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1 病例报告例1:男,12岁.因面色逐渐苍白、乏力2年余入院.患儿自幼智力低下,发育迟缓.4岁会走,5岁发单音,至今不能计数.自10岁始面色逐渐苍白伴间断“感冒”、发热,近几个月乏力加重、时有鼻衄而就诊.体检:发育落后.身高98cm、营养不良.体重18kg,面容呆板.贫血貌.全身皮肤可见棕褐色色素沉着.双下肢散在针尖大小出血点.淋巴结未触及.头小、头围49cm.眼裂小,眼距不宽,耳位不低,下颌尖长.颈软,两肺少许中湿罗音.心律齐,心尖部可闻及Ⅱ级以上收缩期杂音.胸骨无压痛.肝脾未触及.双侧膝腱反射亢进.双侧巴彬斯基氏征阴性.外生殖器幼稚,双侧睾丸萎缩.实验室检查:血红蛋白27g/L;白细胞3.5×10~9/L.中性0.32.淋巴0.64.单核0. 04;血小板22×10~9/L、骨髓有核细胞增生减低.粒:红为0.4:1.粒系统增生减低,各期细胞比值均减低.红系增生减低.以晚幼红为主.淋巴细胞比值增高,占0.69.巨核细胞来见、血小板少见.浆细胞易见.可见组织嗜碱细胞.染色体检查46XY,可见环形染色体.腕关节片示骨龄正常.父母健康.非近亲婚配.其胞兄智力、发育正常.确诊FA,给予丙酸睾丸酮及支持疗法.曾因发热、出血多次住院.15岁失访.例2:男9岁.因面色逐渐苍白、间断鼻衄1年余入院.体检:发育落后(82cm);营养不良(14kg).表情痴呆,重度贫血貌.尖头?
1 case report Example 1: Male, 12 years old .As the face gradually pale, fatigue more than 2 years admitted to hospital. Children with mental retardation, stunting .4 years old will go, 5-year-old single tone, so far can not count since the age of 10 The color gradually pale with intermittent “cold”, fever, weakness in recent months aggravating, sometimes with epistaxis and treatment. Physical examination: developmental backward. Height 98cm, malnutrition. Weight 18kg, face dull. Brown pigmentation .Sleeps scattered at the tip of the lower extremity bleeding point .Not known to the lymph nodes .Small head, head circumference 49cm .Small slit, the eye is not wide, ear is not low, mandibular sharp long neck soft, a little wet in both lungs Tone, atrial apoplexy can be heard and grade Ⅱ or more systolic murmur. No tenderness in the sternum. Liver and spleen are not touched. Bilateral knee tendon reflexes. Baptist Pinsky bilateral negative. External genital infantile, bilateral testicular atrophy Laboratory tests: Hemoglobin 27g / L; WBC 3.5 × 10 ~ 9 / L. Neutral 0.32 Lymph 0.64. Mononuclear 0. 04; Platelets 22 × 10 ~ 9 / L, decreased bone marrow nucleated cells. Red 0.4: 1. Granulocyte system proliferation decreased, the ratio of cells decreased in each stage. Red hyperplasia reduced to late-red-based lymphocyte ratio increased, accounting for 0.6 9. Megakaryocytes to see, rare platelets. Plasma cells visible. Visible tissue basophils. Chromosome examination 46XY, showing the circular chromosome. Wrist showed normal bone age. Parents healthy non-relatives of marriage with their brother intelligence, normal development Confirmed FA, given testosterone propionate and supportive therapy. Have had multiple hospitalizations due to fever, bleeding 15 years of age lost. Example 2: 9-year-old male due to gradually pale, intermittent epistaxis more than 1 year admitted to hospital Physical examination: developmental lag (82cm); Malnutrition (14kg). Dementia, severe anemia appearance.