儿童双侧肾上腺嗜铬细胞瘤一例

双侧肾上腺髓质嗜铬细胞瘤比单侧更为罕见,我科经手术切除、病理证实一例报告如下。病历摘要:男,12岁,因头昏、头痛,心慌,视物模糊加剧一周入院。患儿一周前感头痛、头昏、眼发胀,视黑板字不清,心情焦虑,心悸,夜尿增多(4—6次),近三天持续头痛,看书字不清,食量减少,伴呕吐4次,多汗、口渴、多饮。病来不烧,不咳,大便干。     

儿童嗜铬细胞瘤的临床治疗体会

儿童嗜铬细胞瘤发病率较成人低 ,临床表现也有其自身的特点。本文总结本院 1975～ 1998年收治的 7例儿童嗜铬细胞瘤的临床特点及诊治经验。临床资料本组 7例患儿均为男性 ,年龄 8～14岁 ,平均发病年龄 11.8岁。患儿的症状主要有头昏、头痛、苍白、多汗、恶心呕吐、血压增高及高代谢 ,伴视力减退 4例 ,其中 1例单侧失明 ;发作时出现抽搐者 2例。 7例均有血压增高 ,其中 5例为阵发性 ,最高时可达 18～ 2 6 / 14～18ｋＰａ。酚妥拉明试验阳性 4例 ,7例尿ＶＭＡ均高于正常 ,尿儿茶酚胺为阳性。血肾上腺素、去甲肾上腺素测定均明显高于正常。 6例…     

儿童嗜铬细胞瘤7例报告

本文报告儿童嗜铬细胞瘤７例，年龄７￣１５岁，平均１２．８岁，以男性多见。临床表现以头痛、心悸及多汗为主，可伴有恶心呕吐、烦渴多饮，严重者可出现视力模糊、黑朦及抽搐。患者均有血压增高，以持续性多见，亦可见阵发性及急进性。尿ＶＭＡ在嗜铬细胞瘤的诊断中价值较大，应反复测定。Ｂ超及ＣＴ在定位诊断中，准确率在９５％以上。本病以手术治疗为主，术前选用α或／和β受体阻滞剂，以预防术中可能出现的血压波动及心脏并发     

儿童嗜铬细胞瘤6例

目的 探讨小儿哮铬细胞瘤的临床特点及诊断与治疗。方法 对６例铬细胞瘤的临床表现、病理特点及手术情况进行回顾性分析。结果 ６例１１个肿瘤,单发４例,多发２例。６例均有高血压,伴发严重高血压眼底病变５例,高血压脑病２例,术中平均出血量３６０ｍｌ,平均输血量１０３３ｍｌ。肿瘤平均重量５４．１ｇ,良性５例,恶性１例。全部病例均摘除肿瘤,无手术及住院期间死亡病例。结论 小儿嗜铬细胞瘤多发性比例较高,发作性头     

特殊的儿童嗜铬细胞瘤4例报告

目的探讨小儿特殊嗜铬细胞瘤的临床特点及治疗。方法报告2000-2004年间我院收治的4例小儿嗜铬细胞瘤病例，均为男性，年龄9～12岁。其中双侧肾上腺嗜铬细胞瘤2例，肾上腺外3例，异时再发者2例，有家族史1例。结果经妥善围手术期处理，顺利切除肿瘤，术后血压全部降至正常。结论儿童肾上腺外、双侧肾上腺．多发及再发的嗜铬细胞瘤发生率高于成人，手术切除肿瘤可获得良好的治疗效果。     

儿童嗜铬细胞瘤并儿茶酚胺心肌病1例

1 临床资料 患儿,男,8岁,因乏力,阵发性心悸、头痛、气促、多汗、苍白,有时出现抽搐1年入院。体格检查:P 128次,/min,R 40次/min,BP 150/106 mmHg,颜面苍白,全身多汗,心界向左下扩大,心率128次/min,节律齐,第一心音亢进。腹部未扪及肿块。心电图示:窦性心动过速;左室肥厚;ST-T改变提示心肌缺血;肺性P波。胸片示心脏扩大。心脏彩     

儿童家族性嗜铬细胞瘤1例

患儿男,10岁。因头痛1年,视力减退1周2009-11-28于中国医科大学附属盛京医院儿科入院治疗。患儿1年前无明显诱因出现头痛,呈阵发性,前额部明显,多发生于上午;1周前出现视力减退,视物模糊,伴腹痛,恶     

机器人辅助腹腔镜技术治疗儿童肾上腺嗜铬细胞瘤一例并文献复习

目的 探讨机器人辅助腹腔镜下肾上腺部分切除术治疗儿童嗜铬细胞瘤的疗效及安全性.方法 以上海交通大学附属儿童医院2020年7月收治的一例肾上腺嗜铬细胞瘤患者作为研究对象,回顾分析其临床资料,结合文献复习进行讨论和分析.结果 该患者为8岁男童,有高血压,并伴发相关临床症状,影像学检查提示右侧肾上腺区椭圆形肿物,边界尚清,周...     

儿童嗜铬细胞瘤围手术期血压管理

目的探讨儿童嗜铬细胞瘤(pheochromocytoma, PHEO)围手术期的血压管理。方法回顾性分析2009年1月至2019年12月广州医科大学附属广州市妇女儿童医疗中心收治的6例嗜铬细胞瘤患儿临床资料, 并复习PubMed数据库中有关嗜铬细胞瘤的文献。结果 6例均为男性, 表现为头痛2例(阵发性1例, 反复发作且进行性加重1例), 体检发现高血压3例(1例波动于120～160/60～110 mmHg, 伴心悸、多汗;1例波动于150～190/80～110 mmHg, 伴视物不清;1例波动于150～190/60～80 mmHg, 伴腹痛), 1例为复发病例。入院时主要症状:肿瘤切除术后出现心悸、多汗1例, 视物不清1例, 反复夜间头痛且进行性加重1例, 生后检查发现肾上腺结合部肿块1例, 腹痛伴血压升高1例, 先心病术后检查发现肾上腺占位1例。6例均行手术治疗, 控制围手术期血压, 有高血压表现者适当使用降血压药物, 缓慢使血压降至130/80 mmHg以内, 同时避免血压低于80/45 mmHg。6例中3例为开放手术, 3例为腹腔镜手术, 均完整切除肿瘤。术后3例使用激素替代治疗...     

Childhood pheochromocytoma: treatment with alpha methyl tyrosine for resistant hypertension.

A 12-year-old boy with a norepinephrine-secreting pheochromocytoma that caused hypertension resistant to oral alpha adrenergic blockade is reported. Resistance to alpha adrenergic blocking agents developed when the patient's daily propranolol dosage was lowered from 10 to 1 mg/kg. Subsequently, alpha methyl tyrosine, an inhibitor of tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis, controlled the patient's blood pressure and was associated with reduction in total urinary catecholamine excretion. Norepinephrine content of the tumor and uninvolved adrenal gland removal at surgery was reduced. These findings confirm that alpha methyl tyrosine inhibited in vivo synthesis of catecholamines.     

Phaeochromocytoma associated with a de novo VHL mutation as form fruste of von Hippel-Lindau disease

 Phaeochromocytomas usually occur sporadically but may be associated with dominant inherited cancer syndromes such as multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau disease (VHL) and type 1 neurofibromatosis. We report on a boy presenting at age 8 years with an isolated benign phaeochromocytoma of the left adrenal. Three years later a second adrenal phaeochromocytoma was diagnosed on the right side and removed. His family history was negative. Genetic analysis did not show a mutation in the MEN 2 susceptible proto-oncogene rearranged during transfection; however, we found a germline missense mutation in the VHL gene (nucleotide 695 G to A transversion) which has been described only twice before in the literature. Both parents had normal (wild type) VHL copies indicating that our patient had a de novo germline VHL mutation. Careful clinical evaluation of the patient at 18 years did not reveal any other manifestations of VHL disease. Conclusion Carriers of von Hippel-Lindau germline mutations can present with a form fruste of von Hippel-Lindau disease presenting initially with unilateral phaeo-chromocytoma and therefore mutation analysis should be carried out. Received: 21 June 2000 and in revised form: 18 February 2001 / Accepted: 20 February 2001     

儿童嗜铬细胞瘤并儿茶酚胺心肌病1例

<正> 1 临床资料 患儿,男,8岁,因乏力,阵发性心悸、头痛、气促、多汗、苍白,有时出现抽搐1年入院。体格检查:P 128次,/min,R 40次/min,BP 150/106 mmHg,颜面苍白,全身多汗,心界向左下扩大,心率128次/min,节律齐,第一心音亢进。腹部未扪及肿块。心电图示:窦性心动过速;左室肥厚;ST-T改变提示心肌缺血;肺性P波。胸片示心脏扩大。心脏彩     

Childhood pheochromocytoma in a survivor of central primitive neuroectodermal tumor

Pheochromocytoma and central nervous system primitive neuroectodermal tumor are both neural crest‐derived tumors. The former is usually benign and develops mainly in adulthood and the latter brain tumor mainly occurs in childhood and has a poor prognosis. We report a case of a 15‐year‐old boy who developed pheochromocytoma after more than 10 years of complete remission of central primitive neuroectodermal tumor. Thus far, there have been no reports of childhood cancer survivors who developed pheochromocytoma. This quite rare occurrence of two tumors in a single patient may imply some unidentified linkage or common genetic background.     

Childhood sporadic pheochromocytoma: clinical profile and outcome in 19 patients

Sporadic pheochromocytoma is a rare tumor of childhood and accounts for less than 1% of cases of hypertension. We describe the presentation and outcome of 19 adolescents with sporadic pheochromocytoma seen over past 10 years at a tertiary care center in north India. The mean age (+/- SD) at presentation was 15.1 +/- 2.4 years with range from 9-18 years. The male to female ratio was 12:7. The lag time between onset of symptoms to diagnosis ranged from 1 month to 5 years with mean (+/- SD) of 1.09 +/- 1.02 years. The majority of children presented with hypertension and paroxysms. Paroxysms, characterized by the triad of headache, palpitations and sweating, was present in 13 (68%) of these patients. Twelve (63%) patients had postural fall in blood pressure, ten (53%) had abdominal pain, four (21%) had visual blurring, and three (16%) each had palpable abdominal mass and significant weight loss at presentation. Nausea and vomiting are common symptoms in children with pheochromocytoma and were present in six (32%) and three (16%) patients, respectively. Café-au-lait macule was present in only two (11%) patients. Urinary vanilyl mandelic acid (VMA) was found to be significantly high in ten (53%) patients, and urinary epinephrine and norepinephrine in eight (42%). Six (32%) patients had both VMA and urinary epinephrine and norepinephrine within normal limits and five (26%) had significant elevation of both. The tumor was localized by ultrasonography in 17 (89%) patients and by computed tomography in 18 (95%), and in one patient it was localized by 131I-MIBG scan. Sixteen (84%) patients had adrenal pheochromocytoma (including four with bilateral masses), while the remaining three (16%) had abdominal extra-adrenal pheochromocytoma originating from sympathetic ganglions. The mean (+/- SD) diameter of the tumor was 4.4 +/- 1.7 cm, ranging from 2.2-7.5 cm. Pre-operatively, hypertension was managed by phenoxybenzamine in six (32%), sustained release prazosin in 12 (63%), beta-blockers in 14 (74%), calcium channel blockers in 12 (63%), and angiotensin converting enzyme inhibitors and diuretics in only two (11%) patients. Eighteen (85%) patients underwent exploratory laparotomy for removal of the tumor. On follow-up, 13 (72%) patients became normotensive, while six (32%) patients continued to have hypertension. In conclusion, childhood pheochromocytoma is characterized by atypical symptomatology; ultrasonography is a useful modality in localizing the lesions in the majority of patients; surgery is rewarding in most patients.     

Chronic hereditary pancreatitis with N29I mutation in a Turkish child

Hereditary pancreatitis, an autosomal dominant disease, is the second most common cause of pancreatitis in children. Here we report a child with recurrent pancreatitis attacks and N29I mutation. Due to the increased risk of pancreatic cancer, taking a detailed past and family history and early diagnosis are important.     

遗传性多发性骨软骨瘤基因突变检测:附一家系报告

目的 对1例遗传性多发性骨软骨瘤(HME)家系的EXT1和EXT2基因编码序列进行突变检测,寻找引起该家系HME的致病基因突变.方法 PCR扩增先证者EXT1和EXT2的各外显子及其侧翼序列,PCR产物经割胶纯化后,直接测序分析.结果 DNA测序分析发现,先证者EXT1基因第1外显子有一新的杂合缺失-插入突变(651-664delinsTTT),致使EXT1基因编码蛋白218位后的氨基酸发生移码突变,在220位处提前出现终止密码(K218fsx220),使编码的EXT1,蛋白为截断型蛋白.家系调查发现,该突变来自于先证者母亲.先证者EXT2基因没有发现变异.结论 EXT1基因651-664delinsTTT杂合突变,是引起该家系HME的分子机制.     

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy

The clinical and molecular data on triple A syndrome in two siblings (girl 3.5 years and boy 5.5 years at presentation) with early onset of neurological dysfunction are described. Both patients showed delayed developmental milestones and neurological dysfunctions (motor and sensory demyelinating neuropathy, marked hyperreflexia, calves hypothrophy, pes cavus, gait disturbance) in early childhood, when erroneously diagnosed with hereditary polyneuropathy, most likely Charcot–Marie–Tooth disease. After a severe adrenal crisis in the younger sister at the age of 3 years, the older brother aged 5.5 years was also evaluated and latent adrenal insufficiency was discovered. As both of the siblings had alacrima, hyperkeratosis of palms, cutis anserina, and nasal speech, diagnosis of triple A syndrome was considered. Sequencing of the AAAS gene detected a compound heterozygous mutation consisting of a novel mutation p.Ser296Tyr (c.887C>A) in exon 9 and a previously described p.Ser263Pro (c.787T>C) missense mutation in exon 8 in both siblings. In conclusion, triple A syndrome should be considered in patients presenting with early neurological dysfunction and developmental delay. Alacrima as the earliest and most consistent clinical sign should be investigated by Schirmer test. Patients should be regularly tested for adrenal dysfunction to prevent life-threatening adrenal crises.