A Case of Prader-Willi Syndrome with Diabetes Mellitus

Prader-Willi syndrome is characterized by infantile hypotonia, mental retardation, hyperhagia, hypogonadism and obesity. Approximately 60% of all PLW syndrome show an interstitial deletion of chromosome 15, 37% have apparently normal chromosome, and 3.6% have a variety of other abnormalities involving chromosome 15. Diabetes mellitus has been considered a component of PLW syndrome and the incidence is about 7%. We experienced a 17-year-old female who revealed mental retardation, hypogonadism, obesity, and non-insulin dependent type DM, compatible with Prader-Willi syndrome.

A Clinical Study on Urinary Tract Infection in Infants and Children

This is a report of clinical study on the 63 patients of symptomatic urinary tract infection who were hospitalized at the Department of Pediatrics in Kangnam General Hospital during the period between the May of 1989 and the September of 1992. The observation results were as follows: 1) The frequency of urinary tract infection (UTI) was the highest in children under the age of one year (66.7%). 35 patients were male, while the other 28 were female. The ratio of male and female patients was 1.25:1. 2) Fever was observed in most of the cases. Systemic nonspecific manifestation was predominant in the infancy and early childhood, whereas local symptom of UTI was predominant in the late childhood. Among the 35 male patients, 32 cases were phimoses. As for the other 3 cases, Phimoses were not identified. 3) E. coli had the most frequency (65.3%), followed by Klebsiella, Enterobacter, Pseudomonas in descending order. 4) In the vitro antimicrobial susceptibility test, Gram negative organisms such as E. coli Klebsiella, Enterobacter were sensitive to cefotaxime, amikacin, and ampicillin/sulbactam. Meanwhile, Gram positive organisms such as Staphylococcus, Enterococcus were sensitive to vancomycin and cephradine. 5) The renal ultrasonography test was performed for 59 patients, 13 cases of whom showed abnormal findings. 6 cases out of the 13 abnormal patients had hydronephrosis. 6) DMSA renal scan was performed for 40 patients within 2 months of an acute pyelonephritic attack. Signs of pyelonephritic change were found in 18 patients. DMSA scan was repeated 4~12 months later in 4 of these patients. This showed renal cortical scarring in all patients. 7) Voiding cystourethrographic findings in 38 patients showed vesicoureteral reflux in 13 patients. 8) We performed urine culture again after 48 hours from the beginning of therapy and 85.5% of the cases became sterile. 9) The recurrent percentage of UTI was 23.8% with the ratio of 1:1.5 between male and female. Most of the patients were clildren under the age of one year. 10) Operations were made on two cases showing the increase of reflux during the follow-up of unilateral Grade ll and Grade 3 reflux, respectively. Operations were also performed on other two cases with bilateral Grade IV reflux. All the cases were good after the operations. In the meantime, as for another two cases having the right reflux of Grade lland the bilateral reflux of Grade lll, the refluxes were able to be reduced by prophylaxis only, in the course of following up.

A case of congenital central hypoventilation syndrome(ondine's curse) with hirschsprung's disease / 소아알레르기및호흡기학회지

No abstract available.

Leigh's disease involving multiple organs

Leigh's disease is a rare progressive neurological disorder that is characterized light microscopically by focal spongy necrosis in the brain and electron microscopically by mitochondriopathy. We report an autopsy case of Leigh's disease that showed abnormalities in the liver, kidney and skeletal muscle as well as the central nervous system. The patient was an 18-month-old girl who has carried a diagnosis of cerebral palsy ever since her birth to a 20-year-old mother. The baby was generally hypertonic and mentally retarded. She died of severe metabolic acidosis. Postmortem examination showed growth retardation, fatty liver, fatty kidney and soft brain. Brain section showed multifocal softenings in the brainstem, basal ganglia and periventricular areas. Microscopically increased capillaries with endothelial proliferation, vacuolar degeneration and mild gliosis were seen in the brain. The axons were relatively preserved. Liver and kidneys showed microvesicular fatty change. Myofiber degeneration of the skeletal muscle was also noted. Electron microscopic examination showed markedly increased mitochondria in the parenchymal cells of the brain, liver and kidney. The mitochondria showed round to ovoid ballooned appearance including electron-dense core-like structures and pseudoinclusions of glycogen granules.