Spectrum of imaging findings of chronic granulomatous disease: a single center experience

Abstract

The purpose of this pictorial essay is to present and summarize findings of various images of chronic granulomatous disease (CGD). CGD represents a heterogeneous group of disorders caused by defective generation of respiratory bursts in human phagocytes. This defect results in abnormal phagocytic functions and defective killing of bacteria by phagocytes. CGD may involve many organs and present with recurrent infections and inflammations. Radiologists should consider the possibility of CGD when a patient presents with atypical and recurrent infection. They must also consider other concurrent infections a patient may have.

Figure 1

Pathogenesis of chronic granulomatous disease (CGD). Neutrophil (I) is a type of phagocyte with a single or multilobed nucleus, and granules. Normally, microbial phagocytosis (II) is carried out by neutrophils. Then, respiratory burst occurs by activation of the NADPH oxidase (III). Finally, microbes are effectively removed by the reactive oxygen species formed within the phagosomes (IV). However, owing to the genetic defect of NADPH oxidase enzyme complex in CGD patients, the reactive oxygen species are not generated. Thus, microbes remain alive within the phagosomes, causing chronic infection (V).

Figure 2

Pneumonia in a 17-year-old girl with CGD who presented with fever and chronic cough. Axial chest computed tomography (CT) shows subsegmental consolidations (arrows) and septal thickening (arrowheads) in the right upper lung. The diagnosis of pneumonia caused by a Mycoplasma sp. was confirmed.

Figure 3

Lung abscess in an 11-year-old boy with CGD who presented with fever. Axial contrast-enhanced chest CT reveals an air-fluid level within the consolidation (arrows) of the right upper lung.

Figure 4. a, b

Chronic pulmonary manifestation in a 26-year-old female with CGD who presented with chronic cough. Axial chest CT (a) shows traction bronchiectasis associated with reticulation in the left lower lobe at the level of the carina. It also shows honeycomb appearance in both lower lobes at the level of the lung base (b).

Figure 5

Bilateral inguinal lymphadenopathy in an 8-year-old child with CGD who presented with a palpable inguinal mass. Axial abdominal and pelvic CT shows multiple enlarged lymph nodes (arrows) in bilateral inguinal areas.

Figure 6

Cervical lymphadenopathy in a 9-year-old girl with CGD who presented with right neck swelling. Her contrast-enhanced neck CT shows multiple enlarged and enhanced lymph nodes (arrows) in the right cervical chain.

Figure 7

Suppurative cervical lymphadenitis in a 13-year-old girl with CGD who presented with palpable, painful mass in the right submandibular area. Contrast-enhanced coronal neck CT shows enlarged and enhanced lymph nodes with a central low-density area (white arrow) in the right cervical chain. It also reveals cellulitis accompanied by an adjacent soft tissue abscess (black arrow). The result of a bacterial culture done for this abscess revelaed an isolate of S. aureus.

Figure 8

Calcified lymph node in a 4-year-old boy with CGD who presented with recurrent axillar swelling. Unenhanced chest CT coronal image exhibits enlarged lymph nodes (arrows), accompanied by multiple small calcifications, in the left axillar area.

Figure 9

A liver abscess in an 8-year-old girl with CGD who presented with fever and abdominal pain. Axial contrast-enhanced CT exhibits classic liver abscesses with central low attenuation and peripheral ring enhancement in the right liver. Culture study of abscess aspirate revealed an isolate of S. aureus.

Figure 10

A liver abscess in a 14-year-old girl with CGD who presented with fever. Transabdominal ultrasonography shows lobulated thick-walled cystic lesions (arrows) with internal septations in the right lobe of the liver.

Figure 11. a, b

Multiple liver abscesses in a 23-year-old patient with CGD who presented with fever. Axial contrast-enhanced CT (a) shows a multiloculated abscess with peripheral and septal enhancement in the right lobe of the liver. A fluoroscopic abscessogram (b) obtained after percutaneous catheter drainage shows amorphous collection of contrast material in the liver abscess.

Figure 12

Subcutaneous abscess in a 16-month-old patient with CGD who presented with right upper arm swelling. Ultrasonography shows an ill-defined heterogeneous hypoechoic lesion (arrows) in the subcutaneous layer of the right upper arm, accompanied by perilesional edema and swelling.

Figure 13

Osteomyelitis of the ribs in a 16-year-old boy with CGD who presented with the right shoulder pain when he was being treated for pneumonia. Axial chest CT reveals a focal osteolytic lesion (arrows) in the second rib.

Figure 14

Acute osteomyelitis in a 7-year-old girl with CGD who presented with right shoulder pain. Contrast-enhanced T1-weighted magnetic resonance imaging (MRI) shows diffuse enhancement in humeral metadiaphysis and epiphysis, periosteal reaction, and surrounding soft tissue changes.

Figure 15

Acute osteomyelitis in an 18-year-old female with CGD who presented with recurrent soft tissue swelling in the right third finger. The radiograph of her right third finger discloses a destructive osteolytic lesion (arrows) on the tip of the distal phalanx in her third finger.

Figure 16

Infectious myositis and cellulitis in the right lateral thigh in a 6-year-old boy with CGD who presented with painful swelling in the right thigh. Axial T2-weighted MRI shows multifocal high signal intensity lesions (arrows) within the muscle. In particular, a necrotic fluid collection is demonstrated within the vastus lateralis muscle. The adjacent subcutaneous tissues are inflicted with cellulitis (arrowhead).

Figure 17

Multiple brain abscesses in a 6-year-old boy with CGD who presented with headache. Contrast-enhanced T1-weighted MRI shows multiple ring-enhancing lesions (arrows) with vasogenic edema in the brain, mainly in the gray matter-white matter junction.

Figure 18

Necrotizing otitis externa in a 9-year-old boy with CGD who presented with continuous otorrhea. Temporal bone CT shows soft tissue density that fills the external auditory canal, erosion of the ossicles, and destruction of the mastoid bone.

Figure 19

Parotitis with an abscess in a 5-year-old girl with CGD who presented with a mass on the left neck. Contrast-enhanced T1-weighted MRI shows an enlarged right parotid gland (arrows) with abscess formation. The right parotid gland (arrows) is markedly enlarged in comparison with the left parotid gland (arrowheads).

Figure 20

Esophagitis in a 12-year-old patient with CGD who presented with fever and dysphagia. Coronal contrast-enhanced chest CT shows diffuse edematous wall thickening (arrows) of the esopgahus. There is subsegmental consolidation in the upper lobe of the right lung.

Figure 21

Granulomatous gastritis of CGD in a 12-year-old patient who presented with epigastric pain. Coronal contrast-enhanced abdominal CT scan shows diffuse gastric wall thickening (arrows) including the antral wall without the gastric outlet symptom.

Figure 22

Lower gastrointestinal tract affliction in a 15-year-old boy who presented with abdominal pain. Axial contrast-enhanced CT shows abnormal segmental wall thickening, narrowing of the cecum (white arrows) and the terminal ileum (black arrow), and conglomerated multiple lymph nodes (arrowheads) adjacent to the ileocecal valve.

Figure 23

Cystitis in an 11-month-old patient with CGD who presented with abdominal pain. Transabdominal ultrasonography shows diffuse wall thickening (arrows) in the urinary bladder.

Figure 24

Renal calcification in a 16-year-old girl with CGD who presented with a history of recurrent renal infection. Transabdominal renal ultrasonography shows calcification (arrow) with a posterior shadowing in the mid pole of the left kidney.