Effective Treatment With Oral Propranolol for Congenital Intracranial Hemangioma in a Neonate: A Case Report and Literature Review.

Congenital intracranial hemangiomas are rare benign vascular tumors that develop before birth. Although various treatments, including surgery, steroids, interferon-α, thalidomide, bevacizumab, or propranolol, have been reported, no standard therapy has been established. We report the case of a neonate with congenital intracranial hemangioma and central nervous system symptoms requiring therapeutic intervention.

Vogt-Koyanagi-Harada disease developed during chemotherapy for Hodgkin lymphoma: a case report.

Background: Ocular manifestations are known for non-Hodgkin lymphoma, but are rare for Hodgkin lymphoma. We report a case of Vogt-Koyanagi-Harada (VKH) disease presenting as serous retinal detachment and uveitis in both eyes in a child undergoing chemotherapy for Hodgkin lymphoma.

Case Presentation: The patient was a 7-year-old boy with stage IIB Hodgkin lymphoma (nodular lymphocyte predominant type) who was undergoing chemotherapy, including 2 cycles of the OEPA regimen and 1 cycle of the COPDAC regimen.

Selumetinib in Japanese pediatric patients with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas: An open-label, phase I study.

Background: Plexiform neurofibromas (PN) are a manifestation of neurofibromatosis type 1 (NF1) that may cause morbidity and impact health-related quality of life (HRQoL). Selumetinib (ARRY-142886, AZD6244) is an orally available, selective, mitogen-activated protein kinase kinase 1/2 inhibitor approved for children with NF1 and symptomatic, inoperable PN in regions including the USA (aged ≥2 years), EU (≥3 years), and Japan (≥3 years). This open-label, single-arm, phase I study evaluated selumetinib in Japanese children with NF1 and symptomatic, inoperable PN.

Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation.

Hepatosplenic T-cell lymphoma (HSTCL) is a rare subtype of peripheral T-cell lymphoma that occurs most often in adolescents and young adults and is rare in children. Because of the aggressive clinical course, resistance to conventional chemotherapy and poor prognosis of HSTCL, an effective treatment has not been established. We report the case of a 3-year-old girl with HSTCL presenting with trilineage myelodysplasia.

Aggressive B-Cell Lymphoma Involving the Appendix and Bilateral Ovaries in an 11-Year-Old Girl.

Background: The appendix and ovaries are rarely involved simultaneously in malignancies. The decision to perform an ovarian biopsy or a surgical resection in young patients can be challenging without sufficient clinical information.

Case: We describe an 11-year-old girl with bilateral ovarian masses, an enlarged appendix, associated pleural effusion, and ascites.

A pediatric case of central skull base osteomyelitis caused by Streptococcus milleri group infection and mimicking malignancy.

Central skull base osteomyelitis (CSBO) that has expanded to the middle cranial fossa is a rare complication of nasopharyngeal infection in children. Diagnosing CSBO is challenging in children, because specific symptoms are lacking and imaging findings can mimic skull base malignancy. We report on a 3-year-old girl who complained of pyrexia, headache, and vomiting and in whom a mass around the clivus was detected with magnetic resonance imaging.

Genetic Profile and Microsatellite Instability in a Case of Secondary Esophageal Squamous Cell Carcinoma 12 Years After Allogeneic Hematopoietic Stem Cell Transplantation for Aplastic Anemia.

We report on a 16-year-old Japanese boy in whom an esophageal squamous cell carcinoma (ESCC) developed 12 years after allogeneic hematopoietic stem cell transplantation was performed for aplastic anemia. A high frequency of microsatellite instability was detected in samples of ESCC. Moreover, the detection of pathogenic variants, including single nucleotide substitution of TP53 (c.

NOTCH1 pathway activating mutations and clonal evolution in pediatric T-cell acute lymphoblastic leukemia.

Molecular mechanisms involved in the relapse of T-cell acute lymphoblastic leukemia (T-ALL) are not fully understood, although activating NOTCH1 signaling due to NOTCH1/FBXW7 alterations is a major oncogenic driver. To unravel the relevance of NOTCH1/FBXW7 mutations associated with relapse, we performed whole-exome sequencing in 30 pediatric T-ALL cases, among which 11 diagnosis-relapse paired cases were further investigated to track the clonal evolution of relapse using amplicon-based deep sequencing. NOTCH1/FBXW7 alterations were detected in 73.

Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia.

The outcome of treatment-refractory and/or relapsed pediatric T cell acute lymphoblastic leukemia (T-ALL) is extremely poor, and the genetic basis for this is not well understood. Here we report comprehensive profiling of 121 cases of pediatric T-ALL using transcriptome and/or targeted capture sequencing, through which we identified new recurrent gene fusions involving SPI1 (STMN1-SPI1 and TCF7-SPI1). Cases positive for fusions involving SPI1 (encoding PU.

Atypical clinical features of children with central nervous system tumor: Delayed diagnosis and switch in handedness.

Herein is described the cases of three children with central nervous system (CNS) tumor, who had switch in handedness occurring before diagnostic confirmation. Although the onset, age, tumor location, and histology were heterogeneous, the diagnosis of CNS tumor was delayed in all three patients. The present experience indicates that switch in handedness should be recognized as a sign of CNS tumor in pediatric patients, and which might prevent delay in diagnosis.

The relationship between trans-femoral prosthesis alignment and the center trajectory of plantar pressure in the frontal plane.

[Purpose] It is difficult to identify by visual observation whether alignment abnormalities in trans-femoral prostheses in the frontal plane are attributable to the adduction angle or the abnormal alignment of the positions of the medial and lateral sides of the socket in relation to the foot. Therefore, we focused on the trajectory of the center of plantar pressure during walking, and we proposed a method for differentiating these two alignment abnormalities. [Subjects and Methods] We recruited 4 trans-femoral unilateral amputees.

[Maternal Crohn's disease-related vitamin B12 deficient megaloblastic anemia in an infant].

We report an 11-month-old breast-fed boy with feeding difficulties, lethargy, and developmental delay. Blood examination showed pancytopenia and decreased serum levels of vitamin B12. Anisocytosis and poikilocytes were detected in his peripheral blood, and increased megaloblastosis without leukemic cells was detected in his bone marrow.