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Table 3 Contiguous Gene Syndrome (including McLeod Syndrome) complicating CGD

From: Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review

Clinical component

Evaluation (selected)

Myopathy

CPK level (serum)

 

EMG/NCS

Hemolytic Anemia

Reticulocyte cell count

 

Low haptoglobin

 

Acanthocytosis

Late-onset neurological syndrome

 

   Cerebral atrophy

CT/MRI

   Neuropathy

EMG/NCS

   Huntington's chorea-like disease

CT/MRI

   Neuropsychological and cognitive impairment

Neuropsychological testing

   Myopathy/DMD

EMG/NCS

 

Muscle biopsy*

   Seizures

EEG

Glomerulopathy with renal failure

Serum creatinine level

 

24 hour urine analysis

 

Renal imaging

 

+/- kidney biopsy

Cardiovascular disease

 

   Cardiomyopathy

ECHO

   Arrythmia

EPS

  1. CPK = creatine phosphokinase; EMG/NCS = electromyography and nerve conduction study
  2. CT = computed tomography; MRI = magnetic resonance imaging; EEG = electroencephalography
  3. ECHO = echocardiography (transthoracic or transesophageal); EPS = electrophysiological studies
  4. DMD = Duchenne muscular dystrophy; * = typical muscle histology of DMD and absent muscle dystrophin