瑞英青年疑难病例阐发 | 第二季 第十集 Untangling the Thorns in the Red Blood Cell

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Untangling the Thorns in the Red Blood Cell

A 37-year-old man, a warehouse keeper, gradually developed involuntary bruxism (teeth grinding), dysphagia, dysarthria, vocalization, and involuntary upper limb movements for 5 months. His symptoms had been gradually progressing, aggravated recently by involuntary self-mutilation behaviors: tongue and lip biting. To prevent the risk of self-mutilation, he continuously held a roll of cloth in her mouth. The most prominent clinical feature were the clumsy, non-coordinated mandibular movements and occasional grimacing activities. The past history revealed that he was diagnosed with generalized tonic–clonic seizure (GTCS) at age 30, and achieving continuous remission with regular sodium valproate administration.

On neurological examination, the patient showed perioral chorea, reduced muscle tone and tendon reflex and sporadic mouth ulcers, especially accompany frequent suck-mimicking activity. The laboratory biomedical tests revealed a considerable elevation in serum creatine kinase (CK), l-lactate dehydrogenase (LDH) and alpha hydroxybutyrate dehydrogenase, especially for CK reaching up to seven-fold (1122 U/L). Intriguingly, brain magnetic resonance imaging (MRI) scanning indicated moderate anterior horn dilation of lateral ventricles and mild caudate nucleus head atrophy (Figure 1). The electromyography (EMG) test indicated mild sensory axonal neuropathy. The cognition and psychiatry scales revealed mild cognitive impairment and moderate anxiety depression. Other routine laboratory and neuroimage tests all showed negative outcomes. Because of the manifestation of prominent choreatic movements and modest neuropsychiatric anomalies, the patient further received Huntington (HD) gene panel test, which, however, revealed none pathogenic mutations.

Figure 1. MRI scanning images showing caudate nucleus head atrophy (left) and anterior horn dilation (right) of the lateral ventricles (marked by arrows).

To ascertain the diagnosis, which test is the most necessarily suggested?

A. Peripheral blood smear test

B. Skeletal muscle biopsy

C. Corneal slit lamp (Kayser-Fleischer ring)

D. Lumbar puncture

What is your diagnosis?

A. Chorea-acanthocytosis

B. Inclusion body myositis

C. Wilson’s disease

D. Creutzfeldt-Jakob disease

Touch and see the answer

References

1. Walker, R. H., Jung, H. H., and Danek, A. (2011). Neuroacanthocytosis. Handb. Clin. Neurol. 100, 141–151.

2. Walker, R. H., Liu, Q., Ichiba, M., Muroya, S., Nakamura, M., Sano, A., et al. (2006). Self-mutilation in chorea-acanthocytosis: manifestation of movement disorder or psychopathology? Mov. Disord. 21, 2268–2269.

3. Gooneratne, I. K., Weeratunga, P. N., and Gamage, R. (2014). Teaching video neuroimages: orofacial dyskinesia and oral ulceration due to involuntary biting in neuroacanthocytosis. Neurology 82, e70.

4. Dobson-Stone, C., Velayos-Baeza, A., Filippone, L. A., Westbury, S., Storch, A., Erdmann, T., et al. (2004). Chorein detection for the diagnosis of chorea-acanthocytosis. Ann. Neurol. 56, 299–302.

5. Ishida, C., Makifuchi, T., Saiki, S., Hirose, G., and Yamada, M. (2009). A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A. Acta Neuropathol. 117, 85–94.

6. Henkel, K., Danek, A., Grafman, J., Butman, J., and Kassubek, J. (2006). Head of the caudate nucleus is most vulnerable in chorea-acanthocytosis: a voxel-based morphometry study. Mov. Disord. 21, 1728–1731.

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