Choroid Plexus Carcinoma in Adults: Two Case Reports

Choroid plexus tumors are uncommon brain tumors that primarily occur in children. Most of these tumors originate from the intraventricular area, and the most common clinicalpresentation is increased intracranial pressure. Dissemination through the cerebrospinal fluid space is the inevitable natural course of the disease. Here, we present 2 rare cases of adult choroid plexus carcinoma (CPC), each with distinct clinical presentation and progression. The first case was a 40-year-old male who presented with multiple intraventricular masses. After surgical biopsy, radiation and intrathecal chemotherapy failed to elicit any response. The patient progressed with spinal cord dissemination and expired 1 year later. The second case presented with visual disturbance, and brain MRI revealed a large ovoid juxtaventricular mass with peritumoral edema. This 49-year-old female patient underwent craniotomy for what was thought to be a high-grade glioma; however, the mass was connected to the choroid plexus at the operative field. Her pathology specimen was diagnosed as CPC, and adjuvant systemic chemotherapy was administered. She has now been free of recurrence for 10 months. The description of the presentation and progression of these rare adult-onset CPC provides insight for the diagnosis and treatment of other rare instances of choroid plexus tumors.

Role of p16 in the pathogenesis of Langerhans cell histiocytosis

BACKGROUND: It has been hypothesized that genetic alteration at the cellular level may have a significant effect on cellular mechanisms controlling the proliferation and apoptosis of Langerhans cells (LCs). METHODS: We examined whether p16 protein expression can be used to predict the outcome of Langerhans cell histiocytosis (LCH). Archival paraffin blocks from children diagnosed with LCH and followed at the Asan Medical Center and Chungnam National University Hospital between March 1998 and February 2008 were studied. RESULTS: Slides were stained with p16 antibody and evaluated semi-quantitatively using the following scale: negative, no staining; +/-, weakly positive; 1+, staining similar to lymphocytes surrounding the LCs; 2+, stronger staining than lymphocytes; 3+, much stronger staining than lymphocytes. Negative and +/- groups were assigned to a lower expression group (LEG) and the 1+, 2+, and 3+ groups were assigned to a higher expression group (HEG). The median age of the 51 patients (24 girls, 27 boys) was 49 (range, 0.6-178) months, and LCH was diagnosed based on CD1a positivity. p16 protein was expressed to varying degrees in all but one specimen. There was a greater tendency toward multisystem disease, risk organ involvement, and relapse in the HEG than in the LEG. CONCLUSION: The p16 protein may have a significant effect on cellular mechanisms controlling the proliferation and apoptosis of LCs, and thus may influence the clinical outcome and prognosis of LCH.

Outcomes of Extremely Low Birth Weight Infants at the Asan Medical Center between 2003 and 2006

PURPOSE: The purpose of this study was to determine the outcomes of extremely low birth weight infants (ELBWI) who were born at the Asan Medical Center and evaluate the recent status of neonatal intensive care and associated problems. METHODS: We retrospectively evaluated 120 inborn ELBWI who were admitted to the NICU of the Asan Medical Center between 2003 and 2006. The survival rate, neurodevelopmental outcomes, maternal and infant factors, and infant mordibities were evaluated and the relationships with survival and catch-up growth were investigated. RESULTS: The survival rate of the ELBWI was 82% at a mean gestational age of 27+2 weeks, and with a mean birth weight of 801.3+/-129.0 g. The duration of hospitalization was 85.7+/-27.2 days, the duration of O2 use was 43.9+/-35.4 days, and the duration of ventilatory support was 20.9+/-20.9 days among the survivors. The incidence of respiratory distress syndrome, chronic lung disease, severe intraventricular hemorrhage, and periventricular leukomalacia were 41.8%, 61.2%, 3%, and 4%, respectively. The mean mental developmental index and psychomotor development index of Bailey Scales of Infant Development (II) at follow-up were 83.4+/-18.2 and 83.3+/-20.3, respectively. Among the infants who had >18 months of follow-up, 50.8% had catch-up growth at 12 months. CONCLUSION: The survival rate of ELBWI has improved; however, the morbidities remain high, thus indicating further efforts must be implemented to reduce morbidity and improve neurodevelopmental outcomes.

A case of Smith-Lemli-Opitz syndrome diagnosed by identification of mutations in the 7-dehydrocholesterol reductase (DHCR7) gene / 소아과

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.