Mystery Case

1
Mystery Case
Miguel A. Park, M.D. Mayo Clinic
2
Clinical Presentation

• 18 y/o male.
• 1 week history of bloody diarrhea and sudden
  onset sharp, diffuse abdominal pain.
• N/V, fevers, chills, weight loss of 12 lbs.
• Admitted to an OSH where colitis was diagnosed
  but no significant response to IV corticosteroid
  so transferred for further w/u.

3
OSH Work-Up

• WBC 13.9 (differential n/a)
• CRP 12.6
• IgA to S. Cerevisiae gt 500 (positive)
• IgG to S. Cerevisiae gt 47.2 (positive)
• Stool Studies
• C. Difficile negative, Stool culture negative
• 4 wbc
• CT Abdomen/Pelvis
• Abnormal wall thickening of the transverse,
  descending, sigmoid colon and rectum
• Flexible Sigmoidoscopy
• Severe colitis with aphthous-type ulcers,
  perianal fistula, no pseudomembranes c/w Crohns
• Rectal biopsy revealed diffuse moderate colitis
  with acute cryptitis and focal abscess formation

4
Pertinent Past Medical History

• Past history
• Age 10
• Left neck abscess (pus) refractory to Augmentin
  Required Unasyn and I/D
• No further testing
• Infection history
• 1 skin infection with abscess per year
• Previous skin abscesses on neck, thigh, and
  perirectal area
• Microbes are usually MSSA
• No Aspergillus infections
• No pneumonia, osteomyelitis, liver abscess,
  bacteremia, fungemia, or suppurative adenitis
• PSHx
• No surgeries other than I/D for abscesses

5
Medication History

• Allergies
• None
• Medications
• No mediations at home
• Transfer Medications
• Solumedrol 80 mg iv q8hrs
• Protonix 40 mg iv q24hrs
• Dilaudid PCA

• Current Hospitalization Medications
• Solumedrol 20 mg iv q8hrs
• Bactrim DS 1 tab po qd
• Protonix 40 mg po qd
• Hydromorphone 0.5 mg iv q1hr prn pain

6
Family History and Physical Examination

• Fhx
• No Immunodeficiency
• No Inflammatory Bowel Disease
• No early male or female deaths, infections,
  hospitalizations for infections

• PE
• VS 37, 110/78, 78
• NAD
• Facial scars
• No LAD
• RRR s1s2 no mrg
• CTA b no w/r/r/r
• No BS, soft, NT, ND, no HSM
• No edema

7
Further Work-Up

• Infectious Disease Studies and Consult
• Stool bacterial culture negative
• Stool o/p negative
• Stool cmv negative
• GI biopsy
• Repeat Flexible Sigmoidoscopy with biopsy
• Diffuse, circumferential, severe colitic changes
• Punched out ulcers from cecum to anal verge
• Endoscopic appearance c/w severe Crohns or
  opportunistic disease
• Biopsy
• Active chronic colitis without granulomas
• Rare pigment laden macrophage
• Distortion of crypt architecture

8
What is your Differential Diagnosis?
9

• What is the diagnosis?
• CGD
• What is the next step?
• Genetic testing
• What do you think about the mother?
• Possible new mutation of CGD

10
gp91phox
C1023 T CGA(R130) TGA(stop)
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GI Disease in CGD

• Largest cohort 140 CGD patients 95(67)
  X-linked and 45 (33) Autosomal recessive1
• 46 (32.8) had GI involvement
• Median age of initial GI manifestations 5 yrs
  (0.8-30 years)
• 70 presented w/ GI involvement in first decade
  of life
• Abdominal pain most frequent sxs (100)
• Hypoalbuminemia most frequent sign (70)
• Conclusions
• GI involvement is common in CGD, esp. Crohns or
  UC like.
• Of the 46 patients with GI involvement, 89 has
  x-linked inheritance
• Family history important but de novo mutation can
  occur.

1. Marciano et al. Gastrointestinal Involvement
in Chronic Granulomatous Disease. Pediatrics
August 2004 114(2) 462-468