From: Preliminary study on chronic granulomatous disease in Sri Lanka
Patient | Consanguinity | Sibling deaths | Age at manifestation | Clinical manifestation |
---|---|---|---|---|
P-01 | Yes | C1 (M) Died at 4 months after febrile illness C2 (M) Died at 2 months. Post mortem examination revealed numerous caseating granulomata of lung and pleural tissue, consistent with bronchopneumonia due to tuberculosis (TB) (or Mycobacterium bovis following BCG) C3 (M, P-12) Diagnosed with CGD. Died at 3 years | 1 month | Positive NBT. Diagnosed with CGD. On anti-microbial prophylaxis |
P-02 | No | No siblings | 1½ months | Otitis media and meningitis |
2½ months | Septicaemia. Treated with meropenem for 7 days | |||
3 months | Left axillary lymph node abscess. Anti-TB category I and II for 1 year | |||
4 months | Right upper lobe pneumonia, otitis media | |||
Oral thrush twice while on IV antibiotics | ||||
7 months | Positive NBT. Diagnosed with CGD. Prophylaxis commenced. Started anti-TB treatment | |||
2 years | Died following stem cell transplantation | |||
P-03 | No | C1 (M) Healthy | 12 days | Nasal vestibulitis. Treated with IV Augmentin |
27 days | Multiple skin abscesses on hands and feet | |||
Right elbow joint osteomyelitis | ||||
2 months | LRTI | |||
Positive NBT. Diagnosed with CGD. Prophylaxis commenced | ||||
5 months | Skin abscesses on right forearm and left buttock | |||
7 months | Skin abscesses, pus discharge from BCG scar site, left axillary lymphadenopathy. Mantoux > 10 mm | |||
P-04 | No | C1 (F) Healthy C2 (M) Died at day 11 due to septicaemia | 16 days | Fever, pyelonephritis, septicaemia, cellulitis, cervical lymphadenopathy, hepatosplenomegaly, and skin rash. Blood culture was positive for B. cepacia and Candida albicans |
43 days | Fever. Chest X ray revealed inflammatory changes. Lymph node biopsy revealed epithelioid cells and necrotizing inflammatory material. He was commenced on anti TB therapy | |||
2 months | Positive NBT. Diagnosed with CGD. Anti-microbial prophylaxis initiated | |||
P-05 | Yes | C1 (M) Died at 1 year 3 months after febrile illness | 6 months | LRTI |
10 months | Middle mediastinal mass. Biopsy indicated caseous necrosis. Compatible with TB, treated with anti-TB therapy | |||
11 months | Pneumonia | |||
2 years | Recurrent oral ulcers | |||
2 years 7 months | Positive NBT. Diagnosed with CGD. Started on anti-microbial prophylaxis | |||
5 years 7 months | Oral thrush | |||
P-06 | Yes | Sibling of P-05 | 1 year 8 months | Urinary tract infection (culture positive) |
Multiple episodes of pneumonia, meningitis. Cervical lymphadenopathy | ||||
4 years | Right cavitatory pneumonia, failure to thrive | |||
6 years | Left lower eye lid abscess and cellulitis | |||
Pseudomonas aeruginosa septicaemia | ||||
Ecthyma gangrenosum, parotitis | ||||
Positive NBT. Diagnosed with CGD. Anti-microbial prophylaxis initiated | ||||
10 years | LRTI. Sputum negative TB. Anti-TB therapy category I and later II commenced | |||
11 years | HRCT Chest—early parenchymal and interstitial lung fibrosis mainly affecting upper lobes, and bronchiectasis of lower lobes | |||
14 years | Bronchopneumonia, blood culture revealed C. parapsilosis | |||
LRTI | ||||
15 years | LRTI, abscesses | |||
P-07 | No | No siblings | 1 months | Poorly resolving pneumonia, high fever spikes |
2½ months | Multiple skin abscesses | |||
Positive NBT. Diagnosed with CGD. On anti-microbial prophylaxis | ||||
4 months | Abscesses occurred in scrotum, cheek and liver | |||
1 year 2 months | Blood stained stools. Right inguinal lymphadenopathy | |||
3 years | Anal fissure | |||
Inguinal lymphadenopathy. Excision biopsy revealed granulomata and central suppurative necrosis | ||||
3½ years | Poorly resolving pneumonia (right middle lobe and lower lobe consolidation). Mantoux 18 mm | |||
Anti-TB category I commenced | ||||
4½ years | Middle/left lobe pneumonia | |||
5 years | Pustules on the face. On itraconazole and cotrimoxazole prophylaxis | |||
P-08 | No | C2 (M) Healthy | 7 months | Dysentery |
8½ months | LRTI | |||
1 year 9 months | Fever of unknown origin (21 days) | |||
3½ years | Mediastinal mass. Biopsy revealed extensive caseous necrosis. Acid fast bacilli not seen. Mantoux negative. Anti-TB therapy category I commenced (7 months) | |||
3 years 9 months | Left lower lobe pneumonia | |||
4 years | Right middle lobe pneumonia, lymphadenopathy | |||
4 years 5 months | Anaemia, hepatosplenomegaly. Treated with Iron (7 months) | |||
4 years 8 months | Fever, erythematous pustular rashes on lower limbs. Bone marrow showed increased lymphoplasmacytic activity | |||
Perihilar lymphadenopathy. TB culture, TB-PCR negative. Query—relapse of TB. Started on anti-TB therapy category II (7 months) | ||||
5½ years | Fever for 1 month while on category II anti-TB therapy. Multiple areas of consolidation in lungs, mediastinal lymphadenopathy and hepatosplenomegaly. CT thorax guided biopsy—granulomatous inflammation suggestive of TB. Acute bronchopneumonia | |||
6 years 4 months | Positive NBT. Diagnosed with CGD. Prophylaxis commenced | |||
P-09 | Yes | C1 (M) Healthy C2 (F) Healthy | 3 days | Fever, mild jaundice. Treated with IV antibiotics |
2 months | Meningitis, bronchopneumonia. Treated with IV antibiotics | |||
3 months | LRTI. Treated with IV cefotaxime | |||
4 months | LRTI | |||
8 months | Fever, meningitis. Mantoux 26 mm. Anti-TB therapy started | |||
11 months | Positive NBT. Diagnosed with CGD. Prophylaxis commenced | |||
2 years | Patient expired | |||
P-10 | No | C1 (M) Died at 1½ years following possible pneumonia C2 (F) Healthy C3 (M) Died at 1 year 2 months following possible pneumonia C4 (M) Healthy C5 (F) Healthy | 1 year 1 month | Right middle lobe pneumonia, lung abscess |
Positive NBT. Diagnosed with CGD. Prophylaxis commenced | ||||
4 years | LRTI and perineal abscess | |||
6 years | Bronchopneumonia | |||
7 years | Skin abscesses over right knee joint | |||
9 years | Cystitis, splenomegaly | |||
10 years | Patient expired | |||
P-11 | Yes | No siblings | 1½ months | Severe failure to thrive, bilateral granulomatous cervical lymphadenitis. Defaulted anti-TB treatment |
4 months | Poor weight gain. Tonic convulsions, sepsis, hepatosplenomegaly. TB meningitis suspected. PCR of gastric aspirate for mycobacteria (GeneXpert) negative. Anti-TB therapy commenced | |||
6 months | Positive NBT. Diagnosed with CGD. Prophylaxis commenced | |||
1 year | Patient expired | |||
P-12 | Yes | Elder sibling of P-01 | 2 months | Admitted with febrile illness, and treated for sepsis with IV antibiotics for 21 days. Itraconazole and cotrimoxazole prophylaxis |
8 months | Skin abscess after DTP dose 3, liver abscess, fever, iron deficiency anaemia. IV antibiotics for 1 week. Liver abscess drained | |||
11 months | Positive NBT. Diagnosed with CGD | |||
2 years 3 months | Measles, fever, respiratory features, abdominal distension. Treated with IV antibiotics | |||
Mesenteric and paracentric lymphadenopathy. Anti-TB therapy commenced. Pus culture from abdominal wall abscess positive for MRSA | ||||
3 years 3 months | Liver abscess, lymphadenopathy. Patient expired due to possible TB compilations | |||
P-13 | No | No | 4 months | Skin abscesses |
Poor wound healing | ||||
6 months | Bronchiolitis | |||
7 months | Pyrexia | |||
Pseudomonas aerugenosa isolated from wound swab | ||||
Positive NBT. Diagnosed with CGD. Prophylaxis commenced |