Abstract：
ADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which are often overlooked, particularly in patients with milder symptoms. Here, we describe the clinical course of a girl with a wide spectrum of clinical presentations, including nonspecific hematopoietic disorders, growth retardation, mild developmental delay, amblyopia, hemophagocytic lymphohistiocytosis, and verruca vulgaris, culminating in a genetic diagnosis of AMeD syndrome at 12 years of age. We also summarized the clinical manifestations of previously reported cases of AMeD syndrome. Cumulatively, 13 females and 5 males have been documented, with a cardinal triad of symptoms, aplastic anemia, short stature, and intellectual disability. Additional characteristic observations included pigmentary deposition in approximately half of the cases and skeletal difficulties in one-quarter. We propose that early diagnosis of patients who exhibit relatively mild phenotypes of skin or skeletal lesions is important for managing and improving the quality of life of patients with AMeD syndrome.
摘要：
ADH5/ALDH2缺乏症是一种罕见的遗传性综合征，以身材矮小为特征，小头畸形,智力发育迟缓,和造血功能障碍，最近被提出作为一种疾病范例。急性和严重的表现包括再生障碍性贫血，骨髓增生异常综合征,或者白血病，儿童时期需要骨髓移植。相反，非血液学表现可能表现出延长和非特异性的临床轨迹，生长障碍和发育迟缓，其中大多数经常被忽视，特别是症状较轻的患者。这里,我们描述了一个有广泛临床表现的女孩的临床过程，包括非特异性造血疾病，生长迟缓,轻度发育迟缓,弱视,噬血细胞淋巴组织细胞增生症，和寻常疣,最终在12岁时进行AMeD综合征的基因诊断。我们还总结了以前报道的AMeD综合征病例的临床表现。累计,有13名女性和5名男性的记录，有三位一体的症状，再生障碍性贫血,身材矮小,智力残疾。其他特征观察包括大约一半的病例中的色素沉积和四分之一的骨骼困难。我们建议对表现出相对轻度的皮肤或骨骼病变表型的患者进行早期诊断对于管理和改善AMeD综合征患者的生活质量很重要。
