Postpericardiotomy syndrome after minimally invasive pectus excavatum repair unresponsive to nonsteroidal anti-inflammatory treatment.

A 14-year-old boy developed postpericardiotomy syndrome after an otherwise uneventful minimally invasive pectus excavatum repair. Dyspnoea, chest pain, and pericardial effusion progressed despite nonsteroidal anti-inflammatory treatment. The symptoms rapidly resolved with intravenous methylprednisolone, and pericardiocentesis was thus avoided. This is the first report of postpericardiotomy syndrome after the Nuss procedure treated with systemic steroids.

Polymorphisms in the bradykinin B2 receptor gene and childhood asthma.

Bradykinin has been suggested as one of the key mediators of bronchial asthma. Polymorphisms with a potential functional relevance have been described in the B2 bradykinin receptor gene. Study of these polymorphisms in 77 children with asthma and 73 controls revealed no association. However, when comparing the asthmatics according to their age at onset (before and after age 4), the exon 1 allele BE1-2G was significantly associated with late-onset asthma (p<0.05). Since BE1-2G has previously been shown to lead to a higher transcription rate of the B2 receptor, this result warrants further investigation of the role of bradykinin in conferring susceptibility to pediatric asthma.

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.

UNLABELLED: Congenital sialidosis is a rare lysosomal storage disease caused by a primary neuraminidase deficiency which results from defects in the neuraminidase gene on chromosome 6p. The inheritance is autosomal recessive. Patients exhibit excessive urinary excretion of bound sialic acid and decreased or undetectable amounts of neuraminidase activity in various tissues. The clinical expression is variable, but ascites and hepatosplenomegaly are hallmarks of the disease. Skeletal abnormalities, facial dysmorphism and inguinal herniae have been described in most of the few reported cases. We describe a baby girl with biochemically proven sialidosis, who in addition to the above clinical features, had severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous, macular rash. Homozygosity for a frameshift mutation at residue 623 of the neuraminidase cDNA was found. We speculate that the additional features found in our patient might be associated with the here described genotype of congenital sialidosis. CONCLUSION: Severely dilated coronary arteries, excessive retinal vascular tortuosity and an erythematous macular rash might be associated features of congenital sialidosis.

The low molecular weight heparin dalteparin for prophylaxis and therapy of thrombosis in childhood: a report on 48 cases.

UNLABELLED: We investigated the efficacy, safety and relation of dose to plasma anti-Xa activity of the low molecular weight heparin (LMWH) dalteparin in prophylaxis and therapy of arterial and venous thrombosis in pediatric patients. A total of 48 children were enrolled: 10 received dalteparin for prophylaxis (group I), 8 for reocclusion prophylaxis following successful thrombolysis (group II), 5 following failed thrombolysis (group III) and 23 for primary antithrombotic therapy (group IV). Two children were treated with dalteparin for pulmonary veno-occlusive disease (PVOD) and for primary pulmonary hypertension (PPH), respectively. OUTCOME: In group I no thrombo-embolic event occurred. In group II recanalization was maintained or improved, in group III vascular occlusion persisted under dalteparin. In group IV we saw complete recanalization in 7/23 (30%), partial recanalization in 7/23 (30%) and no recanalization in 9/23 (40%) cases. The child with PVOD had recanalization proven by lung biopsy; the clinical condition of the child with PPH also improved. Minor bleeding occurred in 2/48 (4%) children. For prophylaxis 95 +/- 52 (mean and SD) anti-Xa IU/kg BW, for therapy 129 +/- 43 (mean and SD) anti-Xa IU/kg BW proved effective. For both prophylaxis and therapy the required dose per kg BW was inversely related with age (r2 = 0.64, P = 0.017; r2 = 0.13, P = 0.013). CONCLUSION: Dalteparin proved to be an effective and well tolerated drug for prophylaxis and therapy of thrombosis in pediatric patients. Dose requirement for effective treatment was higher in younger children and decreased with age.