Prader-Willi Syndrome Coincident with DiGeorge Syndrome
Prader-Willi Syndrome Coincident with DiGeorge Syndrome
复制标题
普拉德威利综合症与迪乔治综合症同时发生
DOI：
10.1007/s12098-019-03137-6
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发表时间：
2019-12
影响因子：
4.3
通讯作者：
Zou Chao-Chun
中科院分区：
文献类型：
--
作者：
Zou Xin-Yi;Chao Yun-Qi;Zeng Lin-Hui;Zou Chao-Chun
致编辑：普瑞德-威利综合征（PWS）是一种罕见的遗传疾病，由父系遗传的染色体15q11上的基因缺乏表达引起。2-q13地区。主要表现为张力减退、进食困难、嗜食、肥胖、性腺功能减退、发育迟缓、认知障碍等，患病率为1/10000 ~ 1/30000[1,2]。PWS合并其他染色体异常的报道很少。在这里，我们报告一个8岁男孩患有PWS和DiGeorge综合征（DS）。他是在子宫结疤的情况下通过剖宫产足月出生的，出生时体重为2.8公斤。出生后因肌张力过低、喂养困难住院，鼻胃喂养26 d，因肺炎再次住院2次。3月龄左右头起，6月龄不能坐，8月龄时体长60 cm (< 3SD)，体重5.8 kg （< 3SD）。头多畸形、杏仁状小眼、上颚高、嘴角下垂、皮肤白皙、张力低下、腹股沟斜疝、手脚小、左侧隐睾、阴茎小。流式细胞术显示CD3+ 36.3%（正常范围，48% ~ 75%），CD3+CD4+ 25.4%（正常范围，33% ~ 58%），CD3+CD8+ 8.4%（正常范围，11% ~ 25%）；CD3- cd19 +占52.0%（正常范围，14% ~ 39%），CD3-(CD16+/CD56+)占7.6%（正常范围，2% ~ 14%）。发现心脏不畅通。钙离子、磷、甲状腺功能、甲状旁腺激素、胰岛素样生长因子-1、TORCH抗体、肾功能、血气及电解质、氨、乳酸、气相色谱-质谱（GC/MS）筛查、脑MRI均正常或阴性。MS-PCR显示SNRPN-S1位点出现高甲基化，而甲基化特异性多重连接依赖探针扩增（MS-MLPA）显示正常拷贝，15q11-q13区域出现高甲基化，提示PWS。同时，染色体微阵列（CMA）分析显示22q11缺失2.54 Mb。21(18919528-21460595)，覆盖了DS的关键区域。DS是一种常见的新生儿微缺失病，发病率约为1/3000-4000[3,4]。然而，据我们所知，这是第一例PWS同时伴有DS的病例。DS的典型特征(例如：虽然低T淋巴细胞、复发性肺炎和腹股沟疝可能更提示退行性椎体滑移的特征，但没有出现低钙血症、肾异常和癫痫发作)。患者表现出明显的PWS特征，包括肌张力过低、进食困难、发育迟缓、畸形相、皮肤白皙、手脚小、隐睾、阴茎小。本病例提示临床特征与PWS相似的患者，PWS合并另一染色体异常也应考虑。
To the Editor: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from lack of expression of genes on the paternally inherited chromosome 15q11. 2-q13 region. It is characterized by hypotonia, feeding difficulty, hyperphagia, obesity, hypogonadism, developmental delay and cognitive impairment with a prevalence of 1/10000–1/30000 [1, 2]. PWS coincident with other chromosome abnormalities is rarely reported. Here, we report an 8-mo-old boy with PWS and DiGeorge syndrome (DS). He was born full-term by cesarean delivery as scarred uterus with a birth weight of 2.8 kg. After birth, he was hospitalized because of hypotonia and feeding difficulty, and nasogastric feeding for 26 d. He was hospitalized twice again because of pneumonia. He rose his head at about 3 mo and could not sit at 6 mo. His length and weight were 60 cm (< 3SD) and 5.8 kg at 8 mo (< 3SD), respectively. Dolichocephaly, small almond-shaped eyes, high palate, downturned corners of mouth, fair skin, hypotonia, oblique inguinal hernia, small hands and feet, left cryptorchidism and small penis were noted. Flow cytometry showed CD3+of 36.3%(normal range, 48%–75%), CD3+CD4+ 25.4%(normal range, 33%-58%), CD3+CD8+ of 8.4%(normal range, 11%–25%); CD3-CD19+ of 52.0%(normal range, 14%–39%) and CD3-(CD16+/CD56+) of 7.6%(normal range, 2%–14%). Acleistocardia was found. Calcium ion and phosphorus, thyroid function, parathyroid hormone, insulin-like growth factor-1, antibodies of TORCH, kidney function, blood gas and electrolytes, ammonia, lactic acid, gas chromatography-mass spectrometry (GC/MS) screening and brain MRI were all normal or negative. MS-PCR showed hypermethylation in the SNRPN-S1 loci, while methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) showed normal copy with higher methylation in the 15q11-q13 region, implying PWS. Meanwhile, chromosomal microarray (CMA) analysis showed a deletion of 2.54 Mb in 22q11. 21 (18919528-21460595), which covered the key region of DS. DS is a common microdeletion disease with an incidence of 1/3000–4000 newborns [3, 4]. However, to our knowledge, this is the first case reported with PWS coincident with DS. Typical features of DS (eg., hypocalcemia, renal anomalies and seizures)[4] were absent although the low T lymphocyte, recurrent pneumonia and inguinal hernia maybe more suggestive of DS features. He presented remarkable PWS features, including hypotonia, feeding difficulty, developmental delay, dysmorphic facies, fair skin, small hands and feet, cryptorchidism and small penis. This case highlighted that in patients with clinical features similar with PWS, PWS coincident with another chromosome abnormality should also be considered.
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影响因子：
1.3
作者：
Pereira, Elaine;Marion, Robert
通讯作者：
Marion, Robert
DOI：
10.1590/s1807-59322010000900009
发表时间：
2010
期刊：
Clinics (Sao Paulo, Brazil)
影响因子：
--
作者：
Fomin AB;Pastorino AC;Kim CA;Pereira CA;Carneiro-Sampaio M;Abe-Jacob CM
通讯作者：
Abe-Jacob CM
影响因子：
2.6
作者：
Sullivan, Kathleen E.
通讯作者：
Sullivan, Kathleen E.
影响因子：
2
作者：
Lionti, Tess;Reid, Susan M.;Rowell, Margaret M.
通讯作者：
Rowell, Margaret M.