ABSTRACT
Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.
Subject(s)
Humans , Infant , Male , Atrophy , Brain , Carnitine , Caudate Nucleus , Diagnosis, Differential , Fibroblasts , Gastroenteritis , Glutaryl-CoA Dehydrogenase , Hydroxylysine , Immunization , Lysine , Megalencephaly , Magnetic Resonance Imaging , Metabolism , Milk , Muscle Hypotonia , Neurologic Manifestations , Parturition , Putamen , Riboflavin , Tandem Mass Spectrometry , TryptophanABSTRACT
PURPOSE: The purpose of this study is to analyze the epidemiologic characteristics of sudden unexpected death in infancy and to evaluate the importance of postmortem autopsy. METHODS: We reviewed, retrospectively, medical records of 34 infants admitted to Kangnam General Hospital from January 1987 to December 2001 because of sudden unexpected death. We investigated the cause of death through medical history, death scene examination, autopsy findings, acylcarnitine and organic acid analysis. RESULTS: Among the total 34 infants, 18 were male(52.9%) and 16 were female(47.1%). Thirty infants(88%) were below the six months of age. Winter was the most affected season(38.2%). Eighteen infants(52.9%) died between 6 and 12AM. The prone sleeping position was observed more frequently than the supine position at death; nine cases in the prone position, six cases in the supine position. The cause of death of 23 cases could not be found by only history and death scene examination. Autopsy was done in 13 cases. Seven cases of them were thought to be SIDS. In six cases, we explained the cause of death with autosy findings. They were an endocardial fibroelastosis, a nesidioblastosis, a subdural hematoma, a bronchopneumonia and two fatty changes of liver. Metabolic screening tests performed in three cases to rule out metabolic disorder since 2000 were all normal. CONCLUSION: We concluded that autopsy and metabolic screening test should be performed to find out the cause of death in sudden unexpected death in infancy.
Subject(s)
Humans , Infant , Autopsy , Bronchopneumonia , Cause of Death , Endocardial Fibroelastosis , Hematoma, Subdural , Hospitals, General , Liver , Mass Screening , Medical Records , Nesidioblastosis , Prone Position , Retrospective Studies , Sudden Infant Death , Supine PositionABSTRACT
Marshall-Smith syndrome is characterized by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a one-month-old male infant with of this rare syndrome, with laryngeal anomalies who died at 6 months of age with pneumonia. This is the first case of Marshall-Smith syndrome in Korea.
Subject(s)
Humans , Infant , Male , Failure to Thrive , Korea , PneumoniaABSTRACT
PURPOSE: Accurate diagnosis of group A streptococcal(GAS) pharyngitis and appropriate antimicrobial therapy are important, particularly to prevent nonsuppurative sequelae and to reduce the improper use of antibiotics. Because the clinical presentation of pharyngitis does not reliably predict the etiologic agent, when GAS infection is suspected, diagnosis should be based on the result of a throat swab culture or antigen-detection test with culture back-up. METHODS: We reviewed retrospectively the medical records of children diagnosed as GAS pharyngitis by throat swab culture from Jan. 1995 to Jul. 2000. Since Nov. 1998, specimens were also tested with the Abbott's Testpack+plus Strep A Kit. RESULTS: 121 patients were confirmed as GAS pharyngitis by throat culture. GAS pharyngitis predominantly occurred from 3 to 7 years of age with the peak incidence at 4 and 5 years of age. The disease was more frequent in late fall, winter and spring. Clinical manifestations were as follows; fever(89.9%), abnormal pharynx(94.3%), of which exudate in 33.6%, sore throat(85.3%), headache(78.1%), cervical lymphadenopathy(67.5%), abdominal pain(64.3%), and nausea or vomiting (55.0%). The sensitivity and specificity of rapid antigen test compared to throat culture were 96.4% and 95%, respectively. CONCLUSION: GAS pharyngitis occurred every year, and more frequently in late fall, winter and spring. It occurred with the greatest frequency in preschool children. The rapid antigen test can be a basis for clinicians to decide how to treat their patients before the culture results are proven, and can be helpful to judicious use of antibiotics as well.
Subject(s)
Child , Child, Preschool , Humans , Anti-Bacterial Agents , Diagnosis , Exudates and Transudates , Incidence , Medical Records , Nausea , Pharyngitis , Pharynx , Retrospective Studies , Sensitivity and Specificity , VomitingABSTRACT
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Subject(s)
Child , Female , Humans , Arm , Chromosomes, Human, Pair 4 , Diagnosis , Hypertelorism , Intellectual Disability , Lip , Wolf-Hirschhorn SyndromeABSTRACT
Wolf-Hirschhorn syndrome is a multiple malformation syndrome associated with mental and developmental retardation, resulting from a deletion at the short arm of chromosome 4 (4p16.3). We report a 11-year-old girl with Wolf-Hirschhorn syndrome, who was presented with severe growth and mental retardation along with characteristic features-frontal bossing, hypertelorism, downslanting of the palpebral fissures and fishlike lips. The diagnosis was confirmed by fluorescent in-situ hybridization (FISH).
Subject(s)
Child , Female , Humans , Arm , Chromosomes, Human, Pair 4 , Diagnosis , Hypertelorism , Intellectual Disability , Lip , Wolf-Hirschhorn SyndromeABSTRACT
We report a case of SLE with antiphospholipid antibodies presented initially with severe bleeding. A six-year-old boy was admitted due to severe nasal bleeding for 2 months. The boy showed typical malar rash. The laboratory tests indicated that his platelet count was 80,000/mm3 and the PT and the aPTT were markedly prolonged. A number of clotting factors were decreased, including factorsll<12%, Vll: 42%, lX : 38%, Xl: 41%, and Xll: 16%. Urinalysis showed hematuria and proteinuria, and 24-hour urine protein was 1.37g/day. Venereal Disease Research Laboratory (VDRL) test was false positive, Coombs test, lupus anticoagulants and anticardiolipin antibodies (IgG and IgM) were positive. His symptoms and laboratory tests fulfilled the criteria of SLE with antiphospholipid antibody. Renal pathology showed lupus nepritis (diffuse proliferative glomerulonephritis, class lV). After steroid therapy, his nasal bleeding stopped immediately, and laboratory findings became normalized. This case showed the tendency of paradoxic bleeding, instead of the expected thrombosis which can be found in this type of patient. We anticipate it is mainly due to pronounced prothrombin deficiency.
Subject(s)
Humans , Male , Antibodies, Anticardiolipin , Antibodies, Antiphospholipid , Anticoagulants , Coombs Test , Epistaxis , Exanthema , Glomerulonephritis , Hematuria , Hemorrhage , Hypoprothrombinemias , Lupus Erythematosus, Systemic , Pathology , Platelet Count , Proteinuria , Sexually Transmitted Diseases , Thrombosis , UrinalysisABSTRACT
We report a case of SLE with antiphospholipid antibodies presented initially with severe bleeding. A six-year-old boy was admitted due to severe nasal bleeding for 2 months. The boy showed typical malar rash. The laboratory tests indicated that his platelet count was 80,000/mm3 and the PT and the aPTT were markedly prolonged. A number of clotting factors were decreased, including factorsll<12%, Vll: 42%, lX : 38%, Xl: 41%, and Xll: 16%. Urinalysis showed hematuria and proteinuria, and 24-hour urine protein was 1.37g/day. Venereal Disease Research Laboratory (VDRL) test was false positive, Coombs test, lupus anticoagulants and anticardiolipin antibodies (IgG and IgM) were positive. His symptoms and laboratory tests fulfilled the criteria of SLE with antiphospholipid antibody. Renal pathology showed lupus nepritis (diffuse proliferative glomerulonephritis, class lV). After steroid therapy, his nasal bleeding stopped immediately, and laboratory findings became normalized. This case showed the tendency of paradoxic bleeding, instead of the expected thrombosis which can be found in this type of patient. We anticipate it is mainly due to pronounced prothrombin deficiency.
Subject(s)
Humans , Male , Antibodies, Anticardiolipin , Antibodies, Antiphospholipid , Anticoagulants , Coombs Test , Epistaxis , Exanthema , Glomerulonephritis , Hematuria , Hemorrhage , Hypoprothrombinemias , Lupus Erythematosus, Systemic , Pathology , Platelet Count , Proteinuria , Sexually Transmitted Diseases , Thrombosis , UrinalysisABSTRACT
No abstract available.
Subject(s)
Humans , Infant, Newborn , Streptococcus pneumoniae , StreptococcusABSTRACT
We analyzed the clinical and laboratory features of ten children with acute megakaryoblastic lukemia (M7)and compared the findings with those reported in the literature. The diagnosis was supprted by ultrastructural examination of platelet peroxidase or immunophenotyping for glycoprotein IIb/IIIa. Of the ten children, five were girls and five were boys. The median age at diagnosis was 13 months. Two patients had prominent myelofibrosis and one patient had Down syndrome. Nine patients were treatd with low-dose cytosine arabinoside (10mg/m2)administered intravenously, or subcutaneously, or intramuscularly, twice daily in 21 day courses. Seven patients achieved hematologic response and three patients are alive without evidence of disease. The 4 year event free survival rate was30.0%. It is our impression that the prevalence of acute megakaryoblastic leukemia has been under-estimated, and low-dose cytosine arabinoside treatment may be of value in its management. This approach may be particularily useful in hospitals with scarce well-equipped facilities, since this protocol does not induce profound marrow hypoplasia and intensive supportive measures are not required as they would be with the use of more aggressive drug combination.
Subject(s)
Child , Female , Humans , Blood Platelets , Bone Marrow , Cytarabine , Diagnosis , Disease-Free Survival , Down Syndrome , Glycoproteins , Immunophenotyping , Leukemia, Megakaryoblastic, Acute , Megakaryocyte Progenitor Cells , Peroxidase , Prevalence , Primary MyelofibrosisABSTRACT
A case of recurrent rhinocerebral mucormycosis that has occurred during an induction chemotherapy for acute megakaryocytic leukemia in a 10 year-old boy is reported. He had suffered from high fever, proptosis, right eye ball pain and necrotic inflammation of hard palate during the chemotherapy of leukemia. CT scan of the paranasal sinus showed inflammatory change of right ethmoid and maxillary sinuses, and right orbital cystic mass which displaced medial rectus muscle. Pathologic examination of the inflammatory mass revealed mucormycosis with characteristic hyphae invading vessel walls. He was managed with 2 times of extensive debridement of necrotic tissue and currettage of cystic mass, and intravenous amphotericin-B for 80 days with apparent improvement. Seven months after discharge from the hospital, necrosis of posterior nasal septum and hard palate was noted for second time. It was managed again with 2 times of extensive debridement. Since this last operation he is on follow-up for 16 months uneventfully and is on therapy with low dose Ara-C in continuous remission.
Subject(s)
Child , Humans , Male , Cytarabine , Debridement , Drug Therapy , Exophthalmos , Fever , Follow-Up Studies , Hyphae , Induction Chemotherapy , Inflammation , Leukemia , Leukemia, Megakaryoblastic, Acute , Maxillary Sinus , Mucormycosis , Nasal Septum , Necrosis , Orbit , Palate, Hard , Tomography, X-Ray ComputedABSTRACT
A totally implanted venous access system was inserted in 19 children with cancer. The devices were utilized for the administration of antineoplastic drugs, parenteral fluids, antibiotics, and blood products. Total duration of implantation was 4,046 days for 23 implanted system (range 7-445 days). Complications included cather infection (0.247/100 catheter days), occlusion (0.692/100 catheter days), and dislodgement of needle (0.643/100 catheter days). There were major complications that necessitated removal of catheters, including systemic infections (0.09/100 catheter days) and complete occlusions (0.09/100 catheter days). The system was thought to be safe and convenient in chemotherapy, and permitted full physical activity.
Subject(s)
Child , Humans , Anti-Bacterial Agents , Antineoplastic Agents , Catheters , Drug Therapy , Motor Activity , Needles , Prospective StudiesABSTRACT
No abstract available.