MD, Erasmus Medical Center/Sophia Children's Hospital, Dr Molewaterplein 60, Room Sb-2603, 3015 GJ Rotterdam, The Netherlands.
J Clin Endocrinol Metab. 2013 Oct;98(10):3932-8. doi: 10.1210/jc.2013-2491. Epub 2013 Aug 8.
GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.
We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH.
Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels.
Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.
GH 治疗已成为治疗小胎龄出生小样儿（SGA）矮小儿童的常用生长促进疗法。在某些疾病中，GH 治疗是禁忌的，例如染色体断裂综合征。Bloom 综合征是一种罕见的染色体断裂综合征，其特征为严重的产前和产后生长缺陷、光敏性面部红斑、免疫缺陷、智力迟钝或学习障碍、内分泌疾病以及发展为多种癌症的倾向。
我们报告了 2 例 Bloom 综合征患者，以说明其临床表现的多样性。他们最初因 SGA 出生和 Silver Russell 综合征而被诊断为身材矮小，并接受了 GH 治疗。
这两个患者都表现出产前和产后生长失败，但没有明显的其他与 Bloom 综合征相关的特征。光敏性皮肤损伤仅在青春期出现，且程度轻微。此外，两个孩子在开始接受 GH 治疗时都具有正常的免疫球蛋白水平、正常的发育且没有内分泌疾病的迹象。两个患者都表现出类似 Silver Russell 综合征的畸形特征。值得注意的是，在 GH 治疗期间，IGF-1 水平升高至超过 3.5 个标准差，而 IGF 结合蛋白-3 水平正常。
SGA 出生的矮小儿童是一个异质性群体。在接受标准 GH 治疗时，如果 IGF-1 水平大于 2.5 个标准差且 IGF 结合蛋白-3 水平正常，而具有近亲生育史、畸形特征（尤其是类似 Silver Russell 综合征）、皮肤异常和/或 GH 治疗中 IGF-1 水平升高的儿童，应考虑 Bloom 综合征的可能性。
