Isovaleric acidemia is an inborn error in metabolism due to a defect in isovaleryl-CoA dehydrogenase. Accumulation of serum isovaleric acid causes poor feeding, vomiting, lethargy, hypothermia, convulsion, mental retardation, etc. It is inherited as an autosomal recessive trait. Since the first reports of isovaleric acidemia by Tanaka et al in 1966, more than 60 cases have been reported. There are two clinically different presentations of isovaleric acidemia, with about half the patients presenting with an acute severe neonatal form and about half with a chronic intermittent forrn. The difference in clinical presentation may not be a consequence of differing severities of the causative mutation, but a result of the timing of application of catabolic stress or the ability to form isovalerylglycine. We described here clinical and organic acid analytical findings of brothers with chronic intermittent form of isovaleric acidemia. (J Korean Pediatr Soc 2000;43:828-831)
Humans ; Hypothermia ; Intellectual Disability ; Isovaleryl-CoA Dehydrogenase ; Lethargy ; Metabolism ; Seizures ; Siblings* ; Vomiting

Bleoxycin is known to have good therapeutic effect on verrucae, which has been used for varioua malignant turnors for its antimitatic effect RecentIy Kim & Kim, reported an exceIIent treatment method. of verrucae with Bleomycin using needle free. They poetulated that the excellent effcts were achievei thraugh infiltration of the ekin, in.cluding the affected epidermis, with Bleomycin which is not possible with other rnethods, It is therefore interesting to know the effects of Dermajet instilled Bleomycin an normal ekin. We selected guinea pigs for thia experirnent. Five albino guixim pigs, weighting about 500 Gm, were ueed. Bleomycin water ohxtion, 0.25mg/ml, 0.06ml for each chet was injected utilizing Dermojet on the back of a guinea pig after clipping. The injected sites and the contralateral sites were tiopsied a,fter vaxying length of time and histologia examinationa were made. The experiment was eoarranged that the biopsies for different experiment aitea celd be done on oxeittirnig. Fix hours after the bleomycin injection, the epidermis becase shrunk and t@4e upper dermie showed aligbt inflammatory infiltration. After 10 hours. and also after 24 houra, a auperficial ulceration and necrosis were noted and the dermal infiltration became progressively severer. After 2 days epithelization, had started and. the necrotic debris began to drop off. After 4 daya the epithelization was camplete. These findings were in sorne part similar to the findings observed in humans by Kirn and Kim in the treatment af verruca but th time sequenc was far faster in guinea pigs.
Animals ; Biopsy ; Bleomycin* ; Epidermis ; Guinea Pigs* ; Guinea* ; Humans ; Necrosis ; Needles ; Skin* ; Swine ; Ulcer ; Warts ; Water

No abstract available.
Meconium* ; Peritonitis*

No abstract available.
Humans

Gliomas of the optic nerve are relatively uncommon. We have experienced one case of glioma of the optic nerve recently. The patient was 17 year old boy who had exophthalmos and visual disturbance in his left eye for three years. The vision was CF/30cm. in his left eye and the optic nerve head was extremely atrophic. The eyeball was displaced infero-temporally. The exophthalmic value was 14mm. in right and 18mm. in left eye. On July 31, 1986, the left eyeball was exposed through Kroenlein method and the tumor mass was excised totally but the eyeball remained intact. The gross appearance of the tumor was large fusiform shape(3.5 X 2.0 X 1.8cm.) with well encapsulated grayish-white surface. The cut-section of the tumor revealed grayish-white solid area and hemorrhagic cystic area. The histopathologic slides showed that the tumor was composed of multiple pilocytic astrocytic cells in the solid area and in microcystic area. The cytoplasm of the tumor cells were bipolar spindle shape and the nucleus was uniform in general and there was no sign of mitotic figure. Numerous dense and amorphous eosinophilic materials so called "Rosenthal fibers" were also seen in the microcystic areas. Finally we have diagnosed this tumor as the Optic nerve glioma.
Adolescent ; Cytoplasm ; Eosinophils ; Exophthalmos ; Glioma ; Humans ; Male ; Optic Disk ; Optic Nerve Glioma* ; Optic Nerve*

The association of colonic atresia in patients with Down syndrome is a rare anomaly. The incidence of congenital atresia of the gastrointestinal tract has been estimated to be about one in 1500 births. Colonic atresia is rarer still, and is throut to comprise about 5% to 10% of this group. This intestinal atresia occurs in about 30% to 50% of patient with Down syndrome. We experienced a case of Down syndrome associated with colonic atresia in a 1 day old male. His initial chief complaints at the admission were severe abdominal distension and Down appearance. Diagnosis was confirmed by chromosomal study and operative laparotomy with end-to-end ileodescending colostomy. We report the case with brief review of related literatures.
Colon* ; Colostomy ; Diagnosis ; Down Syndrome* ; Gastrointestinal Tract ; Humans ; Incidence ; Intestinal Atresia ; Laparotomy ; Male ; Parturition

The authors evaluated the 56 patients who received the diagnosis of myopia at the department of ophthalmology in Koryo General Hospital in Seoul from May 1975 to August 1985. In this study, we reviewed the statistics of the progression of myopia with age and with the number of visits to the hospital and also the differences between male and female and left eye and right eye. The results are as follows: 1. Myopia progresses with increase of age. 2. The mean diopter of myopia over 21 years is not so remarkable compared with below 20 years. But it is not absolutely true because the number of patients are so small. 3. On the average, males are slightly higher in the degree of myopia than female, but this seems to have no statistical meaning. 4. In terms of the degree of myopia, it is higher after the age of 12 than before 12.
Diagnosis ; Female ; Hospitals, General ; Humans ; Male ; Myopia* ; Ophthalmology ; Seoul

No abstract available.
Aspergillosis* ; Mastoid*

We present a case of angiographically-confirmed transverse and sigmoid sinus thrombosis, image with MR, in a 20 year old male with a history of otitis media and maxillary sinusitis. T1-weighted image demonstrated an isosignal intensity mass with tubular-shaped low signal intensity in right transverse and sigmoid sinus. The thrombus had high signal intensity on T2-weighted image. The signal intensity of the thrombus on Gd-DTPA enhanced T1-weighted image was unusually high similar to that of transverse sinus. Although dural sinus thrombosis has a non-specific MR signal intensity, findings of MRI in this case may serve as an aid in future evaluation of venous thrombosis.
Colon, Sigmoid ; Gadolinium DTPA ; Humans ; Magnetic Resonance Imaging* ; Male ; Maxillary Sinus ; Maxillary Sinusitis ; Otitis Media ; Sinus Thrombosis, Intracranial* ; Thrombosis ; Venous Thrombosis

No abstract available.
Gastrointestinal Hemorrhage*