thyroid peroxidase ab (TPO-Abs) & thyroglobulin Abs
(Tg-Abs) in 95%
- More common in F

Question 21

What are the clinical manifestations?

Answer 21

CM
1. Goiter – most common manifestation
- Diffusely enlarged, firm, nontender, pebbly
2. Growth deceleration
3. Most clinically euthyroid & asx’c
4. Variable clinical course
5. Constipation, dry skin, brassy cry, wide anterior
fontanelle, hypotonic, umbilical hernia

Question 22

What are the diagnostics?

Answer 22

Dx
1. FT4, TSH – often N, euthyroid state
- Subclinical hypothyroidism: elev TSH, N FT4
- Overt hypothyroidism: elev TSH, low FT4
2. TPOAbs, TgAbs
3. Thyroid scan – not usually needed. Irregular and
patchy distribution with dec uptake of radioisotope
4. Thyroid UTZ – not usually needed. Heterogenous
echogenicity
5. Biopsy – definitive dx. Done only for prominent
nodules that persist despite tx to r/o cancer

Question 23

Management

Answer 23

Mgt
1. May be self-limited (spontaneous regression) or persist
for years as euthyroid
2. Thyrotoxicosis: NSAIDs, short course CS with w/ severe
pain
3. Beta-blockers (Propanolol 1-3 mg/dose IV over 10 min
q4-6 – for palpitation
4. Periodic re-evaluation q6-8 weeks for early detection &
tx of hypothy
4. Levothyroxine – for sx’c hypothy. For subclinical, until
growth and puberty.
Levothyroxine 10-15mcg/k/d OD x 0-3 mos

Question 24

Spinal cord abnormalities

Answer 24

Etiopatho
- Due to failure of the neural tube to close
spontaneously between the 3rd and 4th week of in utero
development
- Risk factors: fever, drugs, malnutrition, chemicals,
maternal obesity or DM, genetic determinants
- 75% lumbosacral

Question 25

What are the different types of spinal cord abnormalities?

Answer 25

1. Spina bifida occulta:
   -midline defect of the vertebral bodies without protrusion of the spinal cord or meninges
   -most are asymptomatic
   -rule out occult spinal dysraphism which usually presents with cutaneous skin manifestations
   -assoc with more significant anomalies (syringomyelia, diastomyelia, lipoma, tethered cord)
2. Meningocele
   -meninges herniate through a defect in the post vertebral arches or anterior sacrum
   -Spinal cord is usually normal
   -fluctuant midline mass that might transilluminate usually in the lower back
   -most are well covered with skin
   -look out for urologic manifestations such as bladder/bowel incontinence or dysfunction
3. Myelomeningocele
   -most sever form of dysraphism
   -meninges, along with spinal cord elements, herniate through the defect
   -affects many structures (skeleton, skin, GIT, GUT
   -in newborns: sac-like cystic structure covered by a thin layer of skin or partially epithelialized tissue
   -may have paralysis of the lower extremities, areflexia, sensory abnormalities, and bladder and bowel abnormalities
   -Chiari II malformation presents with hydrocephalus and myelomeningocele

Question 26

Diagnostics and management

Answer 26

Dx
1. XR – assess vertebral bodies and bony structures
2. UTZ – assess soft tissue structures of the SC
3. MRI – dx test of choice for all ages
4. Cystometogram – ID neurogenic bladder
5. Cranial CT scan – r/o hydrocephalus
Indications for imaging:
Imaging is indicated if any of the ff is present:
1. SC mass or lipoma
2. Hairy patch
3. Dermal sinus
4. Atypical dimples (deep >5mm, >25 mm from anal
verge)
5. Vascular lesions like hemangioma
6. Skin appendages or polypoid lesions like skin tags
7. Scar-like lesions
Indication is uncertain in the ff:
1. Hyperpigmented patches
2. Deviation of gluteal fold
Imaging not required:
1. Simple dimples <5mm, <25mm from anal verge
2. Coccygeal pits

Mgt
1. Immediate surgery – for CSF leaks to prevent
complications:
a. Repair of myelomeningocele
b. Shunting for hydrocephalus

Question 27

Prevention

Answer 27

Prevention
1. Prenatal screening – maternal serum AFP at 16th-18th
wk AOG: ID pregnancies at risk for fetuses with neural
tube defects (NTD) in utero
2. Folic acid 0.4mg OD – maternal use preconception
started before conception until at least 12 weeks AOG
when neurulation is complete

Question 28

prognosis

Answer 28

• 10-15% mortality rate with aggressive tx
• 70% survivors with N intelligence

Question 29

What is lead poisoning and clinical manifestations?

Answer 29

CH 721: LEAD POISONING
Lead – purely toxicant
- Non-essential element
Etiology
Sources of exposure
- Paint chips, dust, soil, occupational (mining, auto,
battery), gasoline, cosmetics (Kohl), imported toys,
plastics, Chinese medicine
Pathophysio
- MC PW for lead toxicity = hand-to-mouth activity
- Lead absorption varies
o Inc on empty stomach
o Inc on Ca and Fe deficiency
- Mechanism of Lead toxicity
1. Lead ingestion (hand-to-mouth) –> bone accumulation
of lead, RBC bound (97%)
2. Congestion with Ca –> abN intracellular signaling, NT
release
3. Prevent dev’t of N tertiary brain structure –>
irreversible dec in gray and white matter volume and
neuronal function
CM
1. GI – anorexia, abdominal pain, vomiting, constipation
2. CNS – headache, change in mentation, lethargy,
papilledema, sz, coma, death
- >100 ug/dL = lead encephalopathy
- >20 ug/dL = hyperactivity
3. Renal – reversible Fanconi syndrome
- >100 ug/dL = renal tubular dysfunction
4. Hema – hemolytic anemia

Question 30

What are the diagnostics for lead poisoning?

Answer 30

Dx
1. Screening - all children between 12mos-24mos
Screening questionnaire
a. Does the child live/visit a house built
<1950?
b. Visit/live in house <1978 undergoing
remodeling?
c. Sibling/playmate with lead poisoning?
2. Blood lead level (BLL) – gold standard for determining
health effects
- 5 ug/dL – reference value (97th percentile of lead
exposure/hazard)

Question 31

what is the management?

Answer 31

Mgt
1. 10-19 ug/dL = environmental intervention:
a. Remove lead
b. ID source
c. Behavioral modification – reduce
nonnutritive hand-to-mouth activity
d. Diet: inc Ca, Fe, VitD
2. <44 ug/dL = chelation (DMSA) tx if sx’c
3. 40-79 ug/dL = referral
4. >80 ug/dL = urgent medical evaluation and chelation tx
- DMSA + BAL (dimercapnol) if w/o encephalopathy
- CaNa2EDTA + BAL if w/ encephalopathy
5. >100 ug/dL = hospitalization with IV chelation