A case of Finnish Type of Congenital Nephrotic Syndrome

The Finnish type of Congenital Nephrotic Syndrome is characterized by large placenta, early manifestation, growth and developmental delay and resistance to treatment. Authors experienced a case of characteristic Finnish type of Congenital Nephrotic Syndrome in a girl, who was admitted to the Pediatric Department of KHUH at 2 1/1 months of age because of generalized edema and abdominal distension and died of pneumonia at 5 1/2 months of age. The diagnosis was made by birth history, clinical manifestation, laboratory findings and finally by the autopsy findings, Literatures are reviewed briefly.

Prednisolone-responsive Malignant Osteopetrosis: a case reveiw

The authors presented a 17 months old female with malignant osteopetrosis, who was admitted to the Pediatric Department of Kyung Hee University Hospital on May, 1981 because of epistaxis and growth retardation. Diagnosis was made by typical clinical manifestations, hematologic and radiologic findings, such as frontal bossing, opened anterior fontanel, exophalmoses, strabismus, optic atropy, marked hepatosplenomegaly, severe anemia, thrombocytopenia, reticulocytosis and typical mask sign and sun burst sign at the skull X-ray, wide dense ribs with fracture at the vertebrae, clubbings at the distal parts of the femurs and radii and at the proximal parts of the tibias and humerii transverse bands at the metaphyses, and finally increased density of the entire skeleton on the bone scanning and marked decrease uptake of 99mTc on the bone marrow scanning. Prednisolone was administrated orally, resulted in gradual improvement of hematologic abnormalities to the normal range, associated wited with increased cellularity of the bone marrow and increased uptake of 99mTc and decreased spleen size on the bone marrow scanning after one month of therapy.

Prednisolone-responsive Malignant Osteopetrosis: a case reveiw

The authors presented a 17 months old female with malignant osteopetrosis, who was admitted to the Pediatric Department of Kyung Hee University Hospital on May, 1981 because of epistaxis and growth retardation. Diagnosis was made by typical clinical manifestations, hematologic and radiologic findings, such as frontal bossing, opened anterior fontanel, exophalmoses, strabismus, optic atropy, marked hepatosplenomegaly, severe anemia, thrombocytopenia, reticulocytosis and typical mask sign and sun burst sign at the skull X-ray, wide dense ribs with fracture at the vertebrae, clubbings at the distal parts of the femurs and radii and at the proximal parts of the tibias and humerii transverse bands at the metaphyses, and finally increased density of the entire skeleton on the bone scanning and marked decrease uptake of 99mTc on the bone marrow scanning. Prednisolone was administrated orally, resulted in gradual improvement of hematologic abnormalities to the normal range, associated wited with increased cellularity of the bone marrow and increased uptake of 99mTc and decreased spleen size on the bone marrow scanning after one month of therapy.

Statistical Study on Visually Handicapped Children

A statistical study on visually handicapped children was performed by The Committee on Health of Korean Pediatric Association from July to October, 1978. 3,930 boys and girls in middle school children(3rd grade; around 15 years of age) were studied and the results were obtained as follows; 1, 788 out of 3,930 children(20.1%) were visually handicapped. There were no sex preponderance. 2. Annual incidence of visual handicap was 2.2% of all children studied. 3. There were no specific age preferance for handicapping and annual incidence of visual retardations among the handicapped children was 13.7%(10~19%). 4. Children wearing corrective glasses were 62.8% of all handicapped children and 69.8% of them were began to wear the glasses after entrance of middle school. 5. Nearly all of the handicapped children were suffered from symptoms related with visual defect and the most common difficulty was learning problems(67.5%). Headache(6.7%) and dizziness(5.5%) were another difficulties. 6. 92.5% of children wearing glasses were improved their symptoms related with poor visions but 79.8% of children wearing glasses were suffered form discomfortness by glasses itself. 7. The reasons wearing no glasses among the visual handicaps were advices by parents and friends due to bad effects of glasses on beauty(321.%), hesitation(30.7%) and shyness(13.3%). 8. High famillial incidence of visual handicaps were noted in visually handicapped children than with normal vision. 9. There were no difference between the children with defective vision and normal children on number of television sets at home, places of telvision set ups(children's room or parent?sroom), hours watching televison per day, presence or absence of children's study rooms and reading postures. 10. Habits of watching television or reading books from too short distance, improper illumination when they read the books at home were much more freqently observed in children with visual handicap than children with no defect.

3 Cases of so called MOYAMOYA Disease

The so called MOYAMOYA disease is characterized by idiopathic progressive bilateral occlusions of internal carotid arteries near the supraclinoid portion, with a distinctive picture of abnormal net like vessels in the base of the brain. The term MOYAMOYA is a Japanese expression for "PUFF OF A SMOKE", suggested by Suzuki & Takaku in 1969. We have experienced typical 3 cases of so called MOYAMOYA disease during 1979, which were confirmed by bilateral carotid angiography. All 3 cases were involved bilateral sides of the brain and the exact causes were not detected in spite of various laboratory examinations. All of our cases were compatible with the criteria of Moyamoya disease, suggested by Takeuchi in 1978. In addition to the case report a review of history, etiology & pathogenesis of Moyamoya Disease were discussed.

4 Cases of Duchenne type of Progressive Muscular Dystrophy

4 cases of Duchenne type of Muscular Dystrophy have been experienced in brothers of 6 years old boy, 8 years old boy whose limb girdle was involved, brothers of 9 years old boy and other brothers of 9 years old boy. Ina all cases, serum CPK levels were significantly increased and typical waddling gait and Gower's sigh were noticed. The muscle biopsy findings and electromygraphic findings were also compatible with progressive muscular dystrophy.We report with brief review of literatures.

Statistical study on physically and Mentally Handicaped Children

A study on physically and mentally handicaped children was carried out by health commttee of korean pediatric Association on August, 1977. 654 children in 5 special children's Institutes in Seoul area were observed and the results obtained were as follows ; 1. 393 out of 654 cases were males and male to female ratio was 6 : 4. The most Common age group in institutes were over 10 years (45.6%). As the age goes young, the number of cases were decreased. 2. 43.7% of all cases were orphans. 3. The most common handicap was cerebral palsy(33.3%). Poliomyelitis(24.0%) and mental retardation (20.0%) were the next and these 3 handicaps were ranged 78.1% of all handicaps. The other less common handicaps were Cong. Anomaly(8.1%), mongolism(4.3%) Tb spine or hip joint(2.1%) and microcephaly(2.0%) in order of frequency. 4. Handicaps originated from acquired and congenital were 37.5% and 15.9% respectively. But the remains were obscure in origin. Cong. Anomaly, mongolism and microcephaly were common causes of congenital origin and poliomyelitis, cerebral palsy and Tb hip or spine were frequently acquired. 5. Only 64 cases(18.0%) of cerebral palsy and mental retardation had Known Causes. These were caused by birth injury(24cases), prematurity, Kern icterus or meningigis. 6. 65.4% of all cases had mentally retardation. 87.2% of cerebral palsy nd 83.0% of congenital anomaly were mentally retarded and all cases with mongolism, microcephaly, hydrocephalus and spina bifida mental retardation. 7. The most common site of congenital anomaly was extremities or joints(47.1%) and multiple anomalies were 28.5% of all anomalies. 8. Less than 6 months of institution were common in paid cases(24.9%) in spite of 5~10 year in institule were common in orphans (28.3%). Even in paid cases, economic stase were very low level.

A Case of Congenital Syphilitic Nephrotic Syndrome

A case of congenital syphilitic nephrotic syndrome in 5-month old male infant was presented. The diagnosis was established by clinical, labortory, X-ray findings and good clinical response after penicillin therapy. A brief review of literature on syphilitic nephrotic syndrome was made.

Four Cases of Anencephaly with Multiple Anomalies

The incidence of anencephaly ranges from 0.1 to 6.7 per 1,000 births. Female fetuses predominated, especially among prematures, with a ratio of between 3 and 7 to 1. The infants are either stillborn or die within a few days of birth. By about 23 days?gestational age the neural tube is complete, except for an opening at each end, the anterior and posterior neuropores. Failure of closure of the anterior neuropore causes anencephaly. Ultrasound scanning of the skull in the anencephalic fetus, measurement of alpha-fetoprtein countent in amniotic fluid may also ve of help in rntrauterine diagnosis. Four cases of anencephaly with mutiple anomalies experienced at nursery of Kyung Hee University Hospital were reported with brief review of related literaures.