The authors have recntly experienced a case of Wilson's disease which was developed Kayser-Fleischer ring. The 13 years old male patient has dysarthria, slurring speech, choreiform movement and gait disturbance about for 2 years. The treatment was performed by B.A.L. and penicillamine and the result has been excellent up to date, 31/2 months after medical treatment. Physical examination on discharge were normal mentality, absence of tremors and pale Kayser Fleischer ring.
Adolescent ; Chorea ; Dysarthria ; Gait ; Hepatolenticular Degeneration* ; Humans ; Male ; Penicillamine ; Physical Examination ; Tremor

Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosis was confirmed by amino acid analyses and the SLC7A7 gene analysis. Her initial chief complaint was short stature below the 3rd percentile and increased somnolence for several months. Hepatosplenomegaly was noted, as were anemia, leukopenia, elevated levels of ferritin and lactate dehydrogenase, and hyperammonemia. Lysine, arginine, and ornithine levels were low in plasma and high in urine. The patient was a homozygote with a splicing site mutation of IVS4+1G > A in the SLC7A7. With the implementation of a low protein diet, sodium benzoate, citrulline and L-carnitine supplementation, anemia, hyperferritinemia, and hyperammonemia were improved, and normal growth velocity was observed.
Amino Acid Metabolism, Inborn Errors/complications/diet therapy/*genetics ; Antifungal Agents/therapeutic use ; Antigens, CD98 Light Chains/genetics ; Asian Continental Ancestry Group/*genetics ; Carnitine/therapeutic use ; Child, Preschool ; Citrulline/therapeutic use ; Diet, Protein-Restricted ; Disorders of Excessive Somnolence/complications/*diagnosis/drug therapy ; Female ; Growth Disorders/complications/*diagnosis ; Homozygote ; Humans ; Hypercalcemia/complications/*diagnosis ; Metabolic Diseases/complications/*diagnosis ; Mutation ; Nephrocalcinosis/complications/*diagnosis ; Republic of Korea ; Sequence Analysis, DNA ; Sodium Benzoate/therapeutic use ; Vitamin B Complex/therapeutic use

In this report, we describe the findings of diffusion MR imaging and proton MR spectroscopy in two infants with acute necrotizing encephalopathy in which there was characteristic symmetrical involvement of the thalami. Diffusion MR images of the lesions showed that the observed apparent diffusion coefficient (ADC) decrease was more prominent in the first patient, who had more severe brain damage and a poorer clinical outcome, than in the second. Proton MR spectroscopy detected an increase in the glutamate/glutamine complex and mobile lipids in the first case but only a small increase of lactate in the second. Diffusion MR imaging and proton MR spectroscopy may provide useful information not only for diagnosis but also for estimating the severity and clinical outcome of acute necrotizing encephalopathy.

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
Adrenal Hyperplasia, Congenital ; Adrenocorticotropic Hormone ; Antley-Bixler Syndrome Phenotype* ; Coccyx ; Congenital Abnormalities ; Craniosynostoses ; Cryptorchidism ; Disorders of Sex Development ; Female ; Fludrocortisone ; Hand ; Humans ; Hydrocortisone ; Infant, Newborn ; Inheritance Patterns ; Kyphosis ; Male ; Mass Screening ; Molecular Biology ; Parturition ; Phenotype ; Population Characteristics ; Spine ; Synostosis ; Tracheostomy

The nose occupies the most prominent position of the face, a position that makes it vulnerable to loss and deformity by trauma. The degree of loss and deformity usually dictates the type and quantity of tissue required for the most satisfactory reconstruction. The surgeon must consider all of the alternatives to reach the goal with the fewest number of procedures in the most predictable manner and to leave the least amount of donor deformity. Composite grafts of auricular skin and cartilage have been used for comparatively small nasal tip defect. We have reconstructed the nasal tip defect including alar and collumellar defect by 3 dimensional folding of composite ear graft. The method was satisfactory in achieving a good nasal projection. We report this method with the related references.
Cartilage ; Congenital Abnormalities ; Ear* ; Humans ; Nose ; Skin ; Tissue Donors ; Transplants*

PURPOSE: Congenital chloride diarrhea(CLD) is an autosomal recessive disease characterized by life-long watery diarrhea of prenatal onset with high fecal Cl concentration. Recent studies have revealed that the protein product of the down-regulated in adenoma(DRA) gene is an intestinal anion transporter molecule and causes CLD when mutatec4: We investigated the clinical characteristics of CLD in Korean infants in order to increase awareness of this disease, which might be simply overlooked as chronic diarrhea. METHODS: Medical records of 5 infants admitted to the pediatric departments of Eulji Medical Center and Seoul National 1Jniversity Children's Hospital from April 1988 to January 1998 with the diagnosis of CLD were retrospectively reviewed. The criteria for inclusion in the study were based on a typical clinical picture and high fecal Cl RESULTS: There were 4 boys and 1 girl, 2 of them were siblings with no consanguinity in their parents. Their ages ranged from birth to l4 months. The mean gestational age was 36 weeks and the mean birth weight was 2.99kg. In all patients abdominal distension, jaundice and watery diarrhea with a history of maternal polyhydramnios were found, lack of meconium passage was also documented and fecal Cl levels were greater than 90mmol/L. Three patients who were diagnosed beyond neonatal period had retarded growth and delayed development and presented hypochloremic hypokalernic dehydration. Two of thern were in a state of metabolic alkalosis. CONCLUSION: CLD should be considered in infants presenting with intractable watery diarrhea, abdominal distension, prematurity and history of polyhydramnios. Full replacement of the fecal losses of electrolytes ancl water can correct hypoelectrolyternic dehydration and will abolish[all the secondary] disorders. In this study we can be aware that with early detection and appropriate therapy infants with CLI) will achieve adequate growth and development.
Alkalosis ; Birth Weight ; Consanguinity ; Dehydration ; Diagnosis ; Diarrhea* ; Electrolytes ; Failure to Thrive ; Female ; Gestational Age ; Growth and Development ; Humans ; Infant* ; Jaundice ; Meconium ; Medical Records ; Parents ; Parturition ; Polyhydramnios ; Retrospective Studies ; Seoul ; Siblings ; Water

Non-alcoholic fatty liver disease (NAFLD) is typically associated with obesity and insulin resistance. Non-alcoholic steatohepatitis (NASH) is a more serious form of NAFLD. Although fibrosis is common in pediatric NASH, cirrhosis has been rarely reported. Patients with hypothalamic or pituitary dysfunction are at risk for obesity and insulin resistance with subsequent development of NAFLD. We report a case of NAFLD progressing to cirrhosis in an obese 16 year-old boy with hypopituitarism.
Fatty Liver ; Fibrosis ; Humans ; Hypopituitarism ; Insulin Resistance ; Obesity

Non-alcoholic fatty liver disease (NAFLD) is typically associated with obesity and insulin resistance. Non-alcoholic steatohepatitis (NASH) is a more serious form of NAFLD. Although fibrosis is common in pediatric NASH, cirrhosis has been rarely reported. Patients with hypothalamic or pituitary dysfunction are at risk for obesity and insulin resistance with subsequent development of NAFLD. We report a case of NAFLD progressing to cirrhosis in an obese 16 year-old boy with hypopituitarism.
Fatty Liver ; Fibrosis ; Humans ; Hypopituitarism ; Insulin Resistance ; Obesity

Glycogen storage disease (GSD) and mucopolysaccharidosis (MPS) are both independently inherited disorders. GSD is a member of a group of genetic disorders involving enzymes responsible for the synthesis and degradation of glycogen. GSD leads to abnormal tissue concentrations of glycogen, primarily in the liver, muscle, or both. MPS is a member of a group of inherited lysosomal storage diseases, which result from a deficiency in specific enzymatic activities and the accumulation of partially degraded acid mucopolysaccharides. A case of a 16-month-old boy who presented with hepatomegaly is reported. The liver was four finger-breadth-palpable. A laboratory study showed slightly increased serum AST and ALT levels. The liver biopsy showed microscopic features compatible with GSD. The liver glycogen content was 9.3% which was increased in comparison with the reference limit, but the glucose-6-phosphatase activity was within the normal limit. These findings suggested GSD other than type I. Bony abnormalities on skeletal radiographs, including an anterior beak and hook-shaped vertebrae, were seen. The mucopolysaccharide concentration in the urine was increased and the plasma iduronate sulfatase activity was low, which fulfilled the diagnosis criteria for Hunter syndrome (MPS type II). To the best of the authors' knowledge, this is the first case of GSD and Hunter syndrome being identified at the same time.
Animals ; Beak ; Biopsy ; Glucose-6-Phosphatase ; Glycogen ; Glycogen Storage Disease ; Glycosaminoglycans ; Hepatomegaly ; Humans ; Iduronate Sulfatase ; Infant ; Liver ; Liver Glycogen ; Lysosomal Storage Diseases ; Mucopolysaccharidoses ; Mucopolysaccharidosis II ; Muscles ; Plasma ; Spine

OBJECTIVE: To compare the incidence and clinical characteristics of tuberculosis (tbc) between patients with systemic lupus erythematosus (SLE) and kidney transplantation (KT) recipients. METHODS: Six hundreds and twenty-two patients who were diagnosed as SLE from 1990 to 2001 in Kang-Nam St. Mary's hospital were reviewed, retrospectively. As a control group, 347 kidney transplant recipients in the same center were evaluated. The extent of tbc was categorized into two groups: (1) limited disease (2) extensive disease. Cumulative steroid dosage and disease activity index including SLEDAI, serum complement levels, and anti-dsDNA titers were compared between the two groups. RESULTS: The cumulative incidence rate of tbc was similar in both groups (37 cases and 5.7% in SLE versus 17 cases and 4.9% in KT). Mean interval from SLE diagnosis or KT to tbc development was not different between the two groups. The most common site of tbc was lung/pleura, and the others included lymph nodes (2 cases), knee joint (1), bone marrow (1), central nervous system (1), kidney (1), colon (1), liver (1), and skin (1) in SLE. In contrast, most of tbc (16/17) developed exclusively in the lung and pleura in KT recipients. Cumulative doses of prednisolone 1 or 6 months before tbc diagnosis were not different between the two groups. Interestingly, extensive disease tended to be more frequent in SLE patients than in KT recipients although immuno-suppressants such as cyclosporine and azathioprine were more frequently administered in KT recipients. There were no differences in disease activity index including SLEDAI, complement levels, and anti-ds DNA titers at the time of tbc diagnosis as well as in the cumulative doses of steroid between extensive and limited diseases of tbc in SLE. CONCLUSION: The cumulative incidence rate of tbc was higher in SLE patients than in general population. The patterns of tbc tended to be more extensive in SLE compared to KT recipients in whom a stronger immuno-suppression was required, suggesting that immune dysfunction implicated by SLE itself may play an important role in determining the incidence and patterns of tbc infection.
Azathioprine ; Bone Marrow ; Central Nervous System ; Colon ; Complement System Proteins ; Cyclosporine ; Diagnosis ; DNA ; Humans ; Incidence ; Kidney ; Kidney Transplantation ; Knee Joint ; Liver ; Lung ; Lupus Erythematosus, Systemic* ; Lymph Nodes ; Pleura ; Prednisolone ; Retrospective Studies* ; Skin ; Transplantation ; Tuberculosis*