Table 3 |
|
|
Contiguous Gene Syndrome (including McLeod Syndrome) complicating CGD |
|
|
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 |
|
|
|
|
CPK = creatine phosphokinase; EMG/NCS = electromyography and nerve conduction study CT = computed tomography; MRI = magnetic resonance imaging; EEG = electroencephalography ECHO = echocardiography (transthoracic or transesophageal); EPS = electrophysiological studies DMD = Duchenne muscular dystrophy; * = typical muscle histology of DMD and absent muscle dystrophin |
|
|
Watkins et al. Clinical and Molecular Allergy 2011 9:13 doi:10.1186/1476-7961-9-13 |
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