Astrocitopatía autoinmune asociada a proteína ácida fibrilar glial / Autoimmune glial fibrillary acidic protein astrocytopathy

Resumen La astrocitopatía autoinmune asociada a proteína ácida fibrilar glial (GFAP) fue descripta por primera vez en el año 2016. La manifestación clínica más frecuente es la meningoencefalomielitis asociado a un patrón imagenológico característico que permite la sospecha diagnóstica y su confirmación mediante la determina ción de los anticuerpos en suero y en líquido cefalorra quídeo (LCR). Presentamos el caso de una paciente de 35 años con compromiso del sistema nervioso a nivel central y periférico y un reciente diagnóstico de cáncer de tiroides, que frente al cuadro clínico compatible de meningoencefalomielitis, los hallazgos característicos en resonancia magnética y luego de la exclusión de enfermedades alternativas, finalmente se arribó al diag nóstico por la determinación positiva de anti GFAP en LCR. Realizó tratamiento quirúrgico y con iodo radio activo por su tumor hallado y posteriormente recibió tratamiento con corticoides con mejoría parcial de la signo-sintomatología neurológica. Destacamos que en esta enfermedad las imágenes por resonancia magnética presentan un patrón característico, aunque no patog nomónico, siendo necesario considerar otras causas. Ante una alta sospecha de esta entidad por el cuadro clínico e imagenológico, es conveniente realizar dosaje del anticuerpo en LCR, dada la mayor sensibilidad y especificidad en comparación con su pesquisa en suero, con el fin de arribar al diagnóstico etiológico definitivo como en el caso clínico presentado.

Abstract Autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy was described for the first time in 2016. The most common clinical manifestation is menin goencephalomyelitis associated with a characteristic imaging pattern that allows diagnostic suspicion and its confirmation through determination of antibodies in serum and cerebrospinal fluid (CSF). We present a case of a 35-year-old patient with involvement of the central and peripheral nervous system and a recent diagnosis of thyroid cancer, which compared to the compatible clinical picture of meningoencephalomyelitis, characteristic findings on MRI and after the exclusion of alternative pathologies, we finally arrived at the diagnosis by the positive determination of anti-GFAP in CSF. The patient underwent surgical treatment and radioactive iodine for the diagnosed thyroid tumor and she subsequently received treatment with corticosteroids with partial improvement of the neurological symptomatology. We emphasize that in this pathology the MRI images usually depict a characteristic pattern, although not pathogno monic, it is necessary to consider other causes. Before a high suspicion of this entity due to the clinical and imaging picture, it is convenient to measure the anti body in CSF, given the greater sensitivity and specificity compared to its serum screening, in order to arrive to the definitive etiological diagnosis as it was done in the clinical case that is presented.

Clinical features of autoimmune glial fibrillary acidic protein astrocytopathy in children: an analysis of 34 cases / 中国当代儿科杂志

OBJECTIVES@#To study the clinical features of children with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).@*METHODS@#A retrospective analysis was performed on the medical data of 34 children with GFAP-A who attended the Department of Neurology, Children's Hospital of Chongqing Medical University, from January 2020 to February 2022. The medical data included clinical manifestations, cerebrospinal fluid features, imaging examination results, treatment, and prognosis.@*RESULTS@#The median age of onset was 8.4 (range 1.9-14.9) years for the 34 children with GFAP-A. The main clinical manifestations included headache (50%, 17/34), fever (47%, 16/34), visual impairment (47%, 16/34), and disturbance of consciousness (44%, 15/34). Abnormal cerebrospinal fluid results were observed in 19 children (56%, 19/34), among whom 8 children had positive autoantibody. The children with overlap syndrome had significantly higher recurrence rate and rate of use of immunosuppressant than those without overlap syndrome (P<0.05). About 77% (24/31) of the children had good response to immunotherapy, and only 1 child had poor prognosis.@*CONCLUSIONS@#Children with GFAP-A often have non-specific clinical symptoms and show good response to immunotherapy. Children with overlap syndrome have a high recurrence rate, and early application of immunosuppressants may help to prevent recurrence and alleviate symptoms.

Clinical Features of Multicenter Autoimmune Glial Fibrillary Acidic Protein Astrocytosis / 罕见病研究

  Objective  To investigate the clinical features of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.  Methods  We collected and analyzed the clinical and laboratory data and obtained the clinical characteristics of diagnosis and treatment from fifteen patients with positive GFAP antibody tested by cerebrospinal fluid and diagnosed autoimmune GFAP astrocytopathy by the multi-centers.  Results  The mean age of the first onset of autoimmune GFAP astrocytopathy was 39.73 years old (range 4-65 years), with no significant gender difference. In terms of clinical manifestations, we found the whole brain symptoms including abnormal mental behavior, disturbance of consciousness, epileptic attack accounting for more than 50, , meningitis accounting for 66.7%, myelitis (53.3%), limb tremor (53.3%), vision loss (33.3%); systemic symptoms including fever(100%) and fatigue(86.7%). 46.7% of patients were initially diagnosed with tuberculous meningoencephalitis and were treated with diagnostic antituberculous therapy. The MRI showed 46.7% of patients showed brain linear perivascular radial gadolinium enhancement in the white matter perpendicular to the ventricle.  Conclusions  Autoimmune GFAP astrocytopathy are acute or subacute dieases and the main clinical features include encephalitis, meningitis, myelitis and optic neuritis. They are likely to be misdiagnosed as tuberculous meningoencephalitis and can manifest progressive loss of consciousness in early phase, which is even life threatening.

Clinical characteristics of 11 children with autoimmune glial fibrillary acidic protein astrocytopathy / 中华神经医学杂志

Objective:To explore the clinical characteristics of autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy in children.Methods:Eleven children with autoimmune GFAP astrocytopathy with positive GFAP antibody in serum and/or cerebrospinal fluid were collected in our hospital from January 2020 to February 2022. The clinical data of these children were analyzed retrospectively.Results:Among the 11 children, there were 6 males and 5 females, and the age of onset ranged from 3 years old and 10 months to 12 years old. The main clinical manifestations included fever ( n=8), headache ( n=5), vomiting ( n=6), ataxia ( n=2), limb weakness ( n=4), cranial nerve involvement ( n=6), disturbance of consciousness ( n=4), abnormal mental behavior ( n=3), seizures ( n=1), and autonomic nervous dysfunction ( n=3). Meningoencephalomyelitis was noted in one child, meningoencephalitis in one, encephalomyelitis in 7, and encephalitis was noted in two children. MRI showed brain involvement in all children, spinal cord involvement in 8 children, and optic nerve involvement in one child. Abnormal enhancement in different parts of cerebral lobe, meninges, sulcus, optic nerve and spinal cord were found in 3 children. Four children were positive for GFAP antibody in cerebrospinal fluid and serum, 3 patients were positive for GFAP antibody in cerebrospinal fluid, and 4 children were positive for GFAP antibody in serum. Four children were complicated with multiple antibodies, mainly myelin oligodendrocyte glycoprotein antibody. Tumor screening was all negative. All of the 11 children responded to immunotherapy, but two of them relapsed; one left visual and motor function impairment. Conclusions:The clinical manifestations of autoimmune GFAP astrocytopathy in children are diverse and non-specific, and the lesions mainly involve meninx, brain, spinal cord and optic nerve. Most children respond well to glucocorticoid treatment and have a good prognosis; but there is still a certain recurrence rate, and some children may leave neurological damage.

Clinical characteristics of autoimmune glial fibrillary acidic protein astrocytopathy / 中华神经医学杂志

Objective:To analyze the clinical features of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).Methods:A retrospective analysis was performed. Data of 14 patients with GFAP-A, admitted to Department of Neurology, Chenzhou First People's Hospital from December 1, 2020 to May 1, 2022, were collected.Results:The mean age of these 14 patients was (46±31) years, and the male patients were more than female ones (10∶4). All patients had acute onset, and the main clinical symptoms included dizziness and headache ( n=10), fever ( n=8), urination and defecation function disturbance ( n=5), mental and behavioral abnormality ( n=4), limb weakness ( n=4), and tremor ( n=3). No tumors were found; 8 patients were with hyponatremia. Twelve patients responded well to hormone and/or immunosuppressive therapy; 2 patients refused corticosteroid and/or immunosuppressive therapy for personal reasons, and their condition did not improve at discharge. Conclusion:In these GFAP-A patients, relatively heterogeneous clinical manifestations are noted; many are complicated with hyponatremia, and some have clinical manifestations similar to nervous system infectious diseases; the prognosis is good after immunotherapy.

Autoimmune glial fibrillary acidic protein astrocytopathy / 中国小儿急救医学

Autoimmune glial fibrillary acidic protein astrocytopathy(GFAP-A) is a novel form of autoimmune meningo-encephalitis resulted from auto-antibodies to GFAP, which may involve meninges, brain, spinal cord and optic nerves.Clinical presentations and outcomes in children are similar with those in adults.Compared with adults with GFAP-A, autonomic dysfunction, brain stem dysfunction or co-existing NMDAR encephalitis are more frequently in children, whereas malignancy and relapse are more commonly seen in the adults.GFAP-IgG level detected in cerebrospinal fluid is a specific biomarker of autoimmune GFAP-A.Corticosteroid-responsiveness is also a hallmark of autoimmune GFAP-A.