背景:桡骨缺失型血小板减少症(TAR)综合征是一种罕见疾病,估计患病率为200,000例活产婴儿中的1例。TAR与心脏和肾脏异常以及诸如CMPA的胃肠道问题有关。典型的新生儿CMPA表现为轻度不耐受,文献中很少报道更严重的不耐受导致肺炎。我们介绍了一例患有血小板减少症(TAR)综合征的男性婴儿,该婴儿患有胃和结肠肠气。
方法:一名8天大的男性婴儿,在妊娠36周时出生,诊断为TAR,他的大便里有鲜红的血。此时,他正在进行完整的配方饲料。鉴于他的粪便中持续鲜红的血液,获得了与结肠和胃肺炎一致的腹部X光片。全血细胞计数(CBC)是显著恶化的血小板减少症,贫血和嗜酸性粒细胞增多。一旦进行了肠内喂养,就可以迅速解决放射学的发现和他的血便的解决。他最终被诊断出患有牛奶蛋白过敏(CMPA)。
结论:尽管TAR患者有CMPA的报道,该患者表现为结肠和胃肺炎的严重程度是独一无二的。如果不知道CMPA与TAR的关联,这种情况可能被误诊,并导致重新引入含有配方奶粉的牛奶,导致进一步的并发症。该病例强调了在该人群中及时诊断和严重程度的重要性。
BACKGROUND: Thrombocytopenia absent radius (TAR) syndrome is a rare disease with an estimated prevalence of one in 200,000 live births. TAR is associated with cardiac and renal anomalies as well as gastrointestinal problems such as cow\'s milk protein allergy (CMPA). Typically neonates with CMPA present with mild intolerance, with few
reports in the literature of more severe intolerance resulting in pneumatosis. We present a
case of a male infant with TAR syndrome who developed gastric and colonic pneumatosis intestinalis.
METHODS: An eight-day-old male infant born at 36 weeks gestation with a diagnosis of TAR, presented with bright red blood in his stool. At this time he was on full formula feeds. Given continued bright red blood within his stool, an abdominal radiograph was obtained which was consistent with colonic and gastric pneumatosis. A complete blood count (CBC) was notable for worsening thrombocytopenia, anemia and eosinophilia. Once enteral feeds were held there was rapid resolution of the radiographic findings and resolution of his bloody stool. He was ultimately diagnosed with a CMPA.
CONCLUSIONS: Though there are
reports of CMPA in patients with TAR, the severity of this patient\'s presentation with both colonic and gastric pneumatosis is unique. Without the knowledge of the association of CMPA with TAR, this
case could have been misdiagnosed and led to reintroduction of cow\'s milk containing formula, resulting in further complications. This
case highlights the importance of a timely diagnosis and severity of CMPA in this population.