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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)
Hemolytic Anemia Reticulocyte cell count
  Low haptoglobin
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