neuropsychomotor development delay since birth Teaching Neuro Images Neurology Resident and Fellow Section 2016 American Academy of Neurology A 18yearold man presented with neuropsychomotor ID: 784645
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Slide1
A 18-year-old man presented with neuropsychomotor development delay since birth
Teaching NeuroImages
NeurologyResident and Fellow Section
© 2016 American Academy of Neurology
Slide2A 18-year-old man presented with neuropsychomotor development delay since birth associated with multiple nevi and basal cell carcinomas which appeared in the third year of life (Figure 1). Family history was unremarkable.
Brain CT and MRI are attached (Figure 2).
Oliveira GP et al.
© 2016 American Academy of NeurologyVignette
Slide3Imaging
Oliveira GP et al.
© 2016
American Academy of Neurology
Slide4Imaging
Oliveira GP et al.
© 2016
American Academy of Neurology
Slide5Final diagnosis:
Gorlin-Goltz syndrome (GGS)
GGS (OMIM:109400) is an unusual autosomal dominant disorder caused by mutations in one of the three genes: PTCH1, PTCH2 or SUFU1 .
Around 5-10% of GGS patients develop medulloblastoma or meningiomas2.GGS is characterized by multiple BCC, jaw cyst, palmar and plantar pits, cerebral sickle calcification and skeletal malformation2 .Oliveira GP et al.
© 2016
American Academy of Neurology