Medullary carcinoma of thyroid gland in a girl aged 10 years.

A healthy girl of 10 years presented with lumps on her tongue, shown on biopsy to be neuromas. She had had operations to her feet for pes cavus and was relatively long-limbed but had no other ''Marfanoid'' features. She had a high plasma calcitonin level. At operation a normal sized thyroid gland was totally removed. It contained two discrete masses of malignant C-cells and diffuse foci elsewhere. The plasma calcitonin fell slowly to normal on follow-up but was noted to be rising 2 1/2 years later. We stress the importance of making this diagnosis as early as possible and mention briefly another child aged 15 months, similarly diagnosed and operated upon.     

11岁女孩反复全身散在皮疹10年

女性患儿,11岁,因反复全身及黏膜部位皮疹10年入院,典型皮疹为口周、手足关节、外阴、肛周处红斑,红斑上可见水疱、糜烂、溃疡,补锌治疗后好转,其弟弟有类似的皮疹及病史。皮肤组织病理学检查可见表皮角化不全伴轻度角化过度,角质层重度海绵状水肿,棘细胞明显增生,角质形成细胞空泡化。基因检测提示患儿及其弟弟SLC39A4基因均存在c.1456(exon9)delG致病性纯合突变,诊断为肠病性肢端皮炎。对于反复出现四肢及腔口周围皮疹,且治疗反复的患儿,应尽早完善基因检测以明确诊断,同时予以足剂量的补锌治疗,定期检测血清锌等微量元素的水平。 ［中国当代儿科杂志,2022,24（9）：1047-1052］     

15岁女孩突发抽搐并肺部多发结节

15岁女童因抽搐1次,同时肺部CT发现肺结节入院.无肢端发绀,无明显杵状指/趾畸形.实验室检查示血红蛋白升高(162 g/L)、动脉血氧分压降低(61.5 mm Hg).肺部CT提示右肺中叶见不规则稍高密度结节,增强扫描可见明显强化,局部见粗大血管影.追问病史发现患儿母亲有鼻衄、肺部肿物切除史及舌部毛细血管扩张表现.患...     

Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia

A 9-year-old female with ataxia-telangiectasia (AT) presenting with papillary thyroid carcinoma and lymph nodes involvement is reported. We discuss this novel association, the general risk of neoplasic complications in these patients, the natural history of thyroid carcinoma in the pediatric population and the potential link between thyroid carcinogenesis and ataxia-telangiectasia mutated gene (ATM) mutation. We also expose our therapeutic attitude, according to both clinical status and particular genetic background of our patient.     

4岁3月龄女孩发绀4年余

4岁3月龄女性儿童,出生后即出现口唇发绀,1年前出现活动后气促,3个月前出现肢端发绀,伴明显杵状指/趾畸形。实验室检查示血红蛋白升高（178 g/L）、动脉血氧分压降低（37.7 mm Hg）。肺部CT平扫+增强见右下肺大片及多发小结节状边界清晰致密影,右下肺动脉增粗,右下肺静脉扩张。肺动脉磁共振血管成像检查显示巨大肺动静脉畸形。患儿确诊为先天性肺动静脉瘘,予介入下行肺动脉瘘栓塞术治疗。术后3个月随访,患儿气促、发绀等症状消失,活动耐量恢复正常,心率、血红蛋白浓度、红细胞计数、经皮血氧饱和度均恢复正常。     

12岁女孩反复腹痛、呕吐伴三酰甘油升高、抗核抗体阳性北大核心CSCD

患儿为12岁2个月的青少年女性,反复腹痛、呕吐2年余,关节痛3个月,诊断为复发性急性胰腺炎,多次入院治疗,胰腺炎原因不明。实验室检查发现空腹血清三酰甘油多次显著升高,免疫球蛋白升高、抗核抗体阳性,予对症支持治疗后症状好转。3个月前患儿出现四肢关节肿痛伴活动障碍,检查发现蛋白尿、血尿,抗双链DNA抗体阳性,进一步肾脏穿刺检查,病理及冷冻切片免疫荧光提示弥漫性狼疮性肾炎(Ⅳ型)。最终诊断为系统性红斑狼疮、狼疮性肾炎Ⅳ型、复发性急性胰腺炎。胰腺炎高度可疑与系统性红斑狼疮有关。予硫酸羟氯喹、甲泼尼龙琥珀酸钠及环磷酰胺治疗,四肢关节肿痛症状改善。后改为醋酸泼尼松片口服,定期予以环磷酰胺冲击治疗及贝利优单克隆抗体泵注等治疗,目前关节疼痛好转,仍有蛋白尿及血尿。临床上需要警惕以胰腺炎为首发表现的系统性红斑狼疮,对不明原因胰腺炎需进行相关免疫学指标检查,密切监测其他系统的症状,以免延误诊断。[中国当代儿科杂志,2022,24(8):917-922]     

Takayasu's disease in a 14 years old girl

Takayasu's disease is a chronic, nonspecific arteritis of unknown etiology. It mainly affects young women in the second and third decade of life. The reports of the disease in pediatric patients are rare. The pathological process involves all the layers of the arterial wall. It affects primarily the aortic arch and its main branches. If the renal arteries are involved, hypertension develops. A 14-year-old girl suffered from Takayasu's disease was described. The first symptoms: tonic-clonic seizures, neurological signs and high arterial blood pressure were observed in a previously healthy girl. The diagnostics process was presented with special attention given to the interpretation of radiological imagings. The diagnosis of Takayasu's disease was based on result of angiography. This examination demonstrated the abdominal aorta abnormalities which have been described in patients with Takayasu's disease and the right renal artery stenosis.     

Medullary sponge kidney associated with distal renal tubular acidosis in a 5-year-old girl

Introduction Medullary sponge kidney (MSK) is characterized by cystic dilatation of the inner medullary collecting ducts, which causes the kidneys to resemble a sponge.Case report Although distal renal tubular acidosis (dRTA) is commonly observed in patients with MSK, we report a 5-year-old girl with MSK who had features of both dRTA (nephrocalcinosis, hypercalciuria, hypocitraturia) and proximal tubular dysfunction (hyperuricosuria, impaired tubular phosphate reabsorption and proteinuria).Discussion Metabolic acidosis, hypercalciuria, hypocitraturia, tubular phosphate reabsorption and growth retardation in the patient improved with alkali therapy.