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. Furthermore, maintaining an index of suspicion in cases of vague abdominal pain may guide the clinician in establishing the correct diagnosis of mesenteric plexiform neurofibroma in the setting of known/presumed neurofibromatosis 1 patients presenting with acute and/or chronic vague abdominal symptoms. CASE REPORT This is a case of a teenage boy who presented with acute, vague abdominal pain over a period of 2 weeks. Laboratory tests and physical exam findings in primary and secondary care settings were unremarkable, and thus the patient was discharged home only to continue with abdominal pain, thus seeking additional medical care. After admission to our facility and exhaustive history taking, physical examination, and imaging, a prospective diagnosis of neurofibromatosis with mesenteric neurofibroma was made. Upon surgical exploration, a mesenteric mass with corresponding volvulized, ischemic small bowel was removed. Histopathology confirmed a plexiform neurofibroma. The patient recovered adequately and was discharged home without complications. CONCLUSIONS This case highlights the importance of exhaustive history taking to obtain an accurate diagnosis as well as the importance of a high index of clinical suspicion for mesenteric neurofibromatosis in patients with presumed or known neurofibromatosis and presenting with vague abdominal symptoms.

Testicular yolk sac tumour metastasis to the L2 vertebra.

The role of surgery for metastases to the vertebra from yolk sac tumours has not been established. The main treatment for disseminated disease is chemotherapy. We present a man in his 30s with a left orchiectomy for a testicular mixed germ cell tumour with a prominent yolk sac component who, 12 months later, developed an asymptomatic metastasis to the L2 vertebra unresponsive to chemotherapy and radiotherapy. The patient underwent resection of the L2 vertebral body, leaving a small residual tumour anterior to the vertebra attached to the great vessels. Pathology confirmed the diagnosis of a metastatic testicular yolk sac tumour in the vertebra. The postoperative MRI 6 months later demonstrated significant expansion of the tumour at the soft tissues anterior to the expandable titanium cage encasing the great vessels and extending to the paraspinal areas. Additional salvage surgery was not recommended because of the advanced stage of the tumour.

Monarticular rheumatoid arthritis of the elbow.

Rheumatoid arthritis (RA) is a chronic autoimmune disease characterised by symmetric inflammatory polyarthritis. However, RA limited to a single joint is extremely rare. Here, we report a middle-aged woman who presented with insidious right elbow arthritis. She had no other peripheral joint pain, tenderness or swelling. She had high-positive anti-cyclic citrullinated peptide antibodies. An MRI of the right elbow showed capsular distension, joint effusion and bone marrow oedema. Synovial biopsy revealed hyperplasia with lymphoplasmacytic infiltrate consistent with RA. Therapy with methotrexate 7.5 mg orally weekly was effective to control her inflammatory arthritis. This case highlights the relevance of synovial tissue analysis for patients presenting with chronic inflammatory monarthritis when the cause is not clinically evident, and the importance of considering RA even in the absence of polyarticular involvement. Delayed diagnosis and treatment of inflammatory monarthritis can lead to joint destruction and disability.

Late-Onset Metastatic Renal Cell Carcinoma to the Thyroid Gland: An Unusual Airway Emergency.

BACKGROUND Thyroid malignant lesions mostly present as an anterior neck mass with or without compressive symptoms. Infrequently, metastases from extra-thyroid neoplasms migrate to the thyroid gland. These lesions most commonly arise from renal cell carcinoma (RCC), which is the primary kidney malignancy in adults. This case parallels one of the longest latency periods described in the literature from a primary RCC with metastasis to the thyroid gland (TG). CASE REPORT We report a case of an 88-year-old female patient with past medical history of RCC resected 25 years earlier, who presented to the Emergency Department with a large left anterior neck mass causing dyspnea and stridor due to intra-tracheal extension. The airway symptoms progressed rapidly, and she required emergent management to secure the airway in the operating room. CONCLUSIONS This case reports a rare instance in which RCC metastasis presented with intra-tracheal extension causing airway compromise and the need for emergent airway management. It is the first time that use of cold instruments has been documented to excise RCC's intra-luminal tracheal lesion to secure the airway in an emergent case in a safe manner. With this surgical approach, the airway is secured by endotracheal intubation after excision of an intra-luminal tracheal lesion, with the benefit of avoiding awake tracheostomy in a patient with a distorted neck anatomy. Also, this case reinforces that metastatic RCC to the thyroid gland can occur 25 years after initial diagnosis. For this reason, we advocate lifelong monitoring in patients with the diagnosis of RCC.

Leptomeningeal Carcinomatosis as the Initial Manifestation of Metastatic Disease diagnosed in Postmortem Examination: A Case Series.

Leptomeningeal carcinomatosis (LMC) refers to the infiltration of malignant cells in the pia-arachnoids. LMC is undiagnosed until autopsy in about 20% of cases. A nonspecific neurologic symptomatology makes diagnosis challenging; especially in the scenario of unknown malignancy. Diagnosis is made by the identification of malignant cells in CSF; though studies have shown that serial examination may be required for acceptable accuracy. We report 3 cases with distinct neurological presentations, negative cerebrospinal fluid (CSF) examinations and neurological imaging. A 52 year old woman with history of breast cancer on remission, a 2 year old male with left ear rhabdomyosarcoma status post resection, and a 59 year old woman with communicating hydrocephalus of unknown etiology. LMC was diagnosed at autopsy and confirmed by immunohistochemistry. LMC is a complication requiring a high level of clinical suspicion. Postmortem examination is an invaluable tool to confirm LMC as part of the multidisciplinary approach aiming towards the improvement of clinical diagnosis.

First Autopsy of a Newborn with Congenital Zika Syndrome in Puerto Rico.

We report on the first autopsy performed on a neonate with congenital Zika syndrome in Puerto Rico. A term male was born to a mother with confirmed Zika virus infection; he had a prenatal diagnosis of microcephaly and multiple cerebral calcifications, among other anomalies, and a normal male karyotype (determined by amniocentesis). He required neonatal resuscitation at birth and died at 2 days ofage. At autopsy, his head circumference was only 1.5 standard deviations below the mean, not fulfilling the criteria for microcephaly. He presented scissor legs, clenched and hyperflexed hands, and multiple contractures (arthrogryposis). The central nervous system findings were consistent with Zika encephalopathy: ventriculomegaly, lissencephaly, and severe encephalic degeneration with numerous dystrophic calcifications, among other findings. These anomalies were most likely secondary to congenital ZV infection. Although prenatally diagnosed with microcephaly, he did not fulfill the criteria after birth, which fact indicates the need for reassessment of the definition of microcephaly as it applies to patients exposed prenatally to the ZV.

Chorioangioma: an uncommon cause of hydramnios and consequent preterm labor in second trimester of pregnancy.

Placental chorioangiomas are relatively common benign placental tumors occurring with an incidence of approximately 1% of histologically studied placentas. However, they show clinical manifestations in very rare pregnancies usually at a median gestational age of 28 weeks. Our report presents an interesting and rare case of severe hydramnios with consequent preterm labor and delivery in the second trimester leading to neonatal death due to placental chorioangioma. An earlier diagnosis could have led to closer monitoring and prevention of the development of severe hydramnios with resultant preterm labor.

Pilomyxoid astrocytoma in unusual location in a child with neurofibromatosis type 1: case report and review of the literature.

Pilomyxoid astrocytoma (PMA) is a recently defined brain tumor believed to be a variant of pilocytic astrocytoma (PA), but with a more aggressive course. Most PMAs occur in the optic-chiasmatic/hypothalamic (OCH) region but they have also been described in the posterior fossa, temporal lobe, and in the spinal cord. We report a girl with history of neurofibromatosis type 1 (NF-1) who presented with a PMA located in the left lateral ventricle. Despite the fact that most of PMAs occur in the hypothalamic region, high awareness should be given to lesions in unusual locations, thus expanding the current epidemiologically known locations for this tumor.

Bladder pheochromocytoma: case presentation and the use of OctreoScan for localization of extra-adrenal tumor sites in a pediatric patient.

An eleven year old boy presented with headaches and dizziness associated to micturition. On radiologic imaging, he was found with a bladder mass. The biochemical work up was suggestive of pheochromocytoma. An OctreoScan (111In-pentreotide) was used to rule out metastatic extension or other extra-adrenal locations of the pheochromocytoma. OctreoScan data correlated well with other radiologic studies, operative findings and with the final diagnosis, validating its use on pediatric patients.

Association of extensive brain calcifications, myelofibrosis, and retinopathy in a 12-year-old child.

We report a case of a 12-year-old boy with history of myelofibrosis and retinopathy who developed sudden neurological deficits associated with coagulopathy, multiorgan failure, and death. A fluorescent in situ hybridization study revealed monosomy of chromosome 7 in 21% of the bone marrow cells in support of his diagnosis of myelofibrosis. Postmortem neuropathology examination revealed multiple coarse and microcalcifications and cerebral hemorrhages, explaining the patient's neurological deterioration. The findings of myelofibrosis, retinopathy, and cerebral calcifications indicate that this could be a case of a rare condition known as Revesz syndrome.

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. Pathology examination of the cyst revealed a duodenal duplication. The accessory pancreatic papilla entering the closed duplication cyst was the main cause of the pancreatitis in this child.

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.

A multidisciplinary approach to surgical management of placenta previa percreta with bladder invasion: a case report.

Placenta previa percreta with bladder invasion occurs rarely. However this disorder has become more common since the increased rate of cesarean deliveries. We present a 26 year old gravida 3, para 2-0-1-2 female with placenta previa, percreta and bladder invasion to stress out the importance of early recognition of this life threatening condition and to point out that the good outcome of this case was mainly due to the multidisciplinary approach chosen during the preoperative and post operative management. The Departments of Obstetrics and Gynecology, Radiology, Anesthesiology, Urology, Neonatology and Pathology were fully involved. A surgical management was chosen since it is the most common and more accepted treatment of placenta previa percreta with bladder invasion.

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. Clinical presentation and autopsy findings are presented.

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. He was a pre-term male who died of respiratory failure at three hours old and, autopsy findings confirmed the clinical diagnosis. Internal examination showed hypoplastic lungs with normal lobation. The histological structure appeared normal and relatively mature; the diaphragm showed eventration and unilateral absence of musculature. This case shows the worst spectum of the Jarcho-Levin syndrome: pulmonary hypoplasia not compatible with extrauterine life. Since thoracic restriction is present during the fetal period, the degree of pulmonary hypoplasia probably defines survival beyond the neonatal period.

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. The pathologic diagnosis was that of a congenital cystic adenomatoid malformation. We discuss the clinical presentation, and pathology of this entity with a brief review of the literature.

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. A right salpingo-oophorectomy and appendectomy were performed. Pathology examination revealed a cavernous hemangioma of the ovary. The clinicopathologic presentation of this unusual benign ovarian tumor is discussed.

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. Autopsy revealed a hydropic baby with extralobar pulmonary sequestration and bilateral pulmonary hypoplasia. The clinicopathologic presentation of this unusual pulmonary developmental anomaly is discussed.

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. Autopsy findings revealed left cerebral hemiatrophy as an incidental findings. The clinicopathologic features and classification of this entity are discussed.