Trisomy 9 mosaicism is a disease characterized not only by intrauterine growth retardation and mental retardation but also congenital heart defects, musculoskeletal, genitourinary and CNS anomalies, as well as craniofacial anomalies such as microcephaly, micrognathia, narrowed temples, prominent occiput, broad-based nose with bulbous tip, low set ears, deeply set eyes, short palpebral fissure and small mouth. This syndrome was first reported back in 1973... |
Purpose : In most instances, constipation is considered as idiopathic or functional. The total colonic transit time, traced by radio-opaque markers, makes possible the identification of the colon segment that has the motility alteration that causes constipation. We measured the total and segmental colonic transit time in children with chronic idiopathic constipation and compared the results with those without constipation... |
Purpose : Febrile seizure is the most common type of seizure affecting 3-4% of children. The recurrence rate of febrile seizure is approximately 33%. About 16% of children with a febrile seizure during the febrile illness have a recurrent seizure attack within 24 hours. This study aimed to investigate the optimum dose of diazepam to reduce the recurrence of febrile... |
Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the cri-du- chat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and... |
Fryns syndrome is a lethal syndrome of multiple congenital anomalies first described by Fryns et al in 1979. A recently developed major diagnostic criteria includes abnormal face, small thorax with widely spaced hypoplastic nipples, distal limb and nail hypoplasia, lung hypoplasia with diaphragmatic hernia, central nervous system anomalies and congenital heart disease. The pathogenesis of Fryns syndrome is not clear.... |
Primary hypomagnesemia is a rare inherited disorder and it is considered to be due to either a defect in the intestinal transport of magnesium or a defect in renal tubular transport. It is important to measure the urinary excretion of magnesium to differentiate the causes of magnesium deficiency. We report here an one-month-old female infant of primary hypomagnesemia who presented... |
Prader-Willi syndrome(PWS) was first described by Prader et al in 1956. This syndrome is characterized by diminished fetal activity, low birth weight, infantile hypotonia with feeding problem, temperature instability, early onset of childhood hyperphagia with consequent obesity, short stature, hypogonadism and mental retardation. The deletion of chromosome 15(del 15(q11-13)) was reported by Ledbetter in 1981, which was thought to be... |
Hypomelanosis of Ito is a congenital neurocutaneous syndrome with a particular pattern of streaks, patches and swirling hypopigmentation over variable portions of the body surface. Multiple extracutaneous abnormalities involving the central nervous system, musculoskeletal structures and the eyes occur in over two-thirds of the cases. This report describes a patient with typical unilateral cutaneous lesions associated with extracutaneous features, including... |
Agenesis of corpus callosum occurs sporadically and may be transmitted as sex-linked, or autosomal-dominant or recessive traits. It has been associated with different syndromes. Clinical pictures vary from severe intellectual and neurologic abnormalities to asymptomatic and normaly intelligent cases. Agenesis of corpus callosum may occur alone, but it is more frequently associated with a high incidence of other anomalies. We... |
Purpose : Ceftriaxone, a parenteral third-generation cephalosporine, is widely used in the treatment of various bacterial infections. It possesses high calcium-binding affinity, forming complexes with calcium in bile salts to develop precipitate that mimics gallstone on ultrasonography. Biliary pseudolithiasis resolves completely with cessation of therapy, but several symptomatic patients have undergone cholesystectomy. We prospectively evaluated the incidence, risk factors and... |
Purpose : Atopy is a state of allergic response, mediated by IgE, to common environmental allergens. In recent decades, there has been an increase in prevalence of atopic disorders in children in developed countries. The factor associated with the rise of atopy incidence may be declining exposure to some infection opportunities. The aim of this study is to determine if... |
Congenital acute leukemia is a rare disorder with approximately 200 cases reported. It is defined as a childhood leukemia occurring at birth or before 1 month of age at a rate of 1%. Acute leukemias are generally classified according to morphology, cytochemistry and cell surface marker expression. Most leukemias conform to an ordered lineage-specific pattern of gene expression, but a... |
Purpose : Although the diagnosis of foreign bodies in the airway can be made early, retained and neglected foreign bodies are a common occurrence. The objective of this study was to characterize the clinical features of children diagnosed beyond 14 days following inhalation of a foreign body, long-standing foreign body in airway(LFB). Methods : We reviewed the records of 180 cases... |
Purpose : Mycoplasma pneumoniae pneumonias have been one of the most common causes of lower respiratory tract diseases during childhood. It is suggested that pathologic changes seen in the lung tissues were the histologic expression of the host immune response. The aim of this study was to determine the relationship between the chest radiographic pattern of Mycoplasma pneumoniae pneumonia and... |
Purpose : To determine whether C-reactive protein(CRP) can be used as a parameter to assess the safety of discontinuing antibiotic therapy and allows a shorter course of therapy in neonates treated for suspected bacterial infection. Methods : We have experienced 193 cases of suspected neonatal bacterial infection at Pusan Maryknoll Hospital. CRP levels were measured daily by immunonephelometry. Infants with initial... |
Purpose : Many different conditions result in pleural effusions(PEs) and making the differential diagnosis of PE is difficult. The purpose of the present study was to document the change of incidence and compare the etiologies of PEs with regards to age, the sidedness and characteristics of PE. Methods : During the 10-year period from 1986 to 1995, thoracentesis was performed in 197 children with PEs... |