A sclerosing stromal tumor of the ovary is an extremely rare benign tumor; it usually is found during the second and third decades of life. Patients present with pelvic pain or a palpable abdominal mass. Hormonal effects such as masculinization are uncommon. Here, an 11-year old premenarchal girl presented with deepening of the voice. In addition, clitoromegaly and hirsutism with... |
Although milky nipple discharge appears frequently in infants, bloody nipple discharge is a very rare finding. We experienced a 4-month-old, breast-fed infant who showed bilateral bloody nipple discharge with no signs of infection, engorgement, or hypertrophy. The infant's hormonal examination and coagulation tests were normal, and an ultrasound examination revealed mammary duct ectasia. The symptoms resolved spontaneously within 6 weeks... |
Bickerstaff's brainstem encephalitis (BBE) is a rare disease diagnosed by specific clinical features such as 'progressive, relatively symmetric external ophthalmoplegia and ataxia by 4 weeks' and 'disturbance of consciousness or hyperreflexia' after the exclusion of other diseases involving the brain stem. Anti-ganglioside antibodies (GM, GD and GQ) in the serum or cerebrospinal fluid (CSF) are sometimes informative for the diagnosis... |
Purpose : Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals... |
A 13-year-old girl with psoriasis of the elbow, trunk, and face suddenly developed a severe headache followed by left hemiparesis and facial palsy. Brain magnetic resonance imaging showed an acute infarction of the right temporofrontal lobe and basal ganglia on the T2- and diffusion-weighted images. Cerebral angiography showed pre-occlusive irregular scalloped stenosis (99%) in the proximal M1 segment of the... |
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... |
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare white matter disorder, first described in the early 1990s. The brain in patients with MLC appears swollen on MRI, with diffuse white matter abnormalities; in addition, there is an invariable presence of subcortical cysts, primarily in the anterior temporal region sparing the deep white matter, basal ganglia, thalami, and cerebellum. Patients... |
We report on 2 siblings with a partial trisomy of 7q (7q22→qter) and concomitant partial monosomy of 8p (8p23.3→pter), which were shown by FISH using probes located at the telomere region of each chromosome. All the balanced translocation carriers (father and a sister) in this family had a normal phenotype. The 2 siblings with the same abnormal karyotype had similar... |
Mixed connective tissue disease (MCTD) is characterized by diverse symptoms including rheumatoid arthritis, scleroderma, systemic lupus erythematosus, and dermatomyositis, associated with high titers of antibodies to extractable nuclear antigen (ENA), especially anti-ribonucleoprotein (anti-RNP) antibody. Since the first report of 25 cases with MCTD in adults, there have been only a few cases of MCTD reported in children. Here, we report... |
Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but... |
Paragonimiasis is a parasitic infection that occurs following the ingestion of infectious Paragonimus metacercariae from crabs or crayfish. Pulmonary paragonimiasis is the most common clinical manifestation of this infection, but several ectopic paragonimiasis cases have also been reported. Among them, cases of subcutaneous paragonimiasis are rare, especially in children. We report a case of subcutaneous paragonimiasis of the right abdominal... |
Purpose : The primary purpose of this study was to evaluate the growth and neuropsychologic function following treatments for pediatric hematologic and oncologic diseases. Healthy monozygotic twins served as ideal controls for comparison to exclude possible confounding factors. Methods : Seven children treated with various hematologic and oncologic diseases were included in the study: acute lymphoblastic leukemia (ALL; n=2), Diamond-Blackfan anemia... |
In this article, the following topics will be discussed: What is a developmental disability? What are the risk factors for developmental disability? What are the causes of delayed motor development? What are the early manifestations of developmental disability in young infants? What are the goals of early intervention and the forms or types of early intervention services? What are the... |
소아에서 드물게 보고되는 토로사-헌트 증후군은 둔하면서 지속적인 안와 주위의 통증과 안구운동 장애 및 해면동 주위의 뇌신경 침범을 특징으로 하는 질환으로 비특이적 염증조직에 기인한 것으로 알려져 있다. 이는 자연 치유도 가능하나 대개 스테로이드가 증상의 회복에 효과적이며 신속한 호전을 유도한다. 토로사-헌트 증후군은 그 예후가 양호하다고 알려져 있으나 일부는 치료 후에 재발하기도 한다. 우리는 토로사-헌트 증후군으로 진단받고 스테로이드 치료 후 특별한 휴우증 없이... |
Purpose : To evaluate the morbidity and mortality of children with status epilepticus(SE) as an initial seizure and to compare these according to age groups. Methods : The 78 cases(38 cases <2 years and 38 cases ≥2 years) with SE as an initial seizure admitted to the Chonnam national university hospital from Jan. 2000 to Jan. 2004 were reviewed. Developmental profiles,... |
An otherwise healthy, 8-year-old girl presented with vague abdominal pain, vomiting, and a tensely distended abdomen. Abdominal ultrasonography and computed tomography demonstrated a huge amount of jejunal material, about 10 cm long, resulting in near obstruction of the jejunum. The material was removed surgically and a postoperative pathologic report confirmed that it was a trichobezoar. A postoperative consultation with a... |
A healthy, 14-year-old boy presented with right hip pain and consequent fever after falling out of bed while sleeping. The patient could not walk and complained of severe pain with active and passive motion, which consisted mainly in extension and internal rotation of the right hip. Laboratory analysis of the peripheral blood identified leukocytosis and increased levels of acute phase... |
Purpose: Though more than 15 years have passed after introduction of Lorenzo's oil therapy in X- linked adrenoleukodystrophy(ALD), its efficacy is still fully not known. In patients who already have neurologic symptoms, most reports indicate that the neurologic disability continues to increase. We evaluated its efficacy in X-linked ALD patients. Methods: Four patients who were treated with Lorenzo's oil for at... |
Purpose : Neurologic complications(NC) after hematopoietic stem cell transplantation(HSCT) are important because of high mortality and severe sequelae. We analyzed the incidence, manifestation and risk factors of NC in 61 children undergoing HSCT. Methods : We retrospectively analyzed NC in 61 cases(42 male and 19 female, aged one to 16 years) given HSCT between 1996 and 2003 due to hematologic malignacies,... |
The most common obstruction of left ventricular outflow in childhood is produced either by a fibrous ring below the aortic valve, or by localized or diffuse muscular hypertrophy of the interventricular septum. Cardiac tumors causing subaortic stenosis in the newborn infant are extremely rare. This report describes two cases of subaortic stenosis caused by a tumor of the left ventricle... |
Purpose : Despite the advent of new and more potent antibiotics, mortality and morbidity rates due to bacterial meningitis remain stagnant. Rapid detection of microorganism and early antibiotics treatment are the most important prognostic factors of bacterial meningitis. For early diagnosis of bacterial meningitis biochemical markers such as lactic dehydrogenase, lactic acid, C-reactive proteia have been measured in cerebrospinal fluid.... |
Purpose : A majority of patients with neuronal migration disorders(NMDs) in cortical structures suffer from medically intractable epilepsy. The role of NMDs on seizure susceptibility or epileptogenecity has not been well documented. In the present study, we established an experimental model of NMDs in Sprague-Dawley rats by exposing fetal rats to external irradiation in order to demonstrate epileptogenic effect of NMDs lesions. Methods : Pregnant... |
Purpose : Fungal infections are an important cause of morbidity and mortality in patients with hematologic malignancies. The therapy of choice in documented or suspected invasive fungal infections has been intravenous Amphotericin B(AmB). Adverse effects such as fever, chills, thrombophlebitis, nausea or vomiting are common. A more serious adverse effect is potential renal impairment. As AmB administration mixed with Intralipid(AmB/Intralipid)... |
The authors observed the clinical findings of 36 patients with meconium aspiration syndrome(MAS) to evaluate the effect of early appropriated meconium suctioning on the morbidity and mortality of the syndrome. Patients in the study group, 20 babies born in Chonnam university Hospital, received appropriate meconium suction through endotracheal tube during and rig-ht after the delivery, while the patients in the... |
A retrospective study on patients with congenital hypothyroidism was undertaken. The following results were obtained from 17 patients, on whom follow up investigations were available. 1) Males outnumbered females. The etiologic classification revealed: thyroid agenesis (64.7%), dyshormonogenesis (23.5%), and ectopic thyroid (11.8%). 2) In two-thirds of cases the diagnosis were made under 1 year of age, with 23.5% of cases being diagnoses below 3 month and 41.2%... |
We experienced a extremely rare case of ectopic ACTH syndrome caused by Wilms tumor in a 4 year 8 month-old female patient. We performed specific radiologic and hormonal studies. Diagnosis was confirmed by histologic and biochemical findings of tumor mass after right nephrectomy. A brief review of related literature was made. |
Authors have observed a case of congenital hypoplastic anemia in 18 months old male patient who was diagnosed through the bone marrow aspiration. The liver was enlarged and the biopsy specimen disclosed iron deposition in the hepatocyte, which was thought to be resulted from multiple blood transfusion and administration of iron preparation. A brief review of related literature was made. |
A clinical observation and statistical management on 592 cases of epidemic encephalitis admitted to the department of pediatrics, Chonnam University Hospital with 10 years duration from 1971 to 1980 were carried out. The following results are obtained: 1) No periodical change was observed in annual incidence during these 10 years. 2) The annual incidence was higher when the annual average temperature was higher. Most of the... |