ABSTRACT
Objective:To analyse the clinical features of encephalitis patients with antibodies against the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).Methods:Three anti-AMPAR encephalitis patients diagnosed in Tangdu Hospital, the Air Force Military Medical University between January 2020 and May 2021 were retrospectively reviewed. The clinical symptoms, supplementary examination, treatment options and outcomes with knowledge from literature were summarized in this study.Results:Three patients aging from 12 to 70 years presented with symptoms ranging from cognitive impairment, personality change to headache and paralysis. The lung occupying lesion was pathologically proved to be small cell lung cancer in case 1. Antibody to AMPAR (AMPAR-ab) was positive in both blood and cerebrospinal fluid of case 1, with coexisting antibodies against sex-determining region of Y chromosome-related high mobility group box 1 in blood, and the symptoms persisted but did not recur following therapy with corticosteroids. AMPAR-ab was detected only in serum in case 2, with the lesion located in both frontal and temporal lobes, centrum semiovale and lateral ventricle, combined with classic imaging features of intracranial hypotension, and the syndrome was partially improved following treatment with corticosteroids. The lesions were located in the pons and middle cerebellar peduncle, accompanied by cerebellar atrophy in case 3. Spinal cord magnetic resonance imaging showed long hyperintense lesions involving the cervical and thoracic cord, extending from C 2 to Th 10 level on T 2-weighted images. AMPAR-ab was positive in both serum and cerebrospinal fluid. And the symptoms improved significantly following treatment with corticosteroids and intravenous immunoglobulin. Conclusions:The clinical manifestations of anti-AMPAR encephalitis are highly heterogeneous, and brainstem and spinal cord can also be involved in addition to the limbic system, accompanied by brain atrophy. Combining with concurrent antibodies, especially the intracellular antibodies, malignancy needs to be closely monitored; the immunotherapy is effective and the presence of tumor superimposed with multiple antibodies may be associated with poor prognosis.
ABSTRACT
Objective To discuss the characteristics of clinical presentation,neuroimaging and genetics in a Chinese family of oculeptomeningeal amyloidosis (OLMA) associated with the transthyretin (TTR) Leul2Pro mutation.Methods Clinical characteristics of the pedigree and peripheral blood samples of an OLMA patient with TTR Leu12Pro mutation were collected from Tangdu Hospital on September 25,2015.Firstly,exon detection was performed on the proband and the family validation of her father and sister was carried out.The clinical,neuroimaging and genetic characteristics of the disease were analyzed.Results A 36-year-old right-handed woman was suffered recurrent episodes of slurred speech with right-sided weakness.She presented initi.ally with headache,autonomic dysfunction,visual and hearing loss.Magnetic resonance imaging showed extensive leptomeningeal enhancement,and cerebrospinal fluid analysis showed a raised protein of 1566.54 mg/L.The examination of the both eyes showed dry eye,vitreous opacity,and mild cataract.The proband and her sister,the sister's eldest daughter,the proband's son showed c.95T＞C mutation in exon2 of TTR gene and Leu12Pro mutation in TTR protein.Conclusions OLMA should be suspected if central nervous system symptoms are observed in combination with one or more of the following:family history of a neuropathy,autonomic dysfunction,cardiac hypertrophy,hear or ocular involvement,gadolinium-enhanced magnetic resonance imaging of the brain and spine revealing diffuse leptomeningeal enhancement,lumbar puncture demonstrating elevated protein without evidence of malignant cells on cytology.Genetic testing for pathogenic mutation in TTR gene is helpful for diagnosis of OLMA.