Project description:Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.

| S-EPMC3529426 | biostudies-literature

Teaching Video NeuroImages: dancing epilepsy.

Project description: Not available

| S-EPMC2690972 | biostudies-literature

Teaching video neuroimages: Hollenhorst plaque.

Project description: Not available

| S-EPMC3908457 | biostudies-literature

Teaching Video NeuroImages: Foville syndrome.

Project description: Not available

| S-EPMC4862249 | biostudies-literature

Teaching NeuroImages: sacral spine chloroma.

Project description:A 23-year-old man with recurrent acute myeloid leukemia (AML) underwent successful reinduction and was judged posttherapy to be in complete remission. Soon thereafter, he complained of pain in his left buttock radiating into his left posterior thigh. Neurologic examination was unremarkable. Radiographic evaluation demonstrated a left S2 lesion suggestive of a nerve sheath tumor (figure 1). An open biopsy was performed that revealed a chloroma pathologically (figure 2), sometimes referred to as a myeloid sarcoma.(1,2) Most chloromas are found in patients with recurrent AML and are overwhelmingly intracranial.(1) Infrequently, chloromas are paraspinal, and in this location present with epidural spinal cord compression.(2) Intraspinal invasion by a chloroma is rare. Systemic evaluation confirmed recurrent AML, for which he was successfully treated with reinduction and whole-body irradiation followed by an allogeneic transplant. He is currently disease-free and neurologically asymptomatic 1 year posttransplant.

| S-EPMC3888196 | biostudies-literature

Teaching neuroimages: vein of Galen aneurysm mimicking pineal mass in a young adult.

Project description:A 22-year-old man presented with intractable progressive headaches over 2 months. Noncontrast head CT and contrast-enhanced MRI scan revealed a hyperdense pineal-based mass (figure, A and B). Arteriogram was normal (figure, C and D).

| S-EPMC3716409 | biostudies-literature

Adult residual rectourethral fistula and diverticulum presenting decades after imperforate anus repair: a case report.

Project description:BackgroundThis report describes a rare surgical case of an intraabdominal mass in a middle-aged patient 40 years after imperforate anus repair.Case presentationA 44-year-old Latino male with history of repaired anorectal malformation presented with recurrent urinary tract infections and rectal prolapse with bothersome bleeding and fecal incontinence. During his preoperative evaluation, he was initially diagnosed with a prostatic utricle cyst on the basis of magnetic resonance imaging findings, which demonstrated a cystic, thick-walled mass with low signal contents that extended inferiorly to insert into the distal prostatic urethra. However, at the time of surgical resection, the thick-walled structure contained an old, firm fecaloma. The final pathology report described findings consistent with colonic tissue, suggesting a retained remnant of the original fistula and diverticulum.ConclusionsAlthough rare, persistent rectourethral fistula tracts and rectal diverticula after imperforate anus repair can cause symptoms decades later, requiring surgical intervention. This is an important diagnostic consideration for any adult patient with history of imperforate anus.

| S-EPMC8281626 | biostudies-literature

Teaching NeuroImages: Dynamic vertebral artery insufficiency.

Project description: Not available

| S-EPMC5109940 | biostudies-literature

Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Project description: Not available

| S-EPMC4909551 | biostudies-literature