背景:染色体Xp21缺失综合征是一种罕见的X连锁隐性缺陷,是多基因缺失的结果,包括甘油激酶(GK)及其邻近基因,肌营养不良蛋白,导致杜氏肌营养不良(DMD),和NR0B1,导致先天性肾上腺发育不全(CAHhttps://www。omim.org/entry/300200)。患者通常表现为甘油激酶缺乏症,先天性肾上腺发育不全,杜氏肌营养不良症,高甘油血症,和甘油尿症,与DMD和/或CAH相关,生长失败,肌病,骨质疏松,智力迟钝,和精神运动迟钝.
方法:这里,我们报道了一个来自伊拉克的3岁男孩,他有血性腹泻,食物不耐受和腹部痉挛,肾上腺功能不全,反复发烧,结核病(TB)感染,宫颈脓肿,口疮,宫颈和纵隔淋巴结病,发育迟缓,和隐匿的睾丸.他的父母没有血缘关系,没有家族疾病史。下一代测序显示X染色体中存在半合子缺失。
结论:X染色体的大部分缺失很可能可以解释该患者的临床表现。在诊断肾上腺功能不全后应考虑Xp21的连续基因缺失综合征,以有效治疗代谢并发症。
BACKGROUND: Chromosome Xp21 deletion syndrome is a rare X-linked recessive defect that occurs as a result of multiple gene deletions, including Glycerol kinase (GK) and its neighboring genes, dystrophin, which causes Duchenne muscular dystrophy (DMD), and NR0B1, which causes congenital adrenal hypoplasia (CAHhttps://www.omim.org/entry/300200). Patients usually present with glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy, hyperglycerolemia, and glyceroluria, associated with DMD and/or CAH, growth failure, myopathy, osteoporosis, mental retardation, and psychomotor retardation.
METHODS: Herein, we report a 3-year- old boy from Iraq who had bloody diarrhea, food intolerance and abdominal cramp, adrenal insufficiency, recurrent fevers, tuberculosis (TB) infection, cervical abscess, oral thrush, cervical and mediastinal lymphadenopathies, developmental delay, and undescended testis. His parents are non-consanguine and had no family history of diseases. Next generation sequencing demonstrated a hemizygote deletion in chromosome X.
CONCLUSIONS: Loss of a large part of the X-chromosome most likely can explain the clinical findings of this patient. Contiguous gene deletion syndrome in Xp21 should be considered after diagnosing adrenal insufficiency to treat metabolic complications efficiently.