A report of case with ischemic changes and chromosome nine abnormality

Background and Aim : : a chromosomal abnormality cause so many diseases . but chromosome nine abnormality is a rare kind of abnormality that can cause a disability In children and Hypoxia-ischemia in the perinatal period is associated disability in children. But coexisting of each other is very rare and it leads to problem in differential diagnosis . be cause of that we want to report the case with ischemic change and chromosome abnormality.Methods : this article is case report that was designed based on a CARE case report guidelines. a patient information was confidential between all researches and there is formal concent form patients parent for using this information.Results : our case is female whom was born in 2018 and she was born in 37th week mothers pregnancy . since she was born she was hospitalized. She had a hypotonicity In all muscles that because of this she have a delayed developmental milestones. In her brain MRI there are increased signal intensity on axial T2 and flair images within the cerebral white matter. The lesion are located in the deep and subcortical white matter. The appearance is hypoxic ischemic changes . there is A patent foramen ovale in her hearts echocardiography . in her face there is a ptosis . she has a laryngomalacia . in her karyotype there is a large heterochromatic region on the proximal long arm of chromosome 9 was present in all cells but she has a normal enzyme activities in biomedical testing. She received occupational therapy services for her hypotonicity and delayed milestone . she use L-carnitine and Citicoline for improving in brain function. Because of the occupational therapy interventions and these their drugs she can crawl and she can sit for a 3 second.Conclusion : : because of coexistence chromosomal changes and hypoxic ischemia there is a not definite a diagnosis for a delayed in milestone because this delayed can caused by both conditions . so in the future we suggest more gene analysis for exact changes in chromosome.

Keywords:

ischemia , chromosome nine , dyspraxia