Wacker A, Scheel-Walter H-G, Neunhoeffer F
Universitätsklinik für Kinderheilkunde und Jugendmedizin, Tübingen, Germany.
Z Geburtshilfe Neonatol. 2009 Apr;213(2):64-6. doi: 10.1055/s-0029-1214406. Epub 2009 Mar 24.
Down's syndrome is the most frequent autosomale chromosomal anomaly in newborns. In up to 10% of the cases these children develop a transient myeloproliferative disorder (TMD). Clinical symptoms are blood count disorders and raised liver enzymes. 15% of these neonates suffer from hepatic disorders. Complications can lead to effusions, liver fibrosis and multiple organ failure. In 20-30% of these cases the children develop subsequently acute myeloid leukemia. We report about a male, term newborn [birth weight 2 810 g (P10), length 49 cm (P30), head circumferance 35 cm (P50), APGAR 7/8/10] with hydrops fetalis. In the follow-up examination a pericardial effusion and increasing biventricular hypertrophic cardiomyopathy were obvious. A chemotherapy with cytarabine was initiated for five days. In further examinations cardiac recovery was observed. To the best of our knowledge this is the first case report of a term newborn with TMD and biventricular hypertrophic cardiomyopathy.
唐氏综合征是新生儿中最常见的常染色体异常疾病。高达10%的此类患儿会发展为短暂性骨髓增殖性疾病(TMD)。临床症状为血细胞计数紊乱和肝酶升高。这些新生儿中有15%患有肝脏疾病。并发症可导致积液、肝纤维化和多器官功能衰竭。在这些病例中,20% - 30%的患儿随后会发展为急性髓系白血病。我们报告了一例患有胎儿水肿的足月男婴[出生体重2810克(第10百分位数),身长49厘米(第30百分位数),头围35厘米(第50百分位数),阿氏评分7/8/10]。在后续检查中,明显出现心包积液和双心室肥厚型心肌病。开始用阿糖胞苷进行为期五天的化疗。在进一步检查中观察到心脏恢复。据我们所知,这是首例关于患有TMD和双心室肥厚型心肌病的足月新生儿的病例报告。