RESUMO
BACKGROUND: Progressive Myoclonic Epilepsy (PME) is a group of rare diseases that are difficult to differentiate from one another based on phenotypical characteristics. CASE REPORT: We report a case of PME type 7 due to a pathogenic variant in KCNC1 with myoclonus improvement after epileptic seizures. DISCUSSION: Myoclonus improvement after seizures may be a clue to the diagnosis of Progressive Myoclonic Epilepsy type 7.
Assuntos
Epilepsias Mioclônicas Progressivas , Convulsões , Humanos , Epilepsias Mioclônicas Progressivas/complicações , Epilepsias Mioclônicas Progressivas/diagnóstico , Convulsões/diagnóstico , Convulsões/complicações , Convulsões/etiologia , Convulsões/tratamento farmacológico , Mioclonia/diagnóstico , Mioclonia/etiologia , Mioclonia/complicações , Mioclonia/tratamento farmacológico , Masculino , Canais de Potássio Shaw/genética , Feminino , Eletroencefalografia/métodosRESUMO
BACKGROUND: Neuroophthalmological phenotypical particularities of SCA3. PHENOMENOLOGY: Eyelid opening apraxia and asymmetrical blepharospasm. EDUCATIONAL VALUE: To illustrate the phenomenology for purposes of education.
Assuntos
Apraxias , Blefarospasmo , Doença de Machado-Joseph , Apraxias/etiologia , Blefarospasmo/complicações , Pálpebras , Humanos , Doença de Machado-Joseph/complicaçõesRESUMO
Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis, recurrent hypoglycemia, and cardiac defects. Only 26 cases (16 families) of ADK deficiency have been published since its identification in 2011. Vascular abnormalities in cervical arteries and cerebral stroke have never been reported in this condition. Here, we describe two patients with ADK deficiency and vascular tortuosity leading to stroke in one of them. ADK deficiency is a rare inborn error of methionine metabolism with a complex phenotype that might be associated with cerebrovascular abnormalities and stroke.
