[Smith-Magenis syndrome: case report and review].

Smith-Magenis syndrome (SMS) is characterized by distinctive facial features that progress with age, developmental delay, cognitive impairment, and behavioral abnormalities associated with molecular anomaly in 17p11.2. Treatment includes: early childhood intervention programs, special education, vocational training later in life, and speech/language, physical, and occupational, behavioral, and sensory integration therapies.

Luteinized cystic ovarian hyperplasia associated with placentomegaly due to chorangiomatosis.

Luteinized cystic ovarian hyperplasia (LCOH) is a rare benign condition characterized by bilateral ovarian enlargement during pregnancy secondary to high maternal human chorionic gonadotropin serum levels referred to occur under several conditions. We report the case of a 29-year-old obese woman with LCOH incidentally discovered during cesarean section of a single pregnancy at 35 weeks of gestation for fetal intrauterine demise. The fetus showed external ambiguous genitalia, imperforate anus, bilateral dysplastic kidneys, and hydrometrocolpos secondary to atresia of the vagina.

Rectal primitive neuroectodermal tumor.

We report the clinical, histologic, immunohistochemical, and molecular findings of a Ewing's sarcoma/primitive neuroectodermal tumor (ES/PNET) localized to the rectum in a 17-year-old boy. Notably the 4.5 x 4 x 4-cm sessile mass was spontaneously eliminated through the anus, producing an episode of hemorrhagic shock.

Pancreatic cystic dysplasia (dysgenesis) presenting as a surgical pathology specimen in a patient with multiple malformations and familial ear pits.

A peculiar 6 x 5 x 3 cm, multilobed, septated, cystic tumor presented in the tail of the pancreas in a 5-month-old infant with left ear pit, bilateral cleft palate, brachydactyly type B, and familial ear pits. This combination was not found previously reported. The cysts were lined by attenuated epithelium and PAS-positive, mucus-containing cells.

[Chronic active plasmacytic gastritis associated with cytomegalovirus].

Chronic active plasmacytic gastritis (CAPG) is characterized by the presence of chronic inflammatory cell infiltrates, mainly formed by plasma cells, involving the neck of gastric glands. This lesion, as well as Ménétrier disease, has been linked to cytomegalovirus (CMV). To test this association we evaluated the foveolar/glandular (F/G) index and the presence of CMV DNA (desoxirribonucleic acid) by means of polymerase chain reaction (PCR) in 12 cases of CAPG and 13 controls.