No abstract available.
Diagnosis, Differential* ; Parkinson Disease, Secondary*

Sjogren-Larsson Syndrome is a rare disorder chracterized by congenital icthyosis, spastic diplegia or tetraplegia and mental retardation. The inheritance is autosomal recessive, due to deficiency of alcohol dehydrogenase activity of fatty acid matabolism. We have experienced a case of Sjogren-Larsson Syndrome in a 16 month-old male children who have dried thick skin, developmental delay, and spastic diplegia. He also has glistening spot on macula area with irregular high voltage slow wave (2-3Hz) on electroencephalography. From Biopsy finding, Lamella ictyosis with acanthosis and hyperkeratosis in epithelium is shown. He was much improved clinically for skin lesion and developmental status with etretinate supplement. We report the case with brief review of related literatures.
Acitretin ; Alcohol Dehydrogenase ; Biopsy ; Cerebral Palsy ; Child ; Electroencephalography ; Epithelium ; Etretinate ; Humans ; Infant ; Intellectual Disability ; Male ; Quadriplegia ; Sjogren-Larsson Syndrome* ; Skin ; Wills

No abstract available.
Humans ; Liver Cirrhosis* ; Liver* ; Sepsis* ; Vibrio cholerae* ; Vibrio*

The effect of dietary zinc deficiency on the enzymatic components of free radical defense system was observed in the skin of rats. We measured the concentration of serum zinc and the enzymatic activities of CuZn superoxide dismutase(CuZn SOD), glucose-6-phosphate dehydrogenase(GGPDH) and glutathione reductase (GSH-RD). The serum zinc level was sig nificantly lower in the zinc-deficient group compared to the zinc-supplemented group after 8 weeks of consuming the diet(P<0.01). CuZn SOD activity was not different between the two groups after 4 weeks. The Zn deficient group showed the significantly decreased activity of G6PDH after 4 and 8 weeks of consuming the diet(P<0.01). The activity of GSH-RD was increased in the zinc-deficient group compared to the supplemented group after 4 weeks of consuming the diet(P<0.01), but after 8 weeks the activity was not different between the two groups. From the results obtained, it could be concluded that GSH-RD may contribute to the oxygen free radical defense system in zinc deficiency in the earlier weeks of consum ing the zinc-deficient diet.
Animals ; Diet ; Glucose-6-Phosphate ; Glucosephosphate Dehydrogenase ; Glutathione Reductase ; Oxygen ; Rats* ; Skin* ; Superoxides ; Zinc*

We present herein a case of generalized pustular psoriasis in a 17-month-old female infant, who showed good response to etretinate therapy. The baby showed generalized pustular eruptions with high fever and marked leukocytosis preceded by annular scaly erythematous and annular pustular lesions. Etretinate was given in a dose of 10mg(0.75mg/kg/day) for 10 days, and then tapered to 7mg, 5mg, and 4mg in every 10 to 13 days. Clinical improvement was noted after 7 days' treatment and almost all of the skin lesions including erythroderma were cleared after 6 weeks' treatment. She is now maintained with 3mg of etretinate without recurrence.
Acitretin* ; Dermatitis, Exfoliative ; Etretinate* ; Female ; Fever ; Humans ; Infant* ; Leukocytosis ; Psoriasis* ; Recurrence ; Skin

No abstract available.
Hepatitis* ; Measles*

To investigate the mechanism of monocrotaline-induced pulmonary arterial hypertension, authors performed immunohistochemical study using antibody to von Willebrand factor(vWF), cell kinetic study using 5-bromodeoxyuridine and ultrastructural study after single subcutaneous injection of monocrotaline(MCT) to Wistar rats. The results of this study demonstrated that the expression of vWF by pulmonary endothelial cells was markedly increased from day 3 until 2 months after MCT injection. The labeling index of pulmonary microvessel endothelium began to increase after six days and was maximal on the third weeks, and thereafter it remained slightly increased above basal level. Electron microscopic study revealed attachment of inflammatory cells an platelets to endothelium from 6 hours and degranulation of attached platelets 24 hours after MCT injection. Evidences of endothelial injury began to appear from 12 hours after MCT injection. Evidences of endothelial injury began to appear from 12 hours and was maximal after 48 hours. From the third day, ultrastructural change of cell regeneration and hypertrophy began to appear and was continuosly observed until 2 months. In addition, we evaluated the changes in the number of pulmonary neuroendocrine cells using antibody to gastrin releasing peptide but it demonstrated no change until 2 months suggesting no role of neuroendocrine cells in the development of pulmonary hypertension of Wistar rats at early stage. In conclusion, the results indicate that pulmonary hypertension by MCT injection is due to increased vascular resistance caused by vasoconstriction and hyperplasia of endothelium with musculariz ation of the pulmonary arterioles induced by endothelial dysfunction and some biologic substances released form endothelium and platelets.
Rats ; Animals

We report a case of type V hyperlipoproteinemia and xanthoma eruptivum associated with diabetes mellitus in a 12-year-old female. She had diffuse erythematous yellowish papules on the extremities and trunk with itching. The laboratory findings showed increased serum blood glucose, cholesterol and triglyceride, increasing pre- and chylomicron bands on electrophoresis of lipoprotein. The biopsy specimen of an erythematous yellowish colored papule on the trunk showed characteristic findings of xanthoma.
Biopsy ; Blood Glucose ; Child ; Cholesterol ; Diabetes Mellitus* ; Electrophoresis ; Extremities ; Female ; Humans ; Hyperlipoproteinemia Type V* ; Lipoproteins ; Pruritus ; Triglycerides ; Xanthomatosis*

Neuroacanthocytosis is a rare dosorder characterized by various neurological manifestations and the presence of abnormal red blood cells called acanthocytes which have a disturbed morphology showing spiky, knobby end projections. Acanthocytosis associated with neurological involvements includes 3 major syndromes ; Bassen-Korzweig syndrome, choreoacanthocytosis (or Levine-Critchley syndrome), and Mcleod syndrome. Here, we report two cases of familial choreoacanthocytosis. A 40 years old man presented with orofacial dyskinesia, involuntary vocalization, dysarthria, dysphagia, generalized choreic movements, hyporef lexia, and amyotrophy of the bilarteral anterior tibilais muscles. Serum creatine phosphokinase was increased. Scanning electronmicroscopic examination of the fresh peripheral blood smear film showed acanthocytes, corresponding to about 6% of all red blood cells. His one of two daughter had high arched foot, bradykinesia, and hypoactive deep tendon reflexes. A 70 years old woman showed head and hand tremor, bilateral eye brow choreic movements, torticollis and bradykinesia. Her mother and two younger sisters had head termor. Serum creatine phosphokinase level was normal. Scanning electronmicroscopic examination of the fresh peripheral blood smear showed acnthocytes, corresponding to 9% of the examined red blood cells.
Abetalipoproteinemia ; Acanthocytes ; Adult ; Aged ; Chorea ; Creatine Kinase ; Deglutition Disorders ; Dysarthria ; Erythrocytes ; Female ; Foot ; Hand ; Head ; Humans ; Hypokinesia ; Mothers ; Movement Disorders ; Muscles ; Neuroacanthocytosis* ; Neurologic Manifestations ; Nuclear Family ; Reflex, Stretch ; Siblings ; Torticollis ; Tremor

We have experienced 3 cases of Cornelia de Lange syndrome in Korean female infants. They showed typical clinical features of a microbrachycephaly, hirsutism and characteristic face with low forehead bushy eye brows, antimongolian slant, large and depressed briedge of nose, thin protruding lips with down turning of the corners and micrognathia. They also had skeletal abnormalities and chromosomal abnormalities. The diagnosis was established by clinical, laboratory and X-ray findings. The brief review of literature was made.
Chromosome Aberrations ; De Lange Syndrome* ; Diagnosis ; Female ; Forehead ; Hirsutism ; Humans ; Infant ; Lip ; Nose