Prader-Willi combined syndrom with Scoliosis case

This is a female, 17years old, her parents found her spinal curve getting worsen at recent 2 years.

PE: short stature, mental retardation, learning disabilties, incomplete sexual develeopment and characteristic problems, lower muscle tone, involved urge to eat constantly which leads to obesity

The abnormality of chorosome 15

Awl---open the pedicle point
pathfinder---should be adjust the direction one more time
tape---treaded
better correction and fusion can be received from the weidged cutting the spinous process
the cortical facet joints should be broken for good fusion

[天涯子]

These disorders are involved in gene inprinting and seem related to epigenetic regulation of some down stream gene expression in the body.

[yangyangzj]

大家都好厉害！我都没有听说过！学习……

[乘风归去]

thanks previous 2 friends comments. right , I am a spine surgery clinical fellow in Boston. Its my pleasure to share more with you guys. Unfortunately I have no time to type more and more.......

[blhw72]

I guess you are a neurosurgeon. That disorder was very rare when I was practicing medicine in Shanghai. Anyway, your speciality wasn't mine. It's interesting to read as medical review.

[落花飘零]

Interesting case! Thank you for sharing. hopefully HIPPA　people won't find here, hehe.

Prader-willi syndrome is a very unique genetic disease, which is heavily tested in borad exam, that's why i remember it.

This syndrome prooves that there are functional differences between the paternal gene and the maternal gene. I am pasting some information here if you are interested.

In most cases, imprinting selectively inactivates either the maternal or paternal allele. Thus, maternal imprinting refers to tranional silencing of the maternal allele, whereas paternal imprinting implies that the paternal allele is inactivated. Imprinting occurs in the ovum or the sperm, before fertilization, and then is stably transmitted to all somatic cells through mitosis As is often the case in medicine, genomic imprinting is best illustrated by considering two uncommon genetic disorders: Prader-Willi syndrome and Angelman syndrome.

Prader-Willi syndrome is characterized by mental retardation, short stature, hypotonia, obesity, small hands and feet, and hypogonadism. In 65% to 70% of cases, an interstitial deletion of band q12 in the long arm of chromosome 15, del(15)(q11.2q13), can be detected.It is striking that in all cases the deletion affects the paternally derived chromosome 15. In contrast with the Prader-Willi syndrome, patients with the phenotypically distinct Angelman syndrome are born with a deletion of the same chromosomal region derived from their mothers. Patients with Angelman syndrome are also mentally retarded, but in addition they present with ataxic gait, seizures, and inappropriate laughter. Because of their laughter and ataxia, they are also called "happy puppets." A comparison of these two syndromes clearly demonstrates the parent of origin effects on gene function.

isn't that interesting?:)