以心脏杂音为首发症状的WHIM综合征1例

对2017年12月在首都医科大学附属北京儿童医院就诊的1例以心脏杂音为首发症状的WHIM综合征患儿临床资料进行回顾性分析。患儿,女,5岁,临床表现为心脏杂音,粒细胞减少及反复感染。基因检测结果提示 CXCR4基因杂合突变(c.1000C>T)。心脏超声及心脏CT提示心脏畸形。WHIM综合征非常罕见,以心脏杂音...     

A case of multisystem Langerhans cell histiocytosis with primary hypothyroidism followed by type 1 diabetes mellitus

We report a case of a 13‐year‐old female with Langerhans cell histiocytosis (LCH) and primary hypothyroidism followed by type 1 diabetes mellitus (DM), both of which are rare complications. In LCH diagnosis, imaging studies showed an enlargement of the thyroid gland, suggesting the involvement of LCH cells. While the pancreas appeared normal, insulin secretion markedly deteriorated 11 months after cessation of chemotherapy. Even without direct pancreatic involvement, there is a possibility that LCH could induce DM as a part of its long‐term complications. In particular, thyroid involvement may be related to the onset of DM. Pediatr Blood Cancer 2009;53:232–234. © 2009 Wiley‐Liss, Inc.     

The Wiedemann-Beckwith syndrome in four sibs including one with associated congenital hypothyroidism

Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.Abbreviations WBS Wiedemann-Beckwith syndrome - ADI autosomal dominant inheritance     

A case of diabetes mellitus associated with Rett syndrome

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psychomotor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.     

Increased serum creatinine associated with severe primary hypothyroidism

A case of myxoedema due to Hashimoto's thyroiditis associated with a significant increase in serum creatinine is reported. Thyroid hormone replacement therapy resulted in normalization of the serum biochemistry within 1 month.     

Congenital hypothyroidism and neonatal withdrawal syndrome

We describe a neonate born of drug dependent parents. This observation documents the variability of expression in the neonatal abstinence syndrome and the interaction with an additional disease.     

Ovarian tumor in a 12‐year old female with severe hypothyroidism: A case of Van Wyk and Grumbach syndrome

We report a 12‐year‐old female presenting with an abdominal tumor. Diagnostic workup revealed giant bilateral ovarian cysts, severe hypothyroidism as well as an elevation of CA 125. We refrained from ovariectomy, which would be necessary for a malignant tumor, in view of an evident Van Wyk and Grumbach syndrome. The patient promptly responded to L ‐thyroxine with complete regression of all symptoms. Hypothyroidism should be considered in the evaluation of ovarian cysts. Although the Van Wyk and Grumbach syndrome is rare, it is crucial to rule it out in order to avoid unnecessary ovarian surgery when thyroid replacement is completely sufficient. Pediatr Blood Cancer 2009;52:677–679. © 2009 Wiley‐Liss, Inc.     

Bilateral galactocele in a male infant with Down syndrome and congenital hypothyroidism

Galactocele is an uncommon benign breast lesion. Its cause is unknown. Here, we report a male infant with Down syndrome and congenital hypothyroidism during the newborn period. At follow up, when he was 6 months old, bilateral mammillary swelling was detected and diagnosed as galactocele. Although thyroid hormone levels were normal, serum prolactin levels were elevated. Cyst aspiration was performed on the left side and 6 months after the aspiration of the cyst on the left side, both cysts had clinically and sonographically regressed. No recurrence was observed at the end of the 4th year.     

Transient hypothyroidism associated with prematurity,sepsis, and respiratory distress

Serial TSH and T4 determinations were performed in sixty neonates admitted to our hospital for neonatal intensive care within a period of three months. Seven patients (12%) showed transient hypothyroidism on the basis of low T4 and high TSH values. Only one of these patients, who had meconium aspiration and pneumonia, did not have the respiratory distress syndrome. In addition, 4 of these patients had sepsis. All of the patients were born before 37 gestational weeks and had birth weight under 2200 g. In addition, two patients of this gestational age and birth weight group had a progressive fall of T4 to extremely hypothyroid values without simultaneous elevation of TSH. Two of the 5 patients who died had histological studies of their thyroids. These revealed colloid-depleted vesicles, desquamated epithelium, and prominent vascularisation of the thyroid. The results of this study show that early recognition and therapy of transient hypothyroidism may be live saving.     

Congenital hypothyroidism associated with Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, mental deficiency and dysmorphic facies. We report the association of Rubinstien-Taybi syndrome with congenital hypothyroidism.     

Primary hypothyroidism with pericardial tamponade

We report a rare case of pericardial effusion and tamponade in a 10-yr-old child with undiagnosed primary hypothyroidism, who presented to us with delayed milestones, anasarca for 7 mth and respiratory distress for 20 days. The child recovered with ultrasound guided pericardial tap and thyroxine replacement therapy.     

甲状腺球蛋白增高的先天性甲状腺功能减退症1例报告并文献复习

目的 探讨甲状腺球蛋白(TG)增高的先天性甲状腺功能减退症(CH)家系的临床特征及TG基因变异特征.方法 回顾分析1个TG增高的CH家系的临床及TG基因检测结果,并复习相关国内外文献.结果 先证者,女,45日龄,生后黄疸消褪延迟伴便秘.甲状腺功能检测提示为CH,同时发现TG水平增高.基因检测结果显示患儿TG基因存在c....     

以胎儿水肿为特征的先天性甲状腺功能减低症 1 例报告

目的探讨胎儿水肿的鉴别诊断和新生儿期先天性甲状腺功能减低症的罕见表现。方法回顾性分析1例因胎儿水肿导致产时窒息和呼吸衰竭,最终诊断为先天性甲状腺功能减低症的新生儿病例的临床资料,并复习相关文献。结果患儿女,维吾尔族,胎龄38+5周,因宫内窘迫剖宫产,出生后发现全身性皮下水肿伴青紫和呼吸困难。予气管插管呼吸机辅助通气;日龄1 d甲状腺功能测定发现血清促甲状腺激素??100 m U/L,游离甲状腺素6.56 pmol/L;超声提示甲状腺未发育。应用左旋甲状腺素片替代治疗后临床症状好转,日龄8 d撤离呼吸机。根据临床和实验室监测调整用药剂量,于日龄18 d时带药出院门诊随访。结论先天性甲状腺功能减低症可成为胎儿水肿的病因,应注意鉴别诊断。     

Primary hypothyroidism associated with pituitary enlargement,slipped capital femoral epiphysis and cystic ovaries

A case of primary hypothyroidism with pituitary enlargement, slipped capital femoral epiphysis and cystic ovaries is reported. The pituitary abnormality and cystic ovaries disappeared dramatically after thyroid hormone therapy. Hip pinning was performed. The recognition of these associations may eliminate unnecessary surgery and lead to the choice of hormone replacement therapy.Abbreviations TGHA antithyroglobulin haemagglutination antibody - MCHA antithyroid microsome haemagglutination antibody - PRL serum prolactin - GH growth hormone - SCFE slipped capital femoral epiphysis     

A case of congenital hypothyroidism in PHACE syndrome

Although hemangiomas, benign tumors of vascular origin, are very common among children and represent the most frequent benign tumor at that age, their association with other malformations constitutes a rare neurocutaneous disorder called PHACE syndrome. This condition is characterized by posterior fossa anomalies, hemangioma of the face, arterial alterations, cardiac defects, and eye anomalies (as represented by the acronym PHACE); sternum defects, endocrinopathies, and thyreopathies may be present as well. In this report, we describe a case of congenital hypothyroidism due to an empty thyroid site, as demonstrated by ultrasound, in an Italian child.     

Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects

Background

Congenital hypothyroidism (CH) is the most common endocrine system disorder in newborns. Ectopic thyroid and agenesis are the most frequent thyroid structural malformations. Several reports have shown that CH is associated with birth defects (BD) ranging from congenital heart disease to ocular and gastrointestinal anomalies.

Aims

We investigated how many and what types of BD were associated with CH in Mexican children.

Study design

Cross-sectional study conducted in patients with confirmed CH.

Setting

Highly specialized government pediatric center in Mexico City.

Subjects

We included 212 patients with permanent CH identified by newborn screening.

Results

We found that 24% of patients with CH also had BD, and that there was a higher prevalence of thyroid agenesis in the group of patients with CH associated with BD (CH + BD) versus the isolated CH group (p = 0.007). There were more females than males in both groups. The most common BD were congenital heart diseases, especially those of the atrial septum, followed by patent ductus arteriosus, found as a single malformation or as part of a complex congenital heart disease. In this study, we found Hirschsprung disease, Beckwith-Wiedemann syndrome, Pierre Robin sequence, Albright's osteodystrophy, VATER association, and frontonasal dysplasia associated with CH.

Conclusions

In this study population, there was a high prevalence of BD in patients with permanent CH. Thyroid agenesis was the main etiological cause of CH in patients with associated congenital malformations. The high prevalence of CH + BD underlines the need for a comprehensive clinical diagnostic approach of the patients with CH.     

A case of congenital nephrotic syndrome associated with partial deficiency of lecithin cholesterol acyltransferase (LCAT) and hypothyroidism

The case of a 3 year-old boy with congenital nephrotic syndrome is reported, in whom decreased LCAT activity and hypothyroidism were also present. Renal biopsy confirmed a diffuse proliferative glomerulonephritis with a large number of foam cells in the capillary lumen of the glomerulus and the interstitium, which stained positively with acid phosphatase indicating the presence of macrophage with phagocyted lipid vacuole. The histological picture was similar to that of familial LCAT deficiency, but the reported case is one of secondary LCAT deficiency as a result of urinary loss of the enzyme. Replacement therapy with thyroid hormones resulted in improvement in growth and development.