ABSTRACT
The aim of our study is to define the most frequent etiology, clinical presentation, and predictive factors of outcome in children with acute ataxia (AA) and to determine "the red flags" in the diagnostic approach to children with AA. The retrospective study included the patients with AA treated in the institute from 2015 to 2021. The inclusion criteria were children aged 1-18 years, evolution time of ataxia within 72 h, and diagnosis made by a physician. The exclusion criteria were anamnestic data about ataxia without confirmation by any physician, chronic/persistent ataxia, and psychogenic or postictal ataxia. Clinical presentation was divided into two categories: (1) isolated cerebellar signs (CS): ataxic gait, dysmetria, dysdiadochokinesia, intention tremor, dysarthria, and nystagmus; (2) CS-plus symptoms which included CS associated with any of other symptoms such as encephalopathy (GCS < 15), awareness disturbances, vomiting, headache, a new onset limb or facial paresis, torticollis, hypotonia, and opsoclonus. The outcome was assessed at the end of hospitalization and was defined as complete or incomplete recovery. The study included 76 children, with a mean age of 5.7 years (IQR 2.1-8.3). The most frequent causes of AA were immune-mediated/infective cerebellar ataxia in 27 (35.5%), and intoxication in 24 (31.6%) cases, followed by vestibular ataxia, opsoclonus-myoclonus-ataxia syndrome, and intracranial expansive process. Forty-two (56%) cases experienced isolated CS, and 35 (46%) cases had CS-plus. Complete recovery was experienced by 62 (81.6%) patients. Analysis of some risk factors (sex, age, presence of previous infection, "cerebellar plus symptoms," and structural abnormalities/neuroimaging abnormalities) and their relation to outcome was performed. Analysis showed that presence of additional symptoms to ataxia, so called "cerebellar plus symptoms" (p = 0.002) and structural abnormalities (p < 0.001), had statistically higher frequency of poor outcome. Statistical significance remained in the univariate analysis. Significant data was included in multivariate logistic regression analysis which also showed that presence of "cerebellar plus symptoms" (p = 0.021) and structural abnormalities (p = 0.002) is related to a poor outcome. Most of the children with AA have "benign" etiology such as intoxication and post/parainfectious cerebellar ataxia with favorable outcomes. On the other hand, AA might be the first manifestation of CNS neoplasm or paraneoplastic phenomena. "The red flags" associated with cerebellar signs are limbs or facial palsy, hypotonia, GCS < 15, vomiting, opsoclonus, headache, myoclonus, visual impairment, torticollis, and vertigo. The presence of those signs and/or structural brain abnormalities was related to poor outcomes in children with AA.
ABSTRACT
OBJECTIVE: Limbic encephalitis is rare in people <18 years of age and rarely given a formal diagnosis. DESIGN: Retrospective study on presentation and outcome of children and adolescents with the clinico-radiological syndrome of limbic encephalitis tested for specific neuronal autoantibodies (Abs) over 3.5 years. SETTING: Assessment, diagnosis, treatment and follow-up at 12 neuropaediatric and neurological departments in Europe, with Abs determined in Bonn, Germany and Oxford, UK. PATIENTS: Ten patients <18 years of age who presented with a disorder mainly affecting the limbic areas of <5 years' duration with MRI evidence of mediotemporal encephalitis (hyperintense T2/FLAIR signal, resolving over time). RESULTS: Median age at disease onset was 14 years (range 3-17). Eight patients had defined Abs: one each with Hu or Ma1/2 Abs, four with high titre glutamic acid decarboxylase (GAD) Abs, two of whom had low voltage-gated potassium channel (VGKC) Abs and two with only low titre VGKC Abs. A tumour was only found in the patient with Hu Abs (a neuroblastoma). After a median follow-up of 15 months with corticosteroid or intravenous immunoglobulin treatment, starting after a median of 4 months, two patients recovered, eight remained impaired and one died. CONCLUSIONS: Limbic encephalitis is a disease that can occur in childhood or adolescence with many of the hallmarks of the adult disorder, suggesting that both result from similar pathogenic processes. Since most of the cases were non-paraneoplastic, as now also recognised in adults, more systematic and aggressive immunotherapies should be evaluated in order to improve outcomes.
