[CIS-PAGID] Patient with suspected CGD

[Juan Carlos Aldave Becerra]

Dear doctors, I have been presented this case. I think it may be CGD but in Peru we don't perform DHR neither genetic studies. I am trying to send samples to Brazil. Do you have other diagnosis according to the clinical history?


Boy,
1 year 8 months old

 

FAMILY
HISTORY:

-      
Healthy parents, not consanguinity, 4 year-old healthy
sister.

-      
Maternal cousin died with TBC in 2010, no direct
contact with the patient.

 

PATIENT
HISTORY:

-      
Complete vaccines up to one year old, including BCG,
no adverse reactions.

-      
No severe infections before.

-      
No allergies

 

HISTORY:

-      
January 2011: fever, cough, bloody
diarrhea. Received oral antibiotics, cough persisted.

-      
April 2011: difficult breathing,
productive cough, diaphoresis, leukocytosis, CRP=24.72, hypoxemia → CHEST CT: signs of pneumonia, pleural effusion,
hydropneumothorax → received broad spectrum IV antibiotics (ceftazidime,
oxacillin, meropenem, vancomycin).

-      
June 2011: ABD-CHEST
CT: signs of right suprarrenal neuroblastoma, with infiltration of the
diaphragm; right lung: consolidated lesion with tumoral appearance in the
middle lobe, solid nodule in the upper lobe, pleural effusion; multiple
mediastinal, hiliar and right axilar adenopathies; ANGIO
CHEST CT: signs suggestive of right lung cystic adenomatous
malformation.

-      
June 2011: facial nodule, progressive
growing; biopsy: chronic granulomatous inflammatory
infiltrate without necrosis, no microorganisms in the colorations PAS, BAAR and
FITE.

-      
August 2011: lower
lobectomy of the right lung; macroscopy: 4 cm tumour, with
purulent material inside; microscopy: hemorrhage, lymphoid inflammation,
several granulomas with purulent central exudates and many giant cells; BK:
negative; fungi: Aspergillus; CONCLUSION: purulent granulomatous pneumonitis with Aspergillus
infection.

-      
The patient continued ill after the surgery. Chest
X-ray: opacity in right hemithorax; PPD: 20 mm; abdominal US:
hepatosplenomegaly → suspicion of disseminated tuberculosis with Aspergillus
superinfection (although no BK detection in many samples). Patient received
anti TBC treatment for some weeks, but got worse and was admitted to ICU →
during this time he has received treatment with meropenem, vancomycin,
amphotericin B, voriconazole, cotrimozaxole, ciprofloxacin,
amoxicillin-clavulanate.

-      
September 2011: Pseudomona
aeruginosa in bronchoalveolar lavage.

-      
October 2011: ABD-CHEST
CT: signs of acute bilateral parenchymal inflammatory process, with
nodular images in the right lower (granulomas?); mild right pleural effusion;
signs of pulmonary hypertension; mild hepatosplenomegaly.

-      
Currently the patient continues with fever. Meropenem
has been reintroduced.

 

WORK
UP:

Hematology:

WBC = 23200/µL

Neutrophils = 15000/µL

Metabolic:

CRP = 18.41

Immunology:

Ig A: 27 mg/dL

Ig G: 844 mg/dL

Ig M: 161 mg/dL

Total lymphs: 4343/µL
(NV: 2700-11900)

CD3 lymphs: 3207/µL

CD19 lymphs: 634/µL

CD16/CD56 lymphs: 23/µL

Sweat test for cystic
fibrosis: normal value 

Microbiology:

Bronchoalveolar lavage,
gastric aspirate and biopsy sample: no detection of M. tuberculosis

Pathology:

Bone marrow smear: reactive
bone marrow, adequate maturation of the series.

Skin biopsy: chronic granulomatous
inflammatory infiltrate without necrosis, no microorganisms in the colorations
PAS, BAAR and FITE.

 

 

SUSPECTED DIAGNOSIS:


 Granulomatous pneumonitis with Aspergillus and
     Pseudomona infection
 Primary Immunodeficiency: CGD?

Thank you very much 		 	   		  
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