A 5-year-old girl presents with severe intellectual disability, ataxic gait, unprovoked frequent laughter, and recurrent seizures. Vital signs are stable (BP 95/60, HR 88, RR 20, Temp 37°C). On examination, she has a wide-based gait and hyperreflexia; no facial dysmorphism is noted. MRI shows mild cerebral atrophy. Genetic testing reveals deletion of the maternal chromosome 15q11-q13 region. EEG demonstrates characteristic 2-3 Hz spike-and-wave patterns. Which diagnosis best explains this clinical presentation?
- A)Angelman syndromeGABARITO
- B)Prader Willi syndrome
- C)Rett syndrome
- D)Fragile X syndrome
- E)Cri du chat syndrome
Explicação
Angelman syndrome results from loss of the maternally expressed UBE3A region in the brain, often due to maternal deletion or paternal uniparental disomy. The classic phenotype includes seizures, ataxia, severe developmental delay, and inappropriate laughter. T... Ver explicação completa e trilha adaptativa →