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.
Dandy-Walker Syndrome*

No abstract available.
Cerebral Hemorrhage* ; Mucormycosis*

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.
Cystadenocarcinoma, Mucinous* ; Mucins*

We present a case of Brown-Sequard syndrome due to a massive cervical disc herniation at C5/6 level, presenting sings of sudden and severe spinal cord compression. The lesion was diagnosed by MRI and herniated cervical disc was removed under the surgical microscope via anterior route. The result of operation was good. A brief review of the literature is given.
Brown-Sequard Syndrome* ; Magnetic Resonance Imaging ; Spinal Cord Compression

PURPOSE: Primary treatment of children with vesicoureteral reflux (VUR) is antibiotic prophylaxis until the reflux resolves. But, it is not easy to determine in which patients the reflux resolves. We sought to determine whether renal scarring could help to predict the prognosis of reflux regarding reflux resolution and breakthrough infection. MATERIALS AND METHODS: A total of 90 children, 54 boys and 36 girls, mean age 15.1 (range: 1-98) months, with VUR were analyzed retrospectively. Eighty-six presented with febrile urinary tract infection (UTI) and 4 with prenatal hydronephrosis. Technetium Tc 99m dimercaptosuccinic acid (DMSA) scans were performed at 4 months after resolution of a febrile UTI. All children were initially treated with antibiotic prophylaxis (Bactrim(R); TMX-SMX 2 mg/kg/day) and 40 underwent antireflux surgery. Median follow-up was 26.1 (range: 6-52) months. Reflux grade was defined by use of the International Classification System. We analyzed the incidence of renal scarring according to reflux grade, reflux resolution, and reason for antireflux surgery. RESULTS: Normal DMSA scans were documented in 63 (70%) children and renal scarring in 27 (30%). Children with renal scarring presented high grade (III-V) VUR. VUR with renal scarring was not resolved spontaneously and increased the risk for breakthrough UTI. Renal scarring could help to predict the prognosis of reflux regarding reflux resolution and breakthrough infection. VUR grade, however, did not help to predict the prognosis of reflux. CONCLUSIONS: We conclude that VUR with renal scarring has a low spontaneous resolution rate and a high risk for breakthrough UTI. This information would be helpful when counseling the families of patients with VUR.
Antibiotic Prophylaxis ; Child ; Cicatrix ; Counseling ; Follow-Up Studies ; Humans ; Hydronephrosis ; Incidence ; Prognosis ; Retrospective Studies ; Succimer ; Technetium Tc 99m Dimercaptosuccinic Acid ; Urinary Tract Infections ; Vesico-Ureteral Reflux

No abstract available.
Humans* ; Placenta* ; Pregnancy*

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