Necrotizing enterocolitis(NEC) is the most common life-threatening surgical emergency in neonates, and remains a major cause of morbidity and mortality. In addition to conventional laparotomy, intraperitoneal drains have been used for the treatment of perforated NEC, especially in extremely low birth weight(ELBW) infants. We report a case of perforated NEC with bacterial peritonitis in an ELBW infant managed with primary... |
Multicystic dysplastic kidney and congenital cystic adenomatoid malformation of the lung are independent disorders, but both result from abnormal morphogenesis during embryogenesis. Congenital cystic adenomatoid malformation of the lung is associated with renal anomalies as well as other extrapulmonary anomalies and almost all cases with these anomalies are stillborn. We report a case of a 21-month-old male who was... |
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... |
Hepatoblastoma is a hepatic tumor predominantly occurring in children. The usual site of metastasis is the lung. There are only several reports worldwide on the distant metastasis of hepatoblastoma to the central nervous system in children. Only one reported case showed survival of a patient after multiple resections of a recurrent brain lesion. Involvement of the cardiovascular system has been... |
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... |
Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by : skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include : dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS... |
The major pathogenesis of acute respiratory distress syndrome (ARDS) is an inflammatory process that results from a diversity of injuries to the body. Due to the various cytokines and vasoactive peptides released from the endothelium, the vascular permeability is increased; the migration of inflammatory cells and the leakage of plasma proteins then occur and edema develops in the alveolus. There... |
Achromobacter xylosoxidans is an aerobic gram-negative bacillus that may cause opportunistic infections in immunocompromized patients and newborns. Neonatal scalp abscess is generally a complication of fetal scalp monitoring and is typically polymicrobial. We present a case of a newborn, delivered by vacuum extraction, who developed a scalp abscess that yielded growth of Achromobacter xylosoxidans. |
Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect... |
Toxic epidermal necrolysis (TEN) is a rare, acute and life-threatening cutaneous drug reaction. TEN is characterized by the sudden onset of extensive necrosis in the epidermis and frequent mucous membrane involvement. The pathogenesis has not yet been elucidated. In addition, no particular treatment for TEN has been established. We report a case of TEN in a 14-year-old-boy, which might have... |
Alkaptonuria is a rare metabolic disease in which homogentisic acid cannot be metabolized due to a lack of the enzyme homogentisic acid oxidase. The disease often manifests itself in childhood by darkening of the urine upon standing. The disease leads to such serious consequences as ochronosis of cartilage and connective tissues with arthritis. It is expected that treatment with ascorbic... |
Chyluria is the passage of milky urine due to the leakage of lymph into the urinary tract. Chyluria occurs predominantly in adults and is rare in children. We present an unusual case in which a child with proteinuria, hematuria and milky urine was subsequently diagnosed with non-parasitic chyluria. Retrograde cystogram confirmed a lymphatico-calyceal communication. This case showed spontaneous remission. The... |
Neurocutaneous melanosis is a rare congenital syndrome characterized by the presence of large or multiple congenital melanocytic nevi and benign pigment cell tumors of the leptomeninges. Neurocutaneous melanosis is thought to represent an error in the morphogenesis of embryonal neuroectoderm. We experienced a neonate who presented with giant, dark colored pigmented nevi covering chest, abdomen, neck and arms, with satellite... |
Dyke-Davidoff-Masson Syndrome (DDMS) is a rare condition characterized by asymmetry of cerebral hemispheric growth with atrophy on one side, ipsilateral compensatory osseous hypertrophy, and contralateral hemiparesis. We experienced a 17 month-old male who presented with left focal clonic or tonic-clonic seizures accompanied by left hemiparesis and developmental delay. Brain MRIs demonstrated progressive atrophy of the right cerebral hemisphere with dilatation... |
Neurofibromatosis type 1 (von Recklinghausen disease, NF1) involves the central and peripheral nervous systems as well as the skin, bone, endocrine, gastrointestinal and vascular systems. The gastrointestinal neurofibroma associated with NF1 has been infrequently reported. We report our experience with a 15-year-old boy who had a gastric plexiform neurofibroma with upper gastrointestinal bleeding and underwent a tumorectomy because of massive... |
Crohn disease (CD) is rare, but the incidence of CD has been increasing over the past ten years. We found two cases of CD, associated with myelodysplastic syndrome (MDS), for the first time in children. In the first patient, MDS was diagnosed at three years of age and CD developed later at eight years of age. The patient presented with... |
Histiocytic necrotizing lymphadenitis, which is also commonly referred to as Kikuchi's disease (KD), is a self-limiting disease of unknown etiology. It affects individuals of all ages, although it is usually seen in young women. However, only a few descriptions of this disease are available in the pediatric literature. KD is clinically characterized by cervical lymphadenopathy, high fever, myalgia, neutropenia and,... |
A 3-year-old girl presented with polydipsia, polyuria, hyponatremia, hypertension and congestive heart failure. Her polyuria was unresponsive to water restriction and vasopressin challenge tests, and her blood pressure was not effectively controlled by antihypertensive drugs. Radiologic examinations revealed a Wilms' tumor in the right kidney. Her plasma renin activity and aldosterone concentration were greatly increased. After surgical removal of the... |
The long arm duplication of chromosome 3 was reported for the first time in 1966 by Falek et al., and Hirschhorn et al. came to identify the duplication of 3q21 qter region in 1973. In most cases of duplication 3q syndrome patients, pure duplication of 3qter is believed to be rare and is often reported accompanied with deletion of another... |
Paragonimiasis is the infestation of lung flukes of the trematode genus Paragonimus. This disease is common in Asia, and the southern part of Korea has been known as one of the endemic areas of Paragonimiasis westermanii in Korea. Human infection is associated with specific dietary habits, such as eating freshwater crawfish or crabs. In a 6 1/2-year-old boy with pleural... |
Pulmonary atresia with intact ventricular septum (PAIVS) is rare, less than 1% of congenital heart disease. It needs a therapeutic approach according to its individual morphologic feature. Surgical treatment of valvotomy and modified Blalock-Taussig shunt or non-surgical interventional catheter balloon valvuloplasty can be used for mild to moderate hypoplasia of right ventricle. Fontan operation can be considered for less optimum... |
Abnormalities in the levels of thyroxine-binding globulin (TBG) are not associated with clinical disease and they do not require treatment. Congenital TBG deficiency is inherited in an X-linked manner. To date, some complete and partial TBG variants and one polymorphism have been identified by analysis of the TBG gene. Two male neonates were referred to us because of their low... |
The traumatic ventricular septal defect (VSD) is a rare but potentially life threatening complication of chest wall injury. The traumatic VSD occurs in up to 4.5% of penetrating cardiac trauma. Most of the patients are usually operated on because of heart failure and/or significant left-to-right shunt. The feasibility of surgical repair under cardiopulmonary bypass may be affected by coexisting pulmonary,... |
Young Simpson syndrome is a rare malformation syndrome characterized by congenital hypothyroidism, dysmorphic face, mental retardation, severe postnatal growth retardation, hypotonia and congenital heart abnormalities. In the present study, we report a case of 4-year-old girl with Young Simpson syndrome for the first case in Korea. |
We encountered two children with lead poisoning who were administered herb medicinal pills recommended by their clergyman. These patients presented anemia and severe coliky abdominal pain, but no neurologic symptoms. For this reason, they were initially misdiagnosed with gastrointestinal hemorrhagic disease. However, we got a clue that they took herb medicinal pills. Finally, based on the assay of blood lead... |
Hemangiomas are the most common benign tumors of infancy. Fifteen to 30% of these patients have multiple hemangiomas. Diffuse neonatal hemangiomatosis (DNH) is a disease that often has a fatal outcome if left untreated, and is characterized by multiple cutaneous and visceral hemangiomas. Corticosteroids are the commonly accepted first line treatment, but if no effect is seen, further treatment is... |
Intussusception and Meckel's diverticulum are very rare disorders in intrauterine or neonatal periods, which are causes of intestinal obstruction. We experienced a case of intussusception due to Meckel's diverticulum which caused intestinal obstruction in the neonate who had bilious vomiting a few hours after birth. We report this case with a brief review of the literature. |
Kawasaki disease (KD) is a leading cause of acquired heart disease in children. Yet the etiology of KD is still unknown and diagnosis depends on the exclusion of other diseases and the clinical manifestations meeting the defined criteria. Young infants frequently show atypical clinical courses and are frequently complicated with coronary aneurysms. Some cases show thrombocytopenia, which is known as... |
We report a case of cat scratch disease (CSD) caused by Bartonella henselae in a 14-year-old boy who developed lymphadenopathy in the right cervical area, after a raising canine pet for 10 months. The cervical lymphadenopathy persisted for 14 days. Immunofluorescent antibody testing for B. henselae with the patient's serum was 1:64 positive. Polymerase chain reaction (PCR) analysis using the... |
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