RESUMO
PURA syndrome is caused by heterozygous de novo pathogenic variants in PURA. It is characterized by moderate to severe neurodevelopmental disability with a wide clinical spectrum and an evolving phenotype. We present two individuals with genetically confirmed PURA syndrome who had severe neonatal signs and symptoms and a novel phenotype suggestive of neuromuscular junction pathology. We demonstrate that PURA syndrome shares features consistent with a congenital myasthenic syndrome; we thus recommend electrodiagnostic study in neonates and infants with PURA syndrome, and consideration of salbutamol as a therapeutic option.
Assuntos
Epilepsia , Deficiência Intelectual , Síndromes Miastênicas Congênitas , Humanos , Deficiência Intelectual/genética , Síndromes Miastênicas Congênitas/diagnóstico , Síndromes Miastênicas Congênitas/genética , Junção Neuromuscular , Fenótipo , Proteínas de Ligação a DNA/genética , Fatores de Transcrição/genéticaRESUMO
A6-year-oldgirl presented with acute-onset headache andfluctuating right-sided weakness.HerPedNIHSSwas13. Brain MRI/MRA showed acute pontine arterial ischemic stroke(AIS)and remote right cerebellar and thalamic infarcts.No antecedent trauma or other stroke risk factors were identified. Clinical suspicion of bow hunter syndromewas raised. CTshowed congenital C2-C3 fusion and dynamic angiogramconfirmed the diagnosis. The management challenges of this rare condition are discussed below.
Assuntos
Mucopolissacaridose II/complicações , Acidente Vascular Cerebral/etiologia , Isquemia Encefálica/etiologia , Isquemia Encefálica/patologia , Criança , Gerenciamento Clínico , Feminino , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética/efeitos adversos , Acidente Vascular Cerebral/patologia , Artéria Vertebral/patologia , Insuficiência Vertebrobasilar/complicaçõesRESUMO
A 17-years old girl presented with an 8-year history of absences with peri-oral twitching, eyelid twitching and head nodding, with poor response to anti-epileptic drugs. Video EEG revealed ictal and inter-ictal generalized spike wave discharges, and absences with peri-oral (predominant), eyelid, neck and shoulder myoclonia. There was also prominent eye closure sensitivity. Conundrums regarding epilepsy syndrome classification and pathophysiology are discussed.