Neurofibromatosis Type I Presenting with Incomplete Ileal Volvulus in a Pediatric Patient.

BACKGROUND Neurofibromatosis 1 is a neurocutaneous disorder with multisystemic manifestations. When patients are lacking overt cutaneous manifestations, diagnosis may be delayed and may complicate diagnosis and management of atypical presentations of this disease. It is thus important to strive to obtain relevant and/or complete history to arrive at the appropriate diagnosis.

Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika Infection in the Human Placenta.

Zika virus (ZIKV) compromises placental integrity, infecting the fetus. However, the mechanisms associated with ZIKV penetration into the placenta leading to fetal infection are unknown. Cystatin B (CSTB), the receptor for advanced glycation end products (RAGE), and tyrosine-protein kinase receptor UFO (AXL) have been implicated in ZIKV infection and inflammation.

Zika virus infection of the placenta alters extracellular matrix proteome.

Zika virus (ZIKV) infection has been associated with fetal abnormalities by compromising placental integrity, but the mechanisms by which this occurs are unknown. Flavivirus can deregulate the host proteome, especially extracellular matrix (ECM) proteins. We hypothesize that a deregulation of specific ECM proteins by ZIKV, affects placental integrity.

Duodenal duplication with accessory papilla causing recurrent pancreatitis in a child: a case report.

We discuss a 16-year-old male patient who presented with three episodes of recurrent pancreatitis within the last 6 months. Preoperative imaging studies suggested a choledochal cyst within the second portion of the duodenum. Patient was taken to surgery and the lesion was removed.

Infection-associated hemophagocytic syndrome: a rare potentially fatal complication of systemic infection. Report of three cases.

Infection-associated hemophagocytic syndrome is a rare, potentially fatal complication of systemic infection. It occurs most often in immunocompromised patients associated with a viral infection but the spectrum of conditions have been broadened to include virtually every type of infectious pathogen, malignancy and immunosuppressive therapy. We present three pediatric patients with a similar clinical history of pancytopenia, hepatosplenomegaly, and acute liver failure, and discuss the autopsy findings.

Renohepaticopancreatic dysplasia: diagnostic dilemma.

We present the case of an eighteen day old baby boy hospitalized with an abdominal mass, renal insufficiency and jaundice. Multiple radiographic, radionuclear and surgical interventions were required to diagnose renohepaticopancreatic dysplasia, also known as Ivemark II syndrome. In spite of aggressive intensive care support, the patient developed multisystemic organ failure and died.

Late presentation of congenital cystic adenomatoid malformation.

We present the case of a 9 year old girl with history of progressive pneumatoceles and infection since she was 3 years old. A chest computerized tomography revealed a cystic lung mass. The patient was taken to surgery and a left lower lobe lobectomy was performed.

Pentalogy of Cantrell: a case report with pathologic findings.

We present the case of a 28-h-old female infant born at 37 weeks of gestation with a rare congenital malformation consisting of a pentad of findings: ectopia cordis, a midline supraumbilical wall defect, a defect of the lower sternum, absent pericardium, and an anterior diaphragmatic defect. This constellation of defects is known as the pentalogy of Cantrell. Additional autopsy findings included a bilateral cleft lip and palate, bilateral pulmonary hypoplasia, an atrial septal defect, and a patent ductus arteriosus.

Pulmonary hypoplasia in Jarcho-Levin syndrome.

Jarcho-Levin syndrome, also known as spondylothoracic dysplasia and characterized by short trunk dwarfism, "crab-like" rib cage, with ribs and vertebral defects; it is not uncommon in Puerto Ricans. Many patients die in early infancy due to respiratory compromise associated to lung restriction and the reported cases emphasize mostly the skeletal malformations associated to the syndrome. We report the autopsy findings in a newborn with isolated Jarcho-Levin syndrome emphasizing pulmonary pathology.

Rhabdoid tumor: an unusual pediatric brain tumor.

Rhabdoid tumors of the brain are rare with an invariable dismal prognosis despite treatment. This is the case of a 3 year old boy who presented lethargy, somnolence, nausea, vomiting, and headaches one week prior to hospitalization. A posterior fossa tumor with hydrocephalus was noted on a head computed tomography (CT) scan.

Cavernous hemangioma presenting as a right adnexal mass in a child.

This is the case of an 11-year-old girl who presented with a right adnexal mass and vague abdominal symptoms since seven months prior to her hospital admission for surgery. CT-scan and sonographic images were those of a benign lesion, probably ovarian torsion or infarction. Serum tumoral markers were normal.

Cerebral hemiatrophy: an associated finding in an epileptic child.

Cerebral hemiatrophy is a rarely occurring condition of different etiologies that can be regarded as the final stage of a number of different disease processes. It is characterized by a marked asymmetry of the cerebral hemispheres. A 12 year old girl with history of epilepsy since infancy and psychomotor delay presented in status epilepticus, developed marked cerebral edema, bilateral uncal herniation and bilateral infarcts of the posterior cerebral artery territories.

Pulmonary sequestration presenting as fetal hydrops.

Pulmonary sequestration is a rare developmental anomaly of the lung characterized by nonfunctional pulmonary tissue without communication with the tracheobronchial tree and receiving an aberrant systemic arterial blood supply. Few cases of non-immune hydrops fetalis associated with this entity have been reported. A 2 day old male baby born by cesarean section at 31 weeks gestational age due to fetal hydrops is presented.

Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.

Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels.

Desmoplastic astrocytoma of infancy: a case report with histopathologic and immunohistochemistry profile.

The clinicopathological features and immunohistochemistry profile of desmoplastic cerebral astrocytoma of infancy are discussed in a 4 month old male infant who presented with an increasing head circumference more pronounced in the last two weeks prior to admission to the University Pediatric Hospital. This is a rare tumor that occurs in infants within the first two years of life and it is characterized by a massive, often cystic, supratentorial lesion usually in the frontoparietal region. It has a biphasic histologic pattern with an astrocytic and desmoplastic component and a good prognosis after total or near total surgical resection.