临床推理:一个共同原因Phelan-McDermid综合症和神经纤维瘤病2型

Genetic and neuroimaging evaluation (A) Fluorescent in situ hybridization analysis depicts a normal chromosome 22 with Cosmid probe n85a3 of the SHANK3 gene in red and the control probe in green, and a ring chromosome with only green signal indicating the deletion of the SHANK3 gene at band 22q13.3 (red arrow). (B) High-resolution array comparative genomic hybridization shows all the oligo probes for chromosome 22 with a copy number loss of chromosome band 22q13.3 of 1.036 Mb (depicted as red circles). (C) Chromosome 22 ideogram shows the relative locations of SHANK3 and NF2. (D) Axial T1 postcontrast MRI brain. Red arrow points to bulky lobular, enhancing mass extending from the right cerebellopontine angle to the right internal auditory canal, consistent with a schwannoma. (E) Axial T1 postcontrast MRI spine with right lumbar paraspinal enhancing focus just medial to the right psoas muscle concerning for a small schwannoma.