Atypical presentation of currarino syndrome: A case report.

INTRODUCTION: Currarino syndrome is a rare congenital disorder characterized by a triad of anorectal malformation, a sacral bone defect, and a presacral mass. It results of an abnormal separation of the ectoderm from the endoderm caused by HLXB9 mutation in chromosome 7q36 in 50% of cases. The disorder is mostly hereditary as it can also be sporadic with a variable expression spectrum. PRESENTATION OF CASE: The case of a previously healthy 3-month-old girl with abdominal distension, post-prandial vomiting, obstipation, and anuria of 5 days' history is presented in this article. Abdomino-pelvic magnetic resonance imaging (MRI) showed a large cystic multilobulated mass in the sacrococcygeal region with a dural communication evident of an anterior sacral meningocele. 1 year later, the child came back with constipation and was found to a have a malignant mixed germ cell tumor in the presacral area, a very rare presentation in Currarino syndrome. DISCUSSION: In a child presenting with at least one of the features of Currarino syndrome's triad, a diagnosis should be suspected. After reviewing the literature, the syndrome is usually missed and hence is under diagnosed. MRI is the best imaging modality for diagnostics and follow-up for any mass, benign or malignant, can bring life saving measures. Most masses are benign but can undergo malignant transformation even after resection. De novo malignancy is very rare and is described in our case. CONCLUSION: Physicians treating patients with spinal dysraphism should suspect a diagnosis of Currarino syndrome by follow up imaging for any new benign or malignant growth.

Recurrent posterior reversible encephalopathy syndrome with cerebellar involvement leading to acute hydrocephalus.

Posterior reversible encephalopathy syndrome or PRES is a proposed cliniconeuroradiological entity that is characterized by headache, confusion, seizure, cortical visual disturbances or even blindness and, to a lesser extent, focal neurological signs. The etiology of this entity includes a sudden increase in blood pressure, renal failure, immunosuppressive drugs, infections, and intravenous immunoglobulin (IVIG). Classically, magnetic resonance imaging (MRI) findings show a symmetric reversible vasogenic edema in the parietooccipital lobes. PRES can involve the brainstem and cerebellum and sometimes can leave irreversible lesions but it can also recur, which is a very rare presentation. In this article, we report a case of recurrent PRES with cerebellar involvement associated with non-communicating hydrocephalus in a 2-year-old child with renal failure on peritoneal dialysis after receiving Etoposide for macrophage activation syndrome.

Collaborative Control of Cell Cycle Progression by the RNA Exonuclease Dis3 and Ras Is Conserved Across Species.

Dis3 encodes a conserved RNase that degrades or processes all RNA species via an N-terminal PilT N terminus (PIN) domain and C-terminal RNB domain that harbor, respectively, endonuclease activity and 3'-5' exonuclease activity. In Schizosaccharomyces pombe, dis3 mutations cause chromosome missegregation and failure in mitosis, suggesting dis3 promotes cell division. In humans, apparently hypomorphic dis3 mutations are found recurrently in multiple myeloma, suggesting dis3 opposes cell division. Except for the observation that RNAi-mediated depletion of dis3 function drives larval arrest and reduces tissue growth in Drosophila, the role of dis3 has not been rigorously explored in higher eukaryotic systems. Using the Drosophila system and newly generated dis3 null alleles, we find that absence of dis3 activity inhibits cell division. We uncover a conserved CDK1 phosphorylation site that when phosphorylated inhibits Dis3's exonuclease, but not endonuclease, activity. Leveraging this information, we show that Dis3's exonuclease function is required for mitotic cell division: in its absence, cells are delayed in mitosis and exhibit aneuploidy and overcondensed chromosomes. In contrast, we find that modest reduction of dis3 function enhances cell proliferation in the presence of elevated Ras activity, apparently by accelerating cells through G2/M even though each insult by itself delays G2/M. Additionally, we find that dis3 and ras genetically interact in worms and that dis3 can enhance cell proliferation under growth stimulatory conditions in murine B cells. Thus, reduction, but not absence, of dis3 activity can enhance cell proliferation in higher organisms.

DAF-2 and ERK couple nutrient availability to meiotic progression during Caenorhabditis elegans oogenesis.

Coupling the production of mature gametes and fertilized zygotes to favorable nutritional conditions improves reproductive success. In invertebrates, the proliferation of female germline stem cells is regulated by nutritional status. However, in mammals, the number of female germline stem cells is set early in development, with oocytes progressing through meiosis later in life. Mechanisms that couple later steps of oogenesis to environmental conditions remain largely undefined. We show that, in the presence of food, the DAF-2 insulin-like receptor signals through the RAS-ERK pathway to drive meiotic prophase I progression and oogenesis; in the absence of food, the resultant inactivation of insulin-like signaling leads to downregulation of the RAS-ERK pathway, and oogenesis is stalled. Thus, the insulin-like signaling pathway couples nutrient sensing to meiotic I progression and oocyte production in C. elegans, ensuring that oocytes are only produced under conditions favorable for the survival of the resulting zygotes.