Case discussion by Alissar el Sibai

10 year old male with FMF,

Thalassemia trait, undiagnosed
psychological condition and a
history of recurent UTI,
presenting with abdominal pain.
Contents
11.. Case presentation
2. History
2.
3. Differencial diagnosis
3.
4. Labs
4.
5. Ct
5.
6. Diagnosis
6.
7. Management
7.
 09.09.2024
Case
M.L. a 10 y/o male presented to the ER with a chief compaint of post-
prandial sudden intense right lower quadrant pain associated with
guarding and dizziness of 2 hours duration.
Hx goes back to 3 days prior when he had 2 episodes of watery,
non-bloody, non-mucoidy, diarrhea, and 2 episodes of projectile,
non-bloody, non-mucoidy vomitus (food).
He took scopinal and Sx were relieved according to the mother.
1 week prior to presentation he had decreased apetite.

He is KTH
FMF, GERD, Beta thalessemia trait,
and vit D deficiency
 History
PSH
Circumcised
Orchiopexy at 4 years
PMH
FMF diagnosed at 8 years, GERD, beta
thalessemia trait , Vit D deficiency, and
recurrent UTI
Allergies
Milk induces vomiting

Medications
Colchicine 1g every 3 days
(non compliant) Vaccinations
Nexium up to date as per mother
no documentation
Parental history
No consanguinity

Father
38, works at al Makassed but not in healthcare
or corporate

Mother
35, works as an assistant at a doctor’s clinic
Thalassemia minor, Iron deficiency anemia, FMF, and
hypertention
Sister
12, FMF, Scoliosis, epilepsy, GERD, migraine,
hepatomegaly, rheumatoid arthritis, hypothyroidism.
Past History
Prenatal Natal Postnatal

G2P2A0 Term (39Wks) Cry immediately

Well followed C- sec (2nd child) No NICU
GBS done Morpho scan: normal BW around 3 Kg
GDM: Negative Rota virus before 1m
GHTN: negative

Nutritional
Brestfed untill he started vomiting milk at 30 days, he was then diagnosed
with GERD so he was put on Nursi AR.
Started eating solid mashed food at 40 days of age as per mother.
Currently eats everything, but is mildly overweight although he undereats.
 Developemental
History

Fine
Gross Normal Social
•Normal Writes paragraphs at school Good communication
•Walks for long distances Friendly
•Climb stairs Language Has exam anxiety, forgets
•Started walking at 1Y2M everything he knows and
Normal starts crying, currently seeing
Speaks full sentences a psychologist as per mother.
Vital signs (at ER)

•Temp:36.7
•Pulse(HR): 73bpm
•RR:22
•SpO2: 98%
 Physical exam
Inspection
Lying in bed, not jaundiced, not cyanosed, alert, conscious, oriented to
person, place & time.
No head and neck injury, no lesions, intact sensation, no facial
weakness or paralysis, no thyroid nodules, no abnormal lymph nodes.
Conjunctiva and sclera were anicteric, pupils equally round and reactive
to light and accomodation.
Denies hearing loss, ringing in ears, or lesions.
Oropharynx Normal. No oral lesions.
Chest Symmetrical in size and shape, no masses or lumps, nipple intact,
no discharges, no skin changes or discoloration.
Respiration: normal. Good air entry bilateral, normal vesicular breathing,
no added sound. Normal chest expansions.
Physical
exam Right Lower quadrant tenderness
Distention with guarding
Abdominal McBuney sign +ve
Psoas sign +ve
Obturator sign +ve
Bowel sounds are normal.
Normal umbilicus position. No suprapubic
tenderness.
No bruit.
No hepatosplenomegely.
No skin lesion or palpable superficial masses.
 Differencial diagnosis
Given M.L.'s presentation, we need to
consider several diagnoses that explain Urinary Tract Infection Irritabe bowel Syndrome
the right lower quadrant pain, guarding, Gastroenteritis Crohn’s
and associated symptoms.
Appendicitis Ulcerative colitis
Colon/intestinal tumor
Urolithiasis
Mesenteric
Intussusception
lymphadenitis
Testicular torsion
Anterior cutaneous
Obstrucion/Volvulus
nerve entrapment
Trauma/ MSK pain
syndrome
FMF Flare Inguinal lymph nodes
Constipation infflamation
Labs
Electrolytes
Na: 133 ( slightly low)
K: 3.96 (normal) CRP: 0.18 (normal)
Cl: 98 (Normal) BUN: 11
Co2: 22 (notacidotic cause above 18) Urin analysis: Normal

CBC (normal)
WBC: 6
RBC: 4.6
Hb: 11.9
Hct: 34.1 (slightly low)
MCV: 74.4 (low)
Plts: 296 (normal)
CT abdomen and pelvis

Appendix: Not distended, measures 5 mm, no surrounding fat.

Mesenteric lymphadenopathy: Multiple enlarged lymph nodes, the
largest measuring 8 mm in the ileocecal region.
Mild small bowel distention, diffuse colonic distention with fecal
loading.
No ascites or retroperitoneal lymphadenopathy.
Liver: Normal dimensions, homogeneous.
Gallbladder: Not distended, no dilation of the bile ducts.
Pancreas, adrenal glands, and spleen: All normal, no abnormalities.
Kidneys: Normal size, no hydronephrosis or kidney stones.
Urinary bladder: Unremarkable, no anomalies detected.
 Fecal loading in colon

Iliocecal valve and appendix Rectum filled with stool

 Differencial Diagnosis
Acute Why Suspected:
Appendicitis Sudden, intense right lower quadrant pain.
Positive McBurney, Psoas, and Obturator signs,
all classic signs of appendicitis.
Associated vomiting and diarrhea.
Why Rejected:
CT
Differencial Diagnosis
Mesenteric Lymphadinits

Why Suspected:
mesenteric lymphadenitis can present with right lower quadrant
pain mimicking appendicitis.
The CT scan showed multiple mesenteric lymph nodes (biggest
measuring 8 mm)
Often occurs after a viral infection, which might explain the
preceding diarrhea and vomiting.
Why Rejected:
CT.
The lack of fever or systemic symptoms.
Differencial Diagnosis
Gastroenteritis
Why Suspected:
The patient had vomiting and diarrhea in the past
three days.
Why Rejected:
Symptoms were relieved with Scopinal
(antispasmodic), and no ongoing signs of dehydration,
fever, or abnormal bowel sounds were noted.
Differencial Diagnosis
Familial Mediterranean Fever (FMF) Flare
Why Suspected:
history of FMF, which can present with abdominal pain during flare-ups.
Why Rejected:
There was no fever, and the imaging did not show peritonitis or
inflammation that would typically be seen in an FMF flare.
FMF attacks usually resolve spontaneously after 1-3 days.
Differencial Diagnosis
Intestinal Obstruction
Why Suspected:
Vomiting, decreased appetite, and abdominal distension
Why Rejected:
No evidence of complete obstruction was found on the
CT scan, and bowel sounds were normal.
No significant levels of distention or air-fluid levels.
No evidence of hernia on physical exam
No history of abdominal surgeries for adhesions
Differencial Diagnosis
Colon/Intestinal tumor

Why Suspected:
constipation and colonic distension.
decreased appetite.
Why Rejected:
The CT did not show any masses, obstructions, or lesions indicative of a tumor.
Differencial Diagnosis
Intussusception
Why Suspected:
Abdominal pain
Vomiting projectile
Diarrhea and abdominal distension: Intussusception can cause bowel
obstruction.
History of decreased appetite.
The right lower quadrant pain with positive signs.
Why Rejected:
CT did not show the characteristic "target sign" or "sausage-shaped"
The bowel distention was mild.
No "currant jelly stool" (stool mixed with blood and mucus) or rectal bleeding
was reported.
age >1y
Differencial Diagnosis
Anterior cutaneous nerve entrapment
Why Suspected:
Sharp abdominal pain that’s localized to the lower quadrants.
Guarding and tenderness.
Why Rejected:
The patient’s pain was likely deeper, given the positive McBurney, Psoas, and Obturator signs.
Differencial Diagnosis
Testiculaar torsion
Why Suspected:
Acute lower abdominal pain in lower quadrant can radiate from the
scrotum.
Vomiting and nausea.
Why Rejected:
no scrotal symptoms such as swelling, redness, or tenderness, nor any
history of trauma.
Differencial Diagnosis
Urinary Tract Infection (UTI) or Complicated UTI
Why Suspected:
Abdominal pain.
FMF can predispose to complicated UTIs.
Why Rejected:
No reported urinary symptoms like dysuria.
No fever
No tenderness over the bladder area.
Normal urin analysis
Differencial Diagnosis
Urolithiasis (Kidney Stones)

Why Suspected:
Right lower quadrant pain.
Vomiting and nausea: renal colic.
Beta-thalassemia trait: slightly higher risk of stone
formation due to increased hemolysis and altered urinary
excretion of certain metabolites.
Recurrent UTI history
Why Rejected:
CT.
Differencial Diagnosis
Crohn’s ileitis

Why Suspected:
Abdominal pain, vomiting, diarrhea, and poor appetite.
right lower quadrant pain.
FMF--> suspect inflammatory process.
Why Rejected:
Diarrhea was not bloody or mucous-filled, which would be
more characteristic of Crohn’s during a flare.
No history of weight loss or perianal disease.
Differencial Diagnosis
Ulcerative colitis
Why Suspected:
abdominal pain, diarrhea, and vomiting.
diffuse colonic distention.
Why Rejected:
No bloody diarrhea, a hallmark of ulcerative colitis.

Ulcerative colitis typically presents with chronic, recurrent episodes of bloody stools
and pain, which weren’t described in the patient’s history.
Differencial Diagnosis
Musculoskeletal pain
Why Suspected:
Sudden onset of pain: Could suggest a musculoskeletal injury or strain.
Guarding.
Why Rejected:
no history of trauma or significant physical activity.
No improvement or relief of symptoms with positional changes or rest.
CT
Differencial Diagnosis
Irritable bowel syndrome
Why Suspected:
IBS is a common cause of abdominal pain associated with bowel habit changes (diarrhea or
constipation).
FMF patients sometimes report irritable bowel-type symptoms.
Why Rejected:
IBS is usually a diagnosis of exclusion, and in this case, the CT scan showed fecal impaction, providing a
clear organic cause for the symptoms
Differencial Diagnosis
Psychological/Psychosomatic
Why Suspected:
Psychosomatic pain can manifest as abdominal discomfort, especially in children with anxiety or stress.
M.L. has a complex medical history (FMF, GERD, Thalassemia), which could contribute to stress-related
gastrointestinal symptoms.
Why Rejected:
CT .
Diagnosis
Colonic Fecal Impaction
Why Suspected:
The patient’s decreased appetite, history of projectile vomiting, and post-prandial pain.
The presence of right lower quadrant pain can be referred pain due to distention or fecal
stasis in the colon.
Why Confirmed:
The CT scan definitively shows fecal loading in the colon without signs of any other major
pathologies like perforation, abscess, or severe inflammation.
Management of Fecal Impaction in a Pediatric Patient

Initial Management (In the ER)

Intravenous fluids: Correct dehdration.
Pain management (analgesics)
Manual disimpaction.

Laxatives and Enemas

Rectal enema: Saline or phosphate enema to soften stools
and stimulate bowel movements.
Oral laxatives:
Polyethylene glycol (PEG): Start with a high dose to clear
impaction, followed by a maintenance dose.
Alternatives: Magnesium citrate or bisacodyl.
 Long term
mangement
- Dietary Modifications
Increase fiber intake.
Encourage the patient to drink plenty of fluids to prevent stool hardening.

Educate the family on:

Dietary changes to prevent future constipation.
Hydration and activity levels for bowel health.
Schedule regular follow-ups with a pediatrician or gastroenterologist to monitor progress.

If recurrance, patient should:

Continue osmotic laxatives for several months.
Gradual tapering of laxative dosage as normal
bowel habits are restored.
Thank you for
your attention