Myelin oligodendrocyte glycoprotein antibody-associated disease as a novel presentation of central nervous system autoimmunity in a pediatric patient with Wiskott-Aldrich syndrome.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by mutations in the WAS gene that leads to increased susceptibility to infections, thrombocytopenia, eczema, malignancies, and autoimmunity. Central nervous system (CNS) autoimmune manifestations are uncommon. CASE PRESENTATION: We describe the case of a five-year-old boy with refractory thrombocytopenia and iron deficiency anemia who developed relapsing bilateral optic neuritis. Myelin oligodendrocyte glycoprotein antibody (MOG-IgG) via serum fluorescence-activated cell sorting assay was positive (titer 1:100), confirming a diagnosis of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). At age six, molecular panel testing for genes associated with primary immunodeficiency identified a missense WAS gene variant. He was subsequently found to have decreased WAS protein expression, consistent with a diagnosis of WAS. CONCLUSIONS: This case expands the reported spectrum of CNS autoimmunity associated with WAS and may help to inform long-term therapeutic options.

Intramuscular Hematoma as a Manifestation of IgA Vasculitis.

We describe an atypical pediatric case of immunoglobulin A vasculitis (IgAV), also referred to as Henoch-Schönlein purpura, in which formation of spontaneous hematoma of the paraspinal muscles developed. Spontaneous or unprovoked hematomas rarely occur in IgAV. These manifestations have not been described specifically in the pediatric literature as coinciding with IgAV. These findings are alarming for nonaccidental trauma, particularly in a patient without underlying blood dyscrasia. Our objective for this report is to highlight the possible association of muscular hematoma formation with IgAV and to help providers consider this association when trauma and hemophilia has been ruled out.

Do pediatric hematology/oncology (PHO) fellows receive communication training?

PURPOSE: The Accreditation Council for Graduate Medical Education (ACGME) has established communication as a core competency for physicians in training. However, data suggest that most pediatric residents perceive inadequate training in the delivery of bad news and the majority of former trainees in pediatric oncology received no formal training in the delivery of bad news during fellowship. The study examines communication training in ACGME accredited US pediatric hematology-oncology (PHO) fellowship programs. METHODS: An online survey was distributed to 315 PHO fellows in training via the American Society of Pediatric Hematology/Oncology (ASPHO) fellow email registry. Each fellow received an initial request to participate and 2 reminders, while participation was encouraged through a random incentive drawing. RESULTS: One hundred and ten fellows (35%) responded. Eighty percent of respondents perceived communication training to be important to fellow education, however only 32% reported receiving communication training (other than direct observation). The most common reported teaching method of fellowship communication training was formal lecture (42%). Twenty-three percent of respondents reported neither communication training nor frequent feedback on their communication skills from faculty observation. This same group was the least satisfied with their programs' approach to teaching communication (P < 0.001). CONCLUSIONS: There is limited communication training in PHO fellowships despite ACGME requirements and fellows' interest in this training. Didactic learning remains the most frequently described training method, yet educational theory identifies the limitation of didactic lectures alone. Communication training employing novel teaching methods and emphasizing communication challenges identified by fellows should be developed and evaluated.