Thyroid hormone may predict treatment failure in Kawasaki disease.

BACKGROUND: In systemic inflammatory conditions, inflammatory cytokines can cause low thyroid hormone levels. There are no reports discussing the relation between thyroid hormone levels and response to treatment for Kawasaki disease. METHODS: We investigated 67 patients who underwent treatment in the acute phase of Kawasaki disease. We divided patients into two groups based on their response to initial intravenous immunoglobulin (IVIG) treatment: the responder group (n = 40), and the non-responder group (n = 27). The serum levels of the thyroid hormones free triiodothyronine (FT3), free thyroxine (FT4), and thyroid-stimulating hormone (TSH) were compared before and after treatment in all patients, and between responder and non-responder groups. RESULTS: The FT3, FT4, and TSH levels were low before the initial treatment and increased significantly after treatment (p < 0.05). The FT3, FT4, and TSH levels before treatment were significantly lower in the non-responder group than in the responder group (p < 0.05). Logistic regression analysis suggested that the addition of pre-treatment FT4 values to Gunma score was useful in predicting treatment failure. CONCLUSIONS: Thyroid hormone and TSH levels were lower in the non-responder group than in the responder group in the initial IVIG treatment for Kawasaki disease. This study suggests that Kawasaki disease in the acute phase is associated with low thyroid hormone levels and TSH. It is possible that these hormone levels predict response to the initial IVIG.

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease characterized by resistance to aldosterone, and the renal form of PHA1 is associated with heterozygous inactivating mutations in NR3C2, which encodes mineralocorticoid receptor (MR). Here we report a case of renal PHA1 due to a novel frameshift mutation in NR3C2. A 10-day-old Japanese male infant, born at 39 weeks gestation (birth weight, 2,946 g), was admitted to our hospital because of lethargy and vomiting, with a 6.7% weight loss since birth. Laboratory test results were: Na+, 132 mEq/L; K+, 6.6 mEq/L; Cl+, 93 mEq/L. Both plasma aldosterone level and plasma renin activity were markedly elevated at diagnosis, 2,940 ng/dL (normal range: 26.9-75.8 ng/dL) and 560 ng/mL/h (normal range 3.66-12.05 ng/mL/h), respectively. Direct sequence analysis of NR3C2 revealed a novel heterozygous mutation (c.3252delC) in the patient and his father. The mutation causes a frameshift starting at amino acid I 963 within the C terminal ligand-binding domain of MR and results in a putative abnormal stop codon at amino acid 994, with an extension of 10 amino acids compared to normal MR. We performed cell culture experiments to determine the levels of mutant NR3C2 mRNA and MR, and evaluate the effects of the mutation on MR response to aldosterone. The mutation decreased the expression of MR, but not NR3C2 mRNA, and led to decreased MR function, with no dominant negative effect. These results provide important information about MR function and NR3C2 mutation in PHA1.

Aortic arch thrombosis in the neonate.

Aortic arch thrombosis (AAT) of the neonate is rare but life-threatening by fatal compromise associated with thrombotic obstruction of the ascending aorta. We report a neonate with AAT who demonstrated a severe coarctation of the aorta and cerebral hypo-perfusion immediately after birth. Echocardiography confirmed the diagnosis of AAT on the findings of a large thrombus located on the transverse arch and blocking the cervical arterial branches. Low-molecular-weight heparin reduced the size of the thrombus and improved the hemodynamics of coarctation and cerebral perfusion. Echocardiography is a powerful tool to make a diagnosis and to monitor the size and regression of AAT.

Spontaneous dissection of the arterial duct during continuous infusion of prostaglandin E1 in a neonate with aortic arch interruption.

We report a 3-day-old boy with double outlet of the right ventricle and interruption of the aortic arch who developed spontaneous dissection of the arterial duct (DA) despite use of continuous infusion of lipo-prostaglandin E1 (PGE1). Transthoracic echocardiography demonstrated the spontaneous dissecting aneurysm of DA, which was confirmed by histology at the modified Norwood procedure done at age of 18 days. This is the first report of spontaneous dissection of DA in a neonate receiving PGE1, suggesting a new closing mechanism of DA.

Castleman disease in a child with short stature.

We report a 14-year-old boy with Castleman disease in this article. He complained of short stature, and his body height was 133.8 cm (<3rd percentile; z score -4.5). There was marked delay in the appearance of secondary sexual characteristics. He was found to have a remittent fever and a lower mid-abdominal tumor. Blood test revealed microcytic hypochromic anemia, thrombocytosis, polyclonal hypergammaglobulinemia, hyperfibrinogenemia, and elevated erythrocyte sedimentation rate. The serum IL-6 and C-reactive protein levels were increased. The mass was found to be mixed hyaline vascular and plasma cell type of Castleman disease through a pathological examination. Lymph nodes affected by Castleman disease cause overproduction of IL-6. It decreases IGF-1, IGFBP-3 and serum testosterone levels. As a result of tumorectomy, his short stature and delay in the development of secondary sexual characteristics were improved.

[Long-term outcome of aortic valve replacement with annular enlargement].

BACKGROUND: The choice of appropriate treatment in children with aortic valvular lesions remains controversial. The purpose of this study is to assess early and late outcomes of aortic valve replacement with annular enlargement in children. METHODS: A retrospective study was conducted in 16 consecutive patients aged 0.26 to 15.9 years operated on between 1993 and 2008. Thirteen children underwent aortic valve replacement with Konno procedure (mechanical valve: 12, homograft: 1), 2 children underwent Ross procedure, and the last child underwent Nicks procedure with mechanical valve replacement. All patients undergoing mechanical valve replacement were given warfarin with a monthly international normalized ratio (INR) control. RESULTS: Overall early mortality was 12.5% (2 cases). Emergency operation was performed in these cases because of infectious endocarditis and acute cardiac failure. However, cardiopulmonary bypass (CPB) weaning could not be obtained. There was 1 late death 5 months after mechanical valve replacement. The patient developed methicillin-resistant Staphylococcus aureus (MRSA) sepsis after cleft palate repair. Reoperation was needed in 1 case. CONCLUSION: We conclude that mechanical valve replacement with aortic annular enlargement is an acceptable treatment in children. It is associated with acceptable mortality and low incidence of late events, and provides long-term survival.

[Results of Norwood type operation for interrupted aortic arch complex; surgical decision making].

BACKGROUND: Interrupted aortic arch (IAA) is associated with a multitude of lesions ranging from isolated ventricular septal defect to hypoplastic left ventricle or severe subaortic stenosis (SAS). Left ventricular outflow obstruction such as SAS continues to be an important factor for deciding the surgical procedure between univentricular and biventricular repairs. METHODS: A retrospective study was conducted in 8 consecutive infants aged 14 to 117 days and operated on between 2004 and 2009. Seven patients had undergone bilateral pulmonary artery banding for pulmonary high flow regulation. All patients underwent Norwood-type operation (4 with systemic to pulmonary artery shunt, 3 with right ventricle to pulmonary artery shunt, and 1 with bidirectional Glenn shunt). RESULTS: One patient died 2 months after surgery due to respiratory failure. The others were discharged in a good condition. One patient underwent Rastelli-type operation and biventricular circulation was achieved. The other 6 patients were all Fontan candidates. CONCLUSION: Satisfactory initial palliation can be achieved by Norwood-type operation for IAA with severe SAS or hypoplastic left ventricular-aortic complex.

[Acute coronary syndrome due to abnormal fibrous tissue growth after Aubert-Imai modification for transposition of the great arteries].

We report a female infant with acute coronary syndrome after Aubert-Imai modification for transposition of the great arteries. Two months postoperatively, she visited the emergency room because of perspiration and tachypnea. She was diagnosed with acute coronary syndrome by blood chemistry examination. Cardiac catheterization revealed Aubert route stenosis, and emergency operation was performed. The lumen around the aortopulmonary window was almost totally occluded by fibrous tissue extending from the equine pericardial patch. This fibrous tissue was completely resected and the aortopulmonary window was deepened to enlarge the coronary ostium. We recommend a close follow-up including angiography after these procedures.

[Pulmonary valve replacement due to ectopic ossification on expanded polytetrafluoroethylene cusp after tetralogy of Fallot repair; report of a case].

Operative correction of tetralogy of Fallot has been performed for more than 50 years and well established. To date, the literature on reoperation has focused and indications and the long-term outcome have not been well defined. We herein report a case of pulmonary valve replacement due to ectopic ossification on expanded polytetrafluoroethylene (ePTFE) cusp in a female child who had undergone right ventricular outflow tract reconstruction for tetralogy of Fallot with pulmonary atresia. Because of severe right ventricular dilatation with end diastolic volume of 186 ml/m2 on cardiac catheterization, redo operation was planned for functional recovery of the right ventricle. Previous transannlar patch was removed and pulmonary valve replacement was performed using CEP 23 mm. A hard calcification was observed around the cusp of transannular patch. Pathological findings revealed ectopic ossification with osteoblast colonization around the ePTFE cusp. This is the 1st report of ectopic ossification on ePTFE.