A 4 year old girl has focal seizures and developmental delay. Examination shows a dark red vascular lesion over the forehead and upper eyelid in the distribution of the ophthalmic branch of the trigeminal nerve. CT of the head shows gyriform intracranial calcifications. Which embryologic abnormality most likely underlies this condition?
- A)Somatic mutation causing cerebellar hemangioblastomas
- B)Persistence of vascular malformations involving leptomeninges and faceGABARITO
- C)X linked mutation causing peroxisomal dysfunction
- D)Loss of heterozygosity at the NF2 locus
- E)Failure of neural crest migration causing absent enteric ganglia
Explicação
Persistence of vascular malformations involving leptomeninges and face is correct. Sturge Weber syndrome is a sporadic neurocutaneous disorder characterized by facial port wine stain, leptomeningeal angiomas, seizures, intellectual disability, and tram track c... Ver explicação completa e trilha adaptativa →