Treatment of giant cervico-mediastinal lymphatic malformations: a case series.

BACKGROUND: Lymphatic malformations are histologically benign vascular structures that vary in anatomic lesion and size. Extensive head and neck lymphatic malformations may be life-threatening. In the present study, we described three difficult-to-treat infants with giant cervico-mediastinal lymphatic malformations accompanied by severe respiratory distress. CASE PRESENTATIONS: Case 1. A Korean girl born at a gestational age of 37 weeks and weighing 2920 g had a large cervical mass compressing the trachea. Despite initial OK-432 sclerotherapy, the mass extended over the contralateral retropharyngeal space and mediastinum. Although the cervical mass was completely excised, our patient was not weaned off the ventilator. The mediastinal lymphatic malformation was excised, and our patient underwent continued intensive respiratory care with nasal continuous positive airway pressure for 6 months. She is now 5 years old and doing well without any sequelae. Case 2. A 5-month-old Korean boy showed respiratory difficulty with feeding intolerance after partial excision of a neck lymphatic malformation. We found that the remnant cervical mass had grown into the retropharyngeal space and mediastinum. After a second operation for the cervico-mediastinal mass, he experienced severe respiratory difficulty requiring ventilator care for 6 months. However, he died from central-line fungal sepsis. Case 3. A 30-day-old Korean girl was referred for remnant lymphatic malformation after partial excision. The cervical mass extended to the mediastinum and occupied half of the thoracic cavity, encasing all of the major vessels. After surgical excision, she underwent ventilator care and pleurodesis three times with doxycycline for recurrent pleural effusion. At the age of 26 months, she was weaned off supplementary oxygen and she showed normal development without any sequelae. CONCLUSIONS: Despite difficulties in the treatment process, combinations of delicate surgical treatment, appropriate adjuvant sclerotherapy, and intensive respiratory supportive care could result in a good outcome. However, complications due to long-term intensive care could still be considered.

Clinical significance of serum alanine aminotransferase and lifestyle intervention in children with nonalcoholic fatty liver disease.

PURPOSE: This study aimed to investigate the clinical significance of serum alanine aminotransferase (ALT) levels in children with nonalcoholic fatty liver disease (NAFLD) and the effect of lifestyle intervention on NAFLD. METHODS: The clinical data of 86 children diagnosed with NAFLD were reviewed retrospectively. Forty-six patients belonged to the elevated ALT group and 40 to the normal ALT group. The clinical parameters of patients with NAFLD were also compared based on the status of ALT levels after lifestyle intervention. RESULTS: Patients with elevated ALT had significantly higher body mass index (BMI) scores than those with normal ALT (P<0.05). Of all the patients with elevated ALT, 89% exhibited moderate or severe degree of fatty change in the liver on ultrasonographic examination, whereas most patients with normal ALT exhibited mild or moderate degree changes. Liver biopsy was performed in 15 children with elevated ALT and all showed mild histological changes. Of all patients with elevated ALT, 49% achieved normal ALT levels after lifestyle intervention. Those with more severe histological changes tended to have continuously increasing ALT levels. There was no correlation between the normalization of posttreatment ALT level and BMI, as well as ultrasonographic findings at diagnosis. CONCLUSION: ALT elevation in NAFLD is highly associated with higher BMI scores and more severe degree of fatty changes on ultrasonographic examination. Lifestyle intervention can significantly improve ALT in children with NAFLD. The degree of histologic changes appears to be a predictor of the treatment response to NAFLD.

The effect of early menarche on the sexual behaviors of Korean female adolescents.

PURPOSE: This study examined the relationships between early menarche and sexual behaviors among Korean female adolescents. METHODS: We analyzed data from the eighth Korea Youth Risk Behavior Web-based survey that was conducted on female high school students in grades 10-12. The survey included 17,867 students, and 974 students were assigned to the early menarche group because they had experienced menarche when they were in grade four or below, and 16,893 students were assigned to the normal menarche group because they had experienced menarche during or after grade five. The characteristics of the sexual behaviors in the early menarche and normal menarche group were analyzed. RESULTS: The early menarche group was at a higher risk of intersexual kissing or petting (odds ratio [OR], 1.54; 95% confidence interval [CI], 1.28-1.87), intersexual intercourse (OR, 2.35; 95% CI, 1.65-3.36), homosexual kissing or petting (OR, 3.53; 95% CI, 2.22-5.59), homosexual intercourse (OR, 7.70; 95% CI, 4.04-14.66), being the victim (OR, 2.89; 95% CI, 1.98-4.22) or the assailant (OR, 13.55; 95% CI, 6.61-27.78) of sexual assaults, intercourse without any contraception (OR, 1.92; 95% CI, 1.06-3.46), and pregnancy (OR, 5.72; 95% CI, 2.31-14.15) than the normal menarche group. CONCLUSION: Early menarche is associated with risky sexual behaviors among adolescent females; therefore, developing comprehensive sexual health education programs and tools for early intervention are required for children who are expected to experience early menarche.

X-linked recessive myotubular myopathy with MTM1 mutations.

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.

A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.