No abstract available.

The authors experienced a case of oculo-auriculo-vertebral syndrome(Goldenhar's syndrome) onsisting of epibulbar dermoid, preauricular appendages, pretragal blind fistula, and spina bifida in 16 year old girl. We are presenting the above case with reference to several literatures.
Adolescent ; Dermoid Cyst ; Female ; Fistula ; Humans ; Spinal Dysraphism

Intermittent exotropia at times is completely controlled by the convergence mechanisms and at other times escapes this control and becomes a manifest exotropia. The treatment of choice is surgical and the treatment is directed at normalization of binocular functions, and recurrence and overcorrection are frequently seen after surgery. Therefore it is important to decide the time and the type of surgery. The author experienced 66 cases of intermittent exotropia in which surgery was done. Surgery was indicated in the cases with deviation of 20 PD or more, deviation of less than 20 PD with asthenopia, exotropia occurred during more than 40% of waking hours, and deterioration of stereoacuity even at early age. Bilateral recession was initial procedure regardless type of intermittent exotropia. In the case with amblyopia, however, R and R was done on the amblyopic eye and in convergence insufficiency type bimedial resection. Lateral Incomitancy was present in 37.9%. The basic type which was shown in 68.2% was the most frequent one. The amount of esodeviation was 15 to 10 PD in 43.9% and 11 to 15 PD in 21.2% on the first postoperative day. The phoria within 10 PD was shown in 95.4% 6 weeks after surgery, in 98.5% 3 months after surgery, and in 93.9% 6 months after surgery. Six months after surgery, 4 cases revealed exodeviation above 16 PD and no case esodeviation. Stereopsis was tested in 54 cases who understood the test before operation and 43 cases(79.6%) showed stereopsis. Nine out of 11 cases who had no stereopsis showed stereopsis after operation. In this study, success rate of first surgery was as high as 93.9% in 6 months follow-up and stereopsis was restored in considerable number of cases in intermittent exotropia compared to other types of strabismus and binocular function could also be restored and improved after surgery.
Amblyopia ; Asthenopia ; Depth Perception ; Esotropia ; Exotropia* ; Follow-Up Studies ; Ocular Motility Disorders ; Recurrence ; Strabismus ; Telescopes ; United Nations

We report a case of neuroblastoma with multiple skin metastases as a chief complaint in a 2-month-old girl. the skin lesions were rnultiple, pea-sized, bluish, nontender, moable subcutaneous nodules on abdomen, back and scalp. Histopathology showed small round or poly gonal tumor cells which have deeply stained, basophilic, hyperchromatic nuclei with some mitoses. Th.se tumor cells showed clumping tendency which is one of early menifestations of rosette formation. Immunohistochemically positive reaction was demonstrated by anti-NSE(neuron specific enolase) antilody but negative reaction by anti-NFP (neurofilament proteiin ) antibody. She has been succesfully treated with combined chemotherapy for 10 months without relapse.
Abdomen ; Basophils ; Drug Therapy ; Female ; Humans ; Infant ; Mitosis ; Neoplasm Metastasis* ; Neuroblastoma* ; Phosphopyruvate Hydratase ; Recurrence ; Rosette Formation ; Scalp ; Skin*

BACKGROUND: Hereditary spherocytosis(HS) is a clinically and biochemically very heterogeneous disorder The purpose of this study is to detect erythrocyte membrane protein abnormalities by SDS-PAGE and to investigate the frequency of erythrocyte membrane protein defects in hereditary spherocytosis and correlation between some of the hereditary spherocytosis biochemical subsets and the selected clinical phenotype. METHODS: We evaluated the clinical and laboratory characteristics of 14 normal healthy persons and 23 hereditary spherocytosis patients and 8 their family members. The patients were divided into three groups based on clinical and hematological severity(mild, typical, severe). In addition to routine hematologic determlnatlons, osmotic fragility and autohemolysis, RBC membrane protein analysis were performed in all patients by densitometric tracing of SDS-PAGE(sodium dodecyl sulphate polyacrylamide gel electrophoresis) stained by Coomassle blue utilizing both the discontinuous buffer system of Laemmli with acrylamide linear gradient from 4% to 12% and the continuous buffer system of Fairbank with exponential gradient of acrylamide from 3.5% to 17%. RESULTS: 1) The patients could be seperated into three classes of different clinical severity as mild(3 cases), moderate(16 cases) and severe(4 cases) on the clinical feature. 2) Eighteen patients(82.6%) among 23 hereditary spherocytosis revealed abnormal erythrocyte membrane protein and we detected six patients(26.1%) with spectrin deficiency combined with ankyrin reduction, 4 patients(17.4%) with ankyrin deficiency, 4 patients(17.4%) with isolated spectrin deficiency and 3 patients(13.0%) with band 3 deficiency. Five HS patients(21.7%) showed normal RBC membrane protein. 3) Eight HS and their family members showed same RBC membrane protein deficiency. 4) The type and degree of RBC membrane protein reduction were variale with spectrin at 66~94%, with ankyrin at 48~82% of normal levels. These showed that each patient had different clinical severities according to different RBC membrane protein levels and type. CONCLUSION: RBC membrane protein abnormalities were observed in 82.6% of HS patients. The combined spectrin and ankyrin deficiency is the most common molecular defect in HS. The clinical severity and biochemical expression is heterogeneous. SDS-PAGE analysis of RBC membrane protein was provided the diagnosis of RBC membrane defects and basic molecular studies. We believed that the early identification of the biochemical defect responsible for HS is important because it is helpful starling point for the identification of the primary molecular defect, and it could help to anticipate the clinical outcome of the disease. For these reasons, we consider the SDS-PAGE of the red cell membrane to be of crucial importance for a complete evaluation of children with HS. Further studies with more cases would be to clarify the correlation between clinical and biochemical phenotypes.
Acrylamide ; Ankyrins ; Cell Membrane ; Child ; Diagnosis ; Electrophoresis, Polyacrylamide Gel* ; Erythrocyte Membrane* ; Erythrocytes* ; Erythrocytes, Abnormal ; Humans ; Membrane Proteins ; Membranes ; Osmotic Fragility ; Phenotype ; Population Characteristics* ; Spectrin ; Starlings