Hereditary spastic paraplegias are highly heterogeneous neurodegenerative disorders with some special mutations. We report on a patient with pescavus, distal a myotrophy, hyper extended fingers, and pectus excavatum. Neurological examination showed that he had proximal lower limbs weakness with a positive Gower sign, exaggerated lower limbs deep tendon reflexes with spasticity, distal muscle was ting, bilateral horizontal nystagmus (direction change), and positive Romberg sign. A novel mutation in SPG11/spatacsin was detected through genetic analysis. Magnetic resonance imaging showed normal whole spine and brain anatomy.
Anti-N-Methyl-D-Aspartate-Receptor (NMDA-R) encephalitis is a new autoimmune disorder, often paraneoplastic in nature, presenting with complex neuropsychiatric symptoms. Diagnosed serologically, this disorder is often responsive to immunosuppressant treatment. We here in report the case of a 56-year-old man with anti NMDA-R encephalitis presenting initially with disorientation and hallucination. He later developed bilateral ophthalmoplegia and spastic tetraparesis. Neurological examination showed mild consciousness disturbance and bilateral ophthalmoplegia on admission, spastic tetraparesis with limbs hyperreflexia. Cerebrospinal fluid samples showed mild pleocytosis. MRI disclosed some small hypersignal lesions in the FLAIR. Anti-NMDA-R antibody was diagnosed upon detection of antibody in the serum. Psychiatrists and neurologists should pay more attention to the cranial, mental and behavioral involvement due to this potentially fatal disease.
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