Case series Patients: Male, 10-month-old • Male, 8-month-old • Male, 5-month-old • Female, 4-month-old Final Diagnosis: ACTH-induced dyskinesias Symptoms: ACTH-induced dyskinesias Medication: — Clinical Procedure: — Specialty: Neurology Objective: Rare disease Background: Infantile spasms is an age-specific epilepsy syndrome that occurs during infancy and is characterized by tonic and/or flexor-extensor spasms, hypsarrhythmia on electroencephalography (EEG), and neurodevelopmental regression. Adrenocorticotropic hormone (ACTH) is considered one of the main therapies for the treatment of infantile spasms, but despite its great efficacy, it is still associated with potential adverse effects. Case Reports: Four patients previously diagnosed with infantile spasms were treated with ACTH following the usual treatment regimen. All patients developed asymmetric, involuntary movements, with phenomenology characteristic of dyskinesia. The patients did not manifest loss of consciousness, and the EEG did not show epileptic activity during those episodes. In all cases, involuntary movements disappeared after the completion of the hormonal therapy. Conclusions: The adverse effect of hormonal therapy in infantile spasms is not well known in the literature and could be mistaken as seizures, leading to inappropriate management.

Introdução: A sonolência excessiva diurna (SED) é um importante transtorno do sono e frequentemente é associado à síndrome da apneia-hipopneia obstrutiva do sono (SAHOS). É conhecido como um fator predisponente comum para acidentes, redução da produtividade, comprometimento neurocognitivo e interpessoal e/ou problemas sociais. Portanto, a detecção precoce da SED é fundamental. Objetivo: Avaliar a correlação da escala de sonolência de Epworth (ESE) com parâmetros polissonográficos nos pacientes com SAHOS. Métodos: O estudo avaliou 1264 laudos de exames de polissonografia de pacientes com SAHOS admitidos de janeiro de 2009 até dezembro de 2013 no Instituto do Sono dos Campos Gerais. Os laudos foram divididos inicialmente em grupos de acordo com a gravidade da SAHOS e em seguida de acordo com a pontuação obtida na ESE e avaliados de acordo com os resultados dos parâmetros polissonográficos. Resultados: Dos laudos analisados, 822 (65,03%) eram de pacientes do sexo masculino e 442 (34,97%) do sexo feminino. A análise da pontuação da ESE evidenciou uma relação com a SAHOS (r = 0,175, p < 0,00001). Quando analisado os subgrupos de gravidade, apenas a SAHOS grave apresentou correlação significativa com a ESE (r = 0,136, p = 0,0004). Conclusões: A escala possui correlação com a SAHOS grave. Devido à importância da detecção precoce da sonolência, a ESE pode ser utilizada como método de avaliação rápida em pacientes com a SAHOS, estimando sua gravidade e a existência de SED

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Background: West syndrome (WS) is a frequent epileptic encephalopathy associated with Down syndrome (DS). This study evaluated an outpatient protocol for WS in patients with DS who received vigabatrin (VGB) or VGB plus adrenocorticotrophic hormone. Methods: We analyzed infants treated in two neuropediatric centers from 2001–2021. We reviewed perinatal and familial history of epilepsy, spasm onset, treatment lag, electroencephalogram, neuroimaging, progression to epilepsy, and other neurological conditions. The outcomes were electroclinical resolution (ECR), relapses, and epilepsy progression. Results: Nineteen infants were included; 57.8% were male. The average spasm onset, follow-up, and treatment lag were 6.4 months, 8.15 years, and 2.33 months, respectively. Almost 74% had ECR after protocol intervention and minor epilepsy progression. Relapses occurred during combined therapy. Conclusions: The treatment protocol, especially combined therapy, was effective for WS in DS, impacting epilepsy progression and indicating the effectiveness of combined therapy to treat WS in patients with trisomy 21.

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