PDF(Pubmed)
Abstract：
BACKGROUND: 22q13.3 deletion syndrome is a well-known syndrome characterized by typical clinical findings including neonatal hypotonia, absent or severely delayed speech, intellectual disability, and other various features, and detection of a heterozygous deletion of chromosome 22q13.3 with the involvement of at least part of SHANK3. It is reported that 10% to 29% of patients with 22q13.3 deletion syndrome present lymphedema. Protein-losing enteropathy (PLE) has never been reported in 22q13.3 deletion syndrome.
UNASSIGNED: The patient presented to our institution for refractory hypoalbuminemia and chronic lymphedema in both legs.
METHODS: The patient manifested intellectual disability, absent speech, tooth grinding, dysmorphic face, and abnormal hands and toenails. Copy-number variation sequencing confirmed the maternal deletion in 22q13.31-q13.33 (chr22:46285592-51244566, hg19). The patient was genetically diagnosed with 22q13.3 deletion syndrome.
METHODS: Low-fat diets and medium-chain triglycerides supplements were prescribed. The patient was recommended to wear compression garments and elevate legs.
RESULTS: The symptom of diarrhea was resolved, but hypoalbuminemia persisted. Lower extremities lymphedema was gradually becoming severe.
CONCLUSIONS: Primary lymphedema and PLE can occur simultaneously in a patient with 22q13.3 deletion syndrome. The 2 phenotypes could share the same genetic etiology of congenital lymphatic abnormalities. CELSR1 deletion may play a role in lymphatic dysplasia. The case also provides additional proof of the pathogenic effect of CELSR1 on hereditary lymphedema.
UNASSIGNED: The patient presented to our institution for refractory hypoalbuminemia and chronic lymphedema in both legs.
METHODS: The patient manifested intellectual disability, absent speech, tooth grinding, dysmorphic face, and abnormal hands and toenails. Copy-number variation sequencing confirmed the maternal deletion in 22q13.31-q13.33 (chr22:46285592-51244566, hg19). The patient was genetically diagnosed with 22q13.3 deletion syndrome.
METHODS: Low-fat diets and medium-chain triglycerides supplements were prescribed. The patient was recommended to wear compression garments and elevate legs.
RESULTS: The symptom of diarrhea was resolved, but hypoalbuminemia persisted. Lower extremities lymphedema was gradually becoming severe.
CONCLUSIONS: Primary lymphedema and PLE can occur simultaneously in a patient with 22q13.3 deletion syndrome. The 2 phenotypes could share the same genetic etiology of congenital lymphatic abnormalities. CELSR1 deletion may play a role in lymphatic dysplasia. The case also provides additional proof of the pathogenic effect of CELSR1 on hereditary lymphedema.
摘要：
背景：22q13.3缺失综合征是一种众所周知的综合征，其特征是典型的临床表现包括新生儿张力减退，缺席或严重延迟发言，智力残疾,和其他各种功能，并检测到染色体22q13.3的杂合缺失，至少部分涉及SHANK3。据报道，22q13.3缺失综合征患者中有10％至29％存在淋巴水肿。在22q13.3缺失综合征中从未报道过蛋白丢失性肠病（PLE）。
■患者因难治性低白蛋白血症和双腿慢性淋巴水肿而就诊。
方法：患者表现为智力障碍，缺席演讲,磨齿,异形面，异常的手和脚趾甲.拷贝数变异测序证实了22q13.31-q13.33(chr22:46285592-51244566,hg19)中的母体缺失。该患者被基因诊断为22q13.3缺失综合征。
方法：规定了低脂饮食和中链甘油三酯补充剂。建议患者穿压缩服装并抬高腿。
结果：腹泻症状得到缓解，但低蛋白血症持续存在。下肢淋巴水肿逐渐加重。
结论：原发性淋巴水肿和PLE可同时发生在22q13.3缺失综合征患者中。这两种表型可能具有相同的先天性淋巴异常的遗传病因。CELSR1缺失可能在淋巴发育不良中起作用。该病例还提供了CELSR1对遗传性淋巴水肿的致病作用的额外证据。
■患者因难治性低白蛋白血症和双腿慢性淋巴水肿而就诊。
方法：患者表现为智力障碍，缺席演讲,磨齿,异形面，异常的手和脚趾甲.拷贝数变异测序证实了22q13.31-q13.33(chr22:46285592-51244566,hg19)中的母体缺失。该患者被基因诊断为22q13.3缺失综合征。
方法：规定了低脂饮食和中链甘油三酯补充剂。建议患者穿压缩服装并抬高腿。
结果：腹泻症状得到缓解，但低蛋白血症持续存在。下肢淋巴水肿逐渐加重。
结论：原发性淋巴水肿和PLE可同时发生在22q13.3缺失综合征患者中。这两种表型可能具有相同的先天性淋巴异常的遗传病因。CELSR1缺失可能在淋巴发育不良中起作用。该病例还提供了CELSR1对遗传性淋巴水肿的致病作用的额外证据。
