[P2-190] Clinical and genetic features of Schwartz-Jampei syndrome in a Chinese child: A follow up and literature review
[Introduction] To investigate the clinical and genetic features of a Chinese girl with Schwartz-Jampel syndrome (sJs)．
[Methodology] Reports on Schwartz-Jampel syndrome published until November of 2016 were searched and the clinical and genetic characteristics of reported case were summarized．
[Results] At 8 months after birth，the girl showed myotonia. As growing up, she had a dull facial expression，rigid lips and could not fully open her mouth，a micromandible，low-set and prominent ears，systemic muscle rigidity，there were muscular nodes formation on the limbs and gait stiffness．She had high level of creatine kinase and atlanto-axial joint subluxation on cervical CT reconstruction．She also had spontaneous myotonia-like discharges on needle eleetromyography(NEMG)．X-ray of limbs showed metaphyseal dysplasia．The patient was treated with neurologic rehabilitation and carbamazepine．The myotonia at the last follow-up at her 9 years 4 months of age was the same as at the onset．On her HSPG2 gene．two heterozygous mutations c.10776delT on exon 78 and C.5702-5G>A on intron 45 were found．This is the first Chinese patient diagnosised as Schwartz-Jampel syndrome with HSPG2 gene mutations, while 8 reports were found in English literature．The total 36mutations were known in reviewed reports．which included eleven deletion or insertion．twelve splice site，ten missense，and three nonsense mutations．
[Conclusions] Schwartz-Jampel syndrome is a rare autosomal-recessive hereditary disease appears to be slowly progressive，in which distinctive clinical features were induced by HSPG2 gene mutation．This is the first report of Schwartz-Jampel syndrome of which genetic mutations was identified in a Chinese child reported by us before.
[Methodology] Reports on Schwartz-Jampel syndrome published until November of 2016 were searched and the clinical and genetic characteristics of reported case were summarized．
[Results] At 8 months after birth，the girl showed myotonia. As growing up, she had a dull facial expression，rigid lips and could not fully open her mouth，a micromandible，low-set and prominent ears，systemic muscle rigidity，there were muscular nodes formation on the limbs and gait stiffness．She had high level of creatine kinase and atlanto-axial joint subluxation on cervical CT reconstruction．She also had spontaneous myotonia-like discharges on needle eleetromyography(NEMG)．X-ray of limbs showed metaphyseal dysplasia．The patient was treated with neurologic rehabilitation and carbamazepine．The myotonia at the last follow-up at her 9 years 4 months of age was the same as at the onset．On her HSPG2 gene．two heterozygous mutations c.10776delT on exon 78 and C.5702-5G>A on intron 45 were found．This is the first Chinese patient diagnosised as Schwartz-Jampel syndrome with HSPG2 gene mutations, while 8 reports were found in English literature．The total 36mutations were known in reviewed reports．which included eleven deletion or insertion．twelve splice site，ten missense，and three nonsense mutations．
[Conclusions] Schwartz-Jampel syndrome is a rare autosomal-recessive hereditary disease appears to be slowly progressive，in which distinctive clinical features were induced by HSPG2 gene mutation．This is the first report of Schwartz-Jampel syndrome of which genetic mutations was identified in a Chinese child reported by us before.