Secondary Subaortic Stenosis after Patch Closure of Subarterial Ventricular Septal Defect

Subaortic stenosis usually occurs without a previous heart operation, however, it can occur after heart surgery as well, with a condition known as a secondary subaortic stenosis (SSS). SSS has been reported after surgical repair of several congenital heart defects. There are only a few recorded cases of SSS after repair of ventricular septal defect (VSD). Here we report a rare case of SSS that occurred 3 years after surgical repair of subarterial VSD. A follow-up echocardiogram is essential for detecting SSS caused by the newly developed subaortic membrane in patients who had cardiac surgery.

A Case of Radiologically Suspected Mesenteric Plexiform Neurofibromas in a Patient with Type I Neurofibromatosis

Neurofibromatosis type I(NF-1) is an autosomal dominant neurocutaneous syndrome characterized by cafe-au-lait spots, optic glioma, skeletal dysplasia, and iris hamartoma. Mesenteric plexiform neurofibromas(PNF) have been rarely reported in NF-1, especially in children. We report a case of radiologically suspected mesenteric PNF along the celiac axis in an 8-year-old boy who had cafe-au-lait spots and a family history of maternal NF-1.

A case of mosaic ring chromosome 13 syndrome / 소아과

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

Fatal plastic bronchitis with eosinophilic casts in a previously healthy child / 소아과

Plastic bronchitis is a rare disease characterized by the recurrent formation of branching mucoid bronchial casts that are large and more cohesive than those that occur in ordinary mucus plugging. Casts may vary in size and can be spontaneously expectorated, but some require bronchoscopy for removal. Plastic bronchitis can therefore present as an acute life-threatening emergency if obstruction of the major airways occurs. Three of 22 reported patients with eosinophilic casts were fatal, with death due to central airway obstruction. Here, we report a child with no history of atopy, allergy, or congenital heart disease who was diagnosed with plastic bronchitis with eosinophilic casts. Although he was administered intravenous (iv) antibiotics; iv corticosteroids; and a vigorous pulmonary toilet regimen, including chest physiotherapy and routine bronchoscopic removal of casts, he had brain death secondary to hypoxic brain damage. Plastic bronchitis can be fatal when casts obstruct the major airways, as in the present case. Clinicians should intervene early if a patient exhibits signs and symptoms consistent with plastic bronchitis.

Fatal plastic bronchitis with eosinophilic casts in a previously healthy child / 소아과

Plastic bronchitis is a rare disease characterized by the recurrent formation of branching mucoid bronchial casts that are large and more cohesive than those that occur in ordinary mucus plugging. Casts may vary in size and can be spontaneously expectorated, but some require bronchoscopy for removal. Plastic bronchitis can therefore present as an acute life-threatening emergency if obstruction of the major airways occurs. Three of 22 reported patients with eosinophilic casts were fatal, with death due to central airway obstruction. Here, we report a child with no history of atopy, allergy, or congenital heart disease who was diagnosed with plastic bronchitis with eosinophilic casts. Although he was administered intravenous (iv) antibiotics; iv corticosteroids; and a vigorous pulmonary toilet regimen, including chest physiotherapy and routine bronchoscopic removal of casts, he had brain death secondary to hypoxic brain damage. Plastic bronchitis can be fatal when casts obstruct the major airways, as in the present case. Clinicians should intervene early if a patient exhibits signs and symptoms consistent with plastic bronchitis.

A case of pulmonary thromboembolism in a healthy infant / 소아과

A pulmonary thromboembolism (PTE), which is a sudden blockage in a pulmonary artery, usually due to a blood clot, is rare in children. The clinical presentation is often subtle or masked by the underlying clinical condition and the condition must be suspected during clinical testing. Although the choice of treatment depends on the clinical presentation, anticoagulation is the mainstay of therapy for children with PTE. We report the case of a healthy 1-month-old boy who presented with hemoptysis without hemodynamic instability. He was diagnosed based on chest computed tomography with angiography and 99mTc macroaggregated albumin lung perfusion scintigraphy and treated with low-molecular-weight heparin.