de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray J M, Seta N
Département de pédiatrie, hôpital Necker-Enfants-Malades, Paris, France.
Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6.
Carbohydrate-deficient glycoprotein syndrome (CDGS) is a newly delineated group of inherited multisystemic disorders associated with abnormal glycosylation of a number of serum glycoproteins. Several types have been described on the basis of clinical presentation and biochemical changes of the glycosylation of serum transferrin and attributed to different enzymatic defects; their clinical presentations are fully different and a clinical heterogeneity is observed within a same type of CDGS. Patients with CDGS type la usually present with neurologic (hypotonia, strabismus and cerebellar hypoplasia) and cutaneous (inverted nipples, abnormal distribution of adipose tissue) abnormalities, together with multivisceral involvement (digestive, hepatic, cardiac, renal). However, neurologic and cutaneous symptoms may be absent, so that CDGS must be looked for in case of unexplained organ failure such as isolated liver insufficiency, cardiomyopathy, pericarditis, tubulopathy, nephrotic syndrome, vascular accident or retinitis pigmentosa. Patients with CDGS type Ib present with liver disease, enteropathy and hypoglycemia without neurologic involvement. These patients are successfully treated with oral mannose administration emphasizing the importance of making the diagnosis. Patients with CDGS type Ic present with mild psychomotor retardation and seizures. Patients with CDGS type II have psychomotor retardation association with severe gastrointestinal disorder, dysmorphic features and abnormal electroretinogram. Other types (III, IV) are less clearly defined and the clinical presentation includes convulsive encephalopathy. Biological abnormalities such as mild hepatic cytolysis, hematologic and hormonal abnormalities are consistently observed in CDGS type I, as well as renal hyperechogeneity, leading one to look for this syndrome when they are associated. Until now, only four enzymatic deficiencies have been identified (types Ia, Ib, Ic, II).
糖蛋白缺乏综合征（CDGS）是一组新划定的遗传性多系统疾病，与多种血清糖蛋白的糖基化异常有关。根据临床表现以及血清转铁蛋白糖基化的生化变化，已描述了几种类型，并归因于不同的酶缺陷；它们的临床表现完全不同，并且在同一类型的CDGS中观察到临床异质性。Ia型CDGS患者通常表现出神经学异常（肌张力减退、斜视和小脑发育不全）和皮肤异常（乳头内陷、脂肪组织分布异常），以及多脏器受累（消化、肝脏、心脏、肾脏）。然而，可能不存在神经学和皮肤症状，因此在出现不明原因的器官衰竭时，如孤立性肝功能不全、心肌病、心包炎、肾小管病、肾病综合征、血管意外或色素性视网膜炎，必须排查CDGS。Ib型CDGS患者表现为肝病、肠病和低血糖，无神经受累。这些患者通过口服甘露糖治疗成功，这强调了做出诊断的重要性。Ic型CDGS患者表现为轻度精神运动发育迟缓及癫痫发作。II型CDGS患者存在精神运动发育迟缓，并伴有严重的胃肠道疾病、畸形特征和异常视网膜电图。其他类型（III型、IV型）的定义不太明确，临床表现包括惊厥性脑病。在I型CDGS中始终观察到生物学异常，如轻度肝细胞溶解、血液学和激素异常，以及肾脏高回声，当这些异常同时出现时，应考虑该综合征。到目前为止，仅确定了四种酶缺陷（Ia型、Ib型、Ic型、II型）。
