Patau syndrome, or Trisomy 13 is one of the most common autosomal aberration associtated with multiple congenital abnormalities. We report a case with trisomy 13 mosacism which was found during an amniocentesis performed due to the age of the mother and abnormal nuchal translucency. The clinical features of fetus included cleft lip and palate, low set ears, polydactily, small ""micro"" penis, and Rocker-bottom feet. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and pulmonary hypoplasia, microophthalmia, hypoplasia of left ventricle of heart were found.
Amniocentesis ; Autopsy ; Cleft Lip ; Congenital Abnormalities ; Ear ; Fetus ; Foot ; Heart ; Heart Ventricles ; Humans ; Male ; Mothers ; Nuchal Translucency Measurement ; Palate ; Penis ; Pregnancy* ; Trisomy

No abstract available.
Cerebral Hemorrhage* ; Mucormycosis*

No abstract available.
Dandy-Walker Syndrome*

Fibromatosis can occur at various sites, but intracranial fibromatosis is exceptionally rare. Here, we report a case of intracranial fibromatosis arising in the suprasellar area of a 52-year-old woman who had undergone a surgery at that site. A computed tomography scan revealed a heavily calcified, highly enhancing, poorly demarcated mass in the left sellar area that extended into the left suprasellar, parasellar areas, and orbital apex and completely encased the left distal inferior cerebral artery. Histologic and immunohistochemical features were compatible with those of fibromatosis, although the cellularity was focally higher than usual. The etiology of extra-abdominal fibromatosis is unknown, but physical injuries such as trauma and irradiation have been reported to be associated with its occurrence. Although fibromatosis is rare in the intracranial area, it should be considered as a differential diagnosis when an intracranial mass occurs at a previously injured site.
Central Nervous System ; Cerebral Arteries ; Diagnosis, Differential ; Female ; Fibroma ; Fibromatosis, Aggressive ; Humans ; Middle Aged ; Orbit ; Sella Turcica

Fibromatosis can occur at various sites, but intracranial fibromatosis is exceptionally rare. Here, we report a case of intracranial fibromatosis arising in the suprasellar area of a 52-year-old woman who had undergone a surgery at that site. A computed tomography scan revealed a heavily calcified, highly enhancing, poorly demarcated mass in the left sellar area that extended into the left suprasellar, parasellar areas, and orbital apex and completely encased the left distal inferior cerebral artery. Histologic and immunohistochemical features were compatible with those of fibromatosis, although the cellularity was focally higher than usual. The etiology of extra-abdominal fibromatosis is unknown, but physical injuries such as trauma and irradiation have been reported to be associated with its occurrence. Although fibromatosis is rare in the intracranial area, it should be considered as a differential diagnosis when an intracranial mass occurs at a previously injured site.
Central Nervous System ; Cerebral Arteries ; Diagnosis, Differential ; Female ; Fibroma ; Fibromatosis, Aggressive ; Humans ; Middle Aged ; Orbit ; Sella Turcica

No abstract available.
Leiomyoma*

Ovarian cysts in the newborn are uncormnon. Fetal ovarian cysts are being diagnosed with inaeasing fiequency with development of obstetrical sonography. Most of these cysts are found within the first few months of life and have no clinical significance. But, a large ovarian cyst would be founded antenatally with sonography. A large ovarian cyst can cause life-theatening complications during parturition and in the neonatal period. We have experienced a case of fetal ovarian cyst in a 32-year-old primiparous woman with antenatal sonography and report our experience with a brief review of literatures.
Adult ; Female ; Humans ; Infant, Newborn ; Ovarian Cysts* ; Parturition ; Ultrasonography

PURPOSE: The association of age, sex and renal parenchymal damage (RPD) in vesicoureteral reflux (VUR) is well known. We compared various factors between infants and children in a cohort of patients with primary VUR. MATERIALS AND METHODS: Medical records of 147 patients diagnosed as VUR between 1997 and 2010 were reviewed. Of these children 91 (61.9%) were boys and 56 (38.1%) were girls. 99 (67.3%) of the 147 patients were younger (Group 1), and 48 (32.7%) were older than 1 year (Group 2). The impact of patient's gender and age as well as VUR grade on RPD were analyzed in each patient. The Fisher's exact test and chi square test was done with SPSS ver. 12.0 (SPSS Inc., Chicago, IL, USA). RESULTS: VUR was unilateral in 88 patients (59.9%) and bilateral in 59 patients (40.1%). Abnormal renal scan was found in 78 (37.7%) renal units. The incidence of VUR was significantly higher in male in group 1 (p<0.01) and in female in group 2 (p<0.01). The incidence of abnormal renal scan was significantly higher in intermediate and high grade VUR comparing low grade VUR in group 1 (p=0.042). In both group, abnormal renal scan didn't show any difference between male and female statistically (p>0.05). CONCLUSIONS: Our data showed that VUR in infant was significantly higher in male than in female, whereas VUR in children was significantly higher in female. This may be due to that characteristic of a population where neonatal circumcision is not a common procedure in infant and urinary tract infections are more common in female children. Further study may be needed to identify gender difference in RPD in infant with high grade reflux.
Chi-Square Distribution ; Chicago ; Child ; Circumcision, Male ; Cohort Studies ; Female ; Humans ; Incidence ; Infant ; Male ; Medical Records ; Urinary Tract Infections ; Vesico-Ureteral Reflux

No abstract available.

PURPOSE: To report the effectiveness of Minocin sclerotherapy in the treatment of renal cysts. MATERIALS AND METHODS: We performed minocin sclerotherapy to 19 patients with 21 renal cysts composed of 17 cases of solitary renal cyst and three cases of multiple renal cyst and one case of polycystic kidney comfirmed by ultrasound and CT. After aspiration of cyst fluid, if the amount was less than 50ml, 500mg of minocin was mixed with 3ml of normal saline,if more than 50ml, 1000mg of minocin mixed with 5ml of normal saline were injected, and each case was followed-up over 3 months by ultrasound. RESULTS: Of all 21 renal cysts, 14 cases were followed-up three months after minocin sclerotherapy. In 12 of 14 cases, the size of the cysts decreased by 10% or collapsed completely. Of the remaining two cases, one collapsed after 6 months while the other recurred after 6months. Three cases were followed up after 20 months and only one of them recurred. 19 of all 21 cases(91%) were cured, and two of 21 cases(9%) were recurred. Pain was the only complaint. and four of 10'cases needed analgesics. CONCLUSION: Sclerotherapy with minocin has low recurrence-rate and low complication, and relatively early high cure-rate.
Analgesics ; Cyst Fluid ; Humans ; Minocycline* ; Polycystic Kidney Diseases ; Sclerotherapy* ; Ultrasonography