We had 3 patients today, a light day. I will record 2 of them.
1. A boy with BWS present with his parent. He had macroglossia, hemihypertrophy, hypoglycemia and hyperinsulinism. He has been closely monitored by ultrasound and AFP for kidney tumor and liver tumor, respectively. His parents reported that the asymmetry of his body is getting less pronounced. He was given glucose by a G-tube on his abdomen. He was found a mass on his liver but liver tumor was ruled out by further test. His parent didn’t report developmental delay. Methylation is normal but SNP array revealed that he had homozygous paternal 11p consistent with his diagnosis. Hyperinsulinism gene was screened and it showed normal.
Because of the family history, we recommended to test his parent to see if he inherited his mutated chromosome from his parents. Meanwhile, he will be continuously monitored with AFP and ultrasound for liver and kidney tumors, as well as the level of his blood sugar.
2. A 7 month old girl was presented with her mother for her abnormal familial skeletal dysplasia of unknown etiology. Her vertebrae in neck were fused so it ends up with a short neck. Her facial feature was weird with ptosis eyelids, broad nasal bridge and bossing forehead. She had a short statue. Her development was fine otherwise. Her father is short, and has congestive heart failure with defibrillator. His vertebrae and other bones are fused. Additionally, his bones are thin, though the density is normal. We tried to think about several diseases such as spondylocarpotarsal synostosis, Ehlers-Danlos syndrome, Dubowitz syndrome. But none fit this family. In another word, we can’t come up with a clear diagnosis. The girl’s paternal aunt, reported by her mother, is normal. So regardless of practical issues, I would like set her aunt as a control and her father as a test to run a whole genome sequencing if possible to see any variation or mutation exists. This is a challenging case and we are still working on it.
