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An 8-year-old boy with no significant medical history or family history presented with 1–2 weeks of decreased visual acuity and blurry vision. The patient denied any headaches, vomiting, dizziness, seizures or weakness. Physical examination was significant for poorly reactive pupils, constricted

BACKGROUND Aortopulmonary window is a rare conotruncal defect that is often associated with other congenital heart defects. We present a patient with a previously unreported combination of aortopulmonary window with tetralogy of Fallot with an absent conal septum. CASE PRESENTATION A term, 2.4 kg newborn male infant presented at a community hospital with cyanosis unresponsive to supplemental oxygen. Transthoracic echocardiography demonstrated a conotruncal defect with a large conoventricular ventricular septal defect and an over-riding, dysplastic aortic valve. The main pulmonary artery (MPA) appeared to arise from left facing sinus of the aortic valve, with confluent yet hypoplastic right and left branch pulmonary arteries. There was no evidence of prograde flow into the MPA in systole, though there did appear to be retrograde flow in diastole from the patent ductus. The patient underwent multiple advanced imaging studies, and the diagnosis was not fully elucidated. Postmortem examination demonstrated morphology consistent with Tetralogy of Fallot with the absence of the conal septum. There were two distinct semilunar valves in fibrous continuity with an aortopulmonary window immediately cephalad to the valve. DISCUSSION The rare combination of defects and the patient's size made the anatomic diagnosis by conventional imaging challenging. However, retrospective review of imaging studies did demonstrate anatomic features seen by direct examination of the specimen.

We present a case of a female neonate with a cluster of six skin colored to yellowish pseudovesicular papules on her right forearm present since birth, initially thought to be a herpes simplex virus infection. Punch biopsy with immunostaining revealed a diagnosis of S100-negative, CD163-positive congenital cutaneous non-neural granular cell tumor. Only four other reports are presented in the literature of this entity, three of which also presented on the arm with somewhat similar clinical findings. We briefly reviewed the subtypes of classic and S100-negative non-neural granular cell tumors.

A 20-year-old woman with a history of acute lymphoblastic leukaemia treated at 13 years old with radiation and chemotherapy and a benign cystic mature ovarian teratoma diagnosed at 18 years old presented with 6 weeks of headaches and vomiting. She did not report vision changes or other

Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which generally has a poorer outcome. We report a phenotypically normal child with AMKL with trisomy 21 (T21) and tetrasomy 21 clones. Subsequently, she was diagnosed with mosaic T21. She underwent reduced-intensity therapy with good outcome. We review the literature regarding AMKL-associated cytogenetic abnormalities and AMKL in association with DS. We suggest evaluation for mosaic T21 in phenotypically normal pediatric patients with T21-positive AML.

A 16-year-old boy with no significant medical history or family history sustained a concussion after an altercation. CT revealed an incidental finding of a heavily mineralised left inferior paramedian cerebellar lesion demonstrating cystic components ([figure 1A][1]). MRI revealed minimal peripheral

Pediatric autoimmune hepatitis (AIH) is relatively common and has a characteristic but relatively nonspecific histopathology with a usually prominent lymphoplasmacytic infiltrate. Herein, we describe for the first time the presence of characteristic hyaline droplets in the cytoplasm of Kupffer cells on routine hematoxylin and eosin (HE) sections in AIH. The medical records and pathologic material over a 20-year period (1992 to 2012) were reviewed from children with AIH (n=30), hepatitis B virus (n=30), and hepatitis C virus (n=30) from the pathology files at Boston Children's Hospital. All children had percutaneous needle liver biopsies. We reviewed sections stained with HE, PAS, and PAS with diastase for the presence of hyaline droplets in all 90 biopsies. We also performed immunohistochemical analysis for IgG, IgA, and IgD in 6 biopsies with AIH. Hyaline droplets were identified in Kupffer cells throughout the lobules in 15 of 30 biopsies (easily found in 13 and rare in 2); conversely, no droplets were identified in 15. Droplets were identified in 10 AIH type 1 biopsies, 1 in AIH type 2, 3 in overlap syndrome, and 1 in unclassified. Serum IgG levels, when available, were correlated with biopsy findings. Seventeen patients had serum IgG levels available for review. The average IgG level in patients without droplets in their biopsies was 1364 mg/dL, in contrast to 3424 mg/dL in patients with droplets (P=0.021). Immunohistochemical analysis performed in 6 biopsies revealed that droplets were nearly always positive for IgG, occasionally for IgA, and rarely for IgD. None of the biopsies in patients with hepatitis C contained hyaline droplets. One biopsy of a patient with hepatitis B revealed hyaline droplets; this biopsy had an unusually prominent plasmacytic infiltrate, and the patient was found to have an elevated IgG serum level and antibodies to smooth muscle actin. As far as we are aware, hyaline droplets in Kupffer cells on routine HE sections have never been described. They should be distinguished from the nonspecific granular lysosomal structures frequently found in Kupffer cells in a variety of chronic liver diseases and from erythrophagocytosis. Hyaline droplets may occur in AIH regardless of the type and correlate with a2-fold increase in serum level of IgG as compared with patients without droplets in their biopsies. Identification of hyaline droplets in Kupffer cells provides a useful diagnostic clue to distinguish AIH from other forms of chronic hepatitis.

Background Metastatic angiosarcoma to the brain is a rare entity without an established management protocol. Case Description A man with primary cardiac angiosarcoma presented with a rare brain metastasis. The patient underwent successful resection of the brain metastasis and was initiated on chemotherapy only for his systemic disease. The patient did not develop local recurrence. A review of primary and metastatic central nervous system angiosarcoma, its pathologic features, clinical disease course, treatment strategies, and genomics is also provided. Conclusions Angiosarcomas are rare tumors that are difficult to treat. Gross total resection of a central nervous system metastasis is recommended before initiation of adjuvant chemotherapy or radiation therapy. Close follow-up is still required given the propensity for continued metastasis of these tumors. Future treatments may be developed based on the genomics of angiosarcomas.

Anaplastic pleomorphic xanthoastrocytoma (PXA) is a newly recognized entity in the 2016 WHO classification of CNS tumors, characterized by elevated mitotic activity with or without necrosis, and shorter survival when compared with WHO grade II PXAs. BRAF V600E mutations are frequent. While grade II PXAs can often be managed surgically, there is no consensus on the optimal treatment for anaplastic PXA. Rarely, anaplastic PXA can present with leptomeningeal dissemination (LMD), which is associated with poor prognosis. We present a case of a 16-year-old girl diagnosed with a left frontal anaplastic PXA with BRAF V600E mutations and high grade features of necrosis. Following subtotal resection, cranial radiation, and temozolomide chemotherapy her tumor recurred with bulky, nodular LMD throughout the cervical, thoracic, and lumbar spine. She received palliative radiation to the thoracic spine and then started targeted therapy with dabrafenib with a partial radiographic response and then trametinib was added to dabrafenib with sustained response for 5 months. When the leptomeningeal tumor progressed, bevacizumab was added to the dabrafenib and trametinib therapy, and the patient remained stable for an additional 4 months. The combined therapy was very well tolerated; the patient experienced a grade II rash with initiation of dabrafenib, but no other side effects. To our knowledge this is the first time dabrafenib, trametinib, and bevacizumab have been combined to treat a pediatric high grade glioma. This is also the first report of BRAF inhibition in glial LMD. Our experience suggests that targeted therapy with dabrafenib and trametinib can be safely combined with anti-angiogenic therapy and may improve quality of life and survival in patients with LMD associated with high grade PXA. The growing experience with targeted therapy in rare pediatric gliomas may justify a need for a larger clinical trial.

A 64-year-old female presented with personality changes, acalculia, falls, headache and nausea. CT and MR imaging of the head revealed a homogeneously contrast-enhancing 7 cm x 4.4 cm x 4.4 cm right frontal dural-based mass, concerning for a meningioma. She underwent a right frontal craniotomy with complete resection. Post-operative pathology demonstrated sheets of lymphocytes and plasma cells with small numbers of germinal cells present. The infiltrate was limited to the dura and leptomeninges. Immunophenotype as demonstrated by immunohistochemistry and flow cytometry was diagnostic of an extranodal marginal zone lymphoma with extensive plasmacytic differentiation. Given the normal bone marrow biopsy and absence of disease on CT chest, abdomen, and pelvis, she was diagnosed with an extranodal primary dural-based marginal zone B-cell lymphoma (MZL) with plasmacytic differentiation. Primary dural lymphomas are a well-described subset of primary central nervous system (CNS) lymphomas that most commonly present as low grade lymphomas. MZLs generally carry a much better prognosis than typical diffuse large B-cell lymphomas. This case illustrates that hematopoietic malignancies should be considered in the differential diagnosis of dural based masses in addition to meningiomas or less common dural metastases, solitary fibrous tumors, leiomyosarcomas, and hemangiopericytomas. Typically dural based lymphomas have increased vasogenic edema compared to meningiomas. Unlike other extranodal MZLs, dural based MZLs have no strong association with chronic inflammatory conditions, infections, or immunosuppression. The literature supports that MLZs are very radiosensitive; with excision and low dose-localized radiation therapy, patients may remain disease free locally. However, systemic recurrence may occur, possibly because the dura is outside the blood brain barrier. Appropriate diagnosis is important as it has both prognostic and treatment implications.

We assessed if an ongoing, multifaceted quality improvement program improved mental health care in a low-income, uninsured primary care clinic.We reviewed the charts of 500 consecutive patients in 1999 and 500 consecutive patients in 2004 to compare the number of mental health visits; the percentage of patients with more than three follow-up visits; the percentage withor = 1 visit with a prescribing provider and the percentage with a psychiatric medication prescribed. We also assessed whether patients with more than one charted mental illness received more care than patients with one mental illness.Compared to 1999, patients in 2004 had significantly more visits in the first 120 days (acute phase) of treatment (3.16 vs. 4.81, P.001) and more visits in up to 9 months post acute phase (3.76 vs. 4.88, P.012). A higher percentage of patients in the acute phase (28.9% vs. 49.5%, P.001) had three follow-up visits, saw a medical provider and received a prescription. Patients with multiple charted mental illnesses had more visits than patients with one mental illness in 2004 but not in 1999 (P.001).An ongoing, multifaceted intervention improved the quality of mental health care in a primary care population with a high prevalence of mental illness.

Poor and uninsured people have increased risk of medical and psychiatric illness, but they might be more reluctant to seek care than those with higher incomes. Little information exists about the biopsychosocial problems and concerns of this population in primary care.We surveyed 500 consecutive patients (aged 18 to 64 years) in a primary care clinic serving only uninsured, low-income patients. We used self-report questions about why patients were coming to the clinic, a chronic illness questionnaire, the Primary Care Evaluation of Mental Disorders Patient Health Questionnaire, and items from the Childhood Trauma Questionnaire. Providers completed a questionnaire naming problems elicited from patients.Patients reported their most common chronic medical problems to be headaches, chronic back problems, and arthritis. The most common concerns patients wanted to discuss with providers and that providers elicited from patients were problems with mood. Compared with patients without current major mental illness, patients with a current major mental illness reported significantly (P.001) more concerns, chronic illnesses, stressors, forms of maltreatment and physical symptoms.The illness content of this uninsured, low-income population is dominated by emotional distress and physical pain. These needs place a serious burden on providers and can complicate management of chronic medical illnesses. Recommendations for specialized interview training and integrating mental health services are discussed.