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[A case of chorea-acanthocytosis with dilated cardiomyopathy and myopathy]
Y Kageyama1, Y Kodama, M Tadano
1Department of Neurology, Hyogo Prefectural Amagasaki Hospital.
Insights
Chorea-acanthocytosis (CA) can present with heart and muscle disease, mimicking McLeod syndrome (McS). Differentiating requires careful evaluation of Kell blood antigens and repeated blood tests for acanthocytosis.
Area of Science:
- Neuroscience
- Genetics
- Cardiology
Background:
- Chorea-acanthocytosis (CA) is a rare neurodegenerative disorder.
- McLeod syndrome (McS) shares overlapping clinical features with CA.
Observation:
- A 40-year-old male presented with progressive gait disturbance, neurological deficits including chorea and myopathy.
- Cardiac involvement manifested as dilated cardiomyopathy, and muscle biopsy revealed myopathic changes.
- Peripheral nerve involvement and acanthocytosis were confirmed after repeated examinations.
Findings:
- The patient was initially suspected to have McS but lacked Kell antigen abnormalities and XK gene mutations.
- Diagnosis of CA was established based on clinical, laboratory, and pathological findings.
- Acanthocytosis can be intermittent, necessitating repeated blood sampling for diagnosis.
Implications:
- Accurate differentiation between CA and McS is crucial for patient management.
- Evaluation of Kell blood system is vital for distinguishing between these conditions.
- This case highlights the diagnostic challenges and importance of thorough investigation in neurodegenerative disorders with systemic manifestations.
Abstract:
We report a patient of chorea-acanthocytosis (CA), presenting with dilated cardiomyopathy and myopathy. The patient, 40-year-old male, was seen in our clinic because of progressive gait disturbance. Neurologically, he had chorea, tic, dystonia, diminished tendon reflexes and mild muscular atrophy and weakness. Serum creatine kinase level was elevated to 5.514 IU/l, MRI study showed atrophy of the putamen and caudate nucleus. Peripheral nerve involvement was confirmed pathologically and electrophysiologically. Acanthocytosis was found after repeated blood examinations. Furthermore, he had dilated cardiomyopathy on echocardiogram and cardiac muscle biopsy, and his muscle biopsy taken from gastrocnemius indicated myopathic changes with fiber necrosis. From these clinical and laboratory data, he was suspected to have McLeod syndrome (McS). However, he had normal expression of Kell antigens, and direct sequence of XK gene from genomic DNA sample showed no mutations. Accordingly, he was diagnosed as having CA. As CA shares the similar clinical and laboratory features with McS except Kell antigens, the evaluation of Kell blood system is crucial for differential diagnosis. As seen in our patient, blood sampling should be repeated for identification of acanthocytosis, because the finding is not always clearly present.