Neuro-Behcet disease presented diplopia with hemiparesis following minor head trauma / 소아과

Behcet disease (BD) is rare in childhood. We report a 9-year-old boy with neuro-Behcet disease who presented diplopia and weakness on the left side after a cerebral concussion. Brain magnetic resonance imaging (MRI) revealed hyperintensity of the right mesodiencephalic junction on T2-weighted and fluid attenuated inversion recovery images. Prednisolone administration resulted in complete remission and normalization of abnormal MRI finding. Brain MRI is a useful diagnostic tool when the neurological sign is the first symptom of subclinical BD.

The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea

Argininosuccinic aciduria (ASAuria) is a rare autosomal recessive urea cycle disorder. Neonatal presentation of ASAuria is the most common form. It is characterized by lethargy, feeding intolerance, decreased consciousness, and coma after 24 to 72 hours of birth. We describe a rare case of ASAuria in a female neonate who presented with severe hyperammonemia, a typical characteristic of urea cycle disorders. This patient's diagnosis was confirmed by biochemical analyses, and we found that the patient had a point mutation of the argininosuccinate lyase gene, which was homozygous for a novel 556C>T substitution. We have never seen the neonatal form of ASAuria in Korea. Therefore, this is the first report of neonatal onset ASAuria in Korea.

A Case of Neonatal Submandibular Gland Abscess / 대한이비인후과학회지

Submandibular gland abscess is exceptionally rare in neonates. We present a case of submandibular gland abscess and etiology, investigations and treatment for this very rare condition. The patient was a 15-day-old neonate with a swelling in the right submandibualr region. She was born after a full term and showed a sign of dehydration. An ultrasound examination demonstrated a multiple lobulated echoic lesion and the right submandibular gland was nonvisible. A CT scan revealed a hypodense round mass measuring 2.5x2.8x2.8 cm and a multiple hyperdense lesion, but no right submandibular glands. A dignosis of submandibular abscess in association with acute suppurative sialadenitis was made. Under general anesthesia, the neck abscess was drained by a 2-cm long incision at two finger-breadths (3 cm) below the inferior border of the ramus of mandibule. A large amount of greenish pus emerged immediately after dividing the platysma. The submandibular salivary gland was nearly not found. Specimen from the pus were taken for the culturing of bacteria, fungi, actinomycetes, and tuberculosis. The wound was irrigated by normal saline and penrose drain was inserted. The antibiotics was administered for 7 days. A three-week follow-up showed no evidence of infection.

A case of cystic fibrosis presented with meconium ileus in a female neonate / 소아과

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period.

A Premature Newborn with Congenital Syphilis / 영남의대학술지

A preterm newborn affected by congenital syphilis, born to mother not treated during pregnancy is described. The clinical picture was characterized by respiratory distress, cutaneous manifestations, massive hepatosplenomegaly, severe anemia, thrombocytopenia, disseminated intravascular coagulation syndrome and hypoalbuminemia. The patient was treated with daily injections of 190,500 units of crystalline penicillin G for 14 days. Premature infants with these symptoms and signs should be evaluated for congenital syphilis.

White Matter Damage in Neonates in the Course of Viral Illness

Studies of brain magnetic resonance imaging (MRI) of neonatal white matter damage are few, and descriptions of this type of brain damage are limited. During the past three years, we have encountered three full-term infants with selective white matter damage over the course of their viral illness. All three neonates presented with seizures a few days after showing symptoms of a viral illness. The results of bacterial cultures of the blood, CSF, and stool were negative. Newborn screening tests for organic aciduria, amino acid metabolism disorders, and fatty acid oxidation defects were also negative. In two infants, an electroencephalogram (EEG) showed slow basic activity, which is a typical finding in patients with encephalitis/encephalopathy. The Diffusion-weighted MRI (DWI) showed abnormally high signal intensity localized to the white matter of the corpus callosum, thalamus, internal capsule, or hippocampus. The findings of DWI suggested that the neonates' lesions had occurred recently. All patients recovered completely.

Comparison of Efficacy of Steroid Oint with Different Potency in Phimosis / 소아과

PURPOSE: Phimosis is the inability to retract the foreskin of the penis over the glans of the penis. Even though phimosis is not pathogenic, the presence of phimosis is known to increase the risk of urinary tract infection in infancy. The use of topical steroids has been advocated as a safe and economical alternative to surgical intervention. The purpose of the study was to assess the effectiveness of topical steroids for the treatment of phimosis in young boys. METHODS: A total of 53 boys with phimosis were divided into two groups to distinguish between the efficacy of low-potency topical steroid (group 1, 27 cases) and of high-potency topical steroid (group 2, 26 cases). RESULTS: The success rate increased in the process of time. After 6 weeks, the success rate was 21 cases in group 1 and 22 cases in group 2. There was no significant differences in treatment outcomes between the two groups. The age of the boys, the appearance of prepuce prior to treatment, and the presence of previous symptoms, including symptoms of UTI, and ballooning of the prepuce at micturation had no significant difference on treatment outcomes. CONCLUSION: Topical steroid was effective in treatment of phimosis in boys younger than 4 years old. Although treatment outcomes between low- and high-potency topical steroids were not significantly different, those treated with a high-potency steroid cream showed more fast improvement. Further studies are necessary to assess systemic side effects of steroid treatment, duration of treatment and prevention of genitourinary tract infection in male infants.

A Case of Ondine's Curse with Hirschsprung Disease

Ondine's curse, also called congenital central alveolar hypoventilation, is a rare disorder involving failed automatic control of respiration in the absence of cardiopulmonary disease, resulting in inadequate ventilation with progressive hypercapnia and hypoxia during sleep. Although the exact pathophysiological mechanism remains unknown, it is thought that congenital defects in central chemoreceptor that originates from the neural crest cells may be responsible. This syndrome is often reported in association with Hirschsprung disease, and their co-occurrence suggests a common etiology, involving abnormal distribution and/or migration of neutral crest cells. We report a case of Ondine's curse with Hirschsprung disease in a 1-day-old neonate required endotracheal intubation and assisted ventilation.