Brandt Groh

Epstein Barr virus induced lymphoma in a child with IPEX syndrome.

IPEX syndrome (immune deficiency, polyendocrinopathy, enteropathy, X‐linked) is a disorder or regulatory T cell (Treg) function which can result in early death due to infection or complications related to autoimmunity. Therapeutic options for these patients can include allogeneic stem cell transplantation (SCT) or the use of immunosuppressive regimens to control the manifestations of autoimmunity. We report a patient with IPEX syndrome who was managed with rapamycin and subsequently developed EBV induced lymphoma. Pediatr Blood Cancer 2008;50:1056–1057.

Lyme Disease Presenting as Popliteal Cyst in Children

Lyme disease is the most common tick-borne disease in North America. Our review of the literature found few reports of Lyme disease presented in the orthopaedic literature. However, Lyme disease presenting as a popliteal cyst, with or without rupture, is rarely reported. We present 4 cases of Lyme disease that initially presented to our pediatric orthopaedic clinic for treatment of a popliteal cyst. The early diagnosis and treatment of Lyme disease may help prevent the often-devastating long-term sequelae of Lyme disease. The goal of this article is to increase the awareness of Lyme disease presenting in children as a popliteal cyst.

Papular xanthomas and erosive arthritis in a 3 year old girl, is this a new MRH variant?

Xanthomatous skin lesions and arthritis in children are not a common association. We present the case of a 3 year old girl who presented with xanthomatous lesions in the periungual region of both hands, around the nares and on her forehead, associated with significant arthritis that was clinically compatible with multicentric reticulohistiocytosis. However, pathology of the xanthomatous lesions was more suggestive of papular xanthoma, a disease that is not associated with arthritis. Based on her presentation and the negative lipid workup, she was treated for presumed multicentric reticulohistiocytosis. Multiple treatment strategies were utilized, with improvement on a combination of infliximab, methotrexate, and prednisone. We review the different diagnoses that should be considered in children with xanthomas and arthritis as well as the different pharmacologic therapies used in children with multicentric reticulohistiocytosis.

Bisphosphonate therapy for chronic recurrent multifocal osteomyelitis

This patient was diagnosed with chronic multifocal recurrent osteomyelitis of the ankle approximately 4 years prior to the presented images. Multiple treatments were administered, most notably monthly intravenous pamidronate, a therapy that was continued for 17 months, until recrudescent disease prompted a change in therapy. At the time of the presented images, the patient had not received bisphosphonate therapy for 2 years. Bisphosphonates are a class of medications used primarily in adult patients with decreased bone mineral density. When the drug is incorporated into the hydroxyapatite matrix of nascent bone, osteoclastic activity is inhibited, and as a result, bone mineral density increases. Also used in patients with expansile bone lesions, the decrease in osteoclastic activity serves to slow the progression of enlargement, demonstrating an analgesic effect. Finally, it is thought that bisphosphonates engender a direct anti-inflammatory response by altering the inflammatory cascade [1]. In children, bisphosphonates have been used for the treatment of conditions resulting in low bone mineral density, such as osteogenesis imperfecta [2]. Furthermore, several recent studies have demonstrated the effectiveness of bisphosphonate therapy as a second-line treatment for CRMO-associated pain [3]. Most CRMO treatment regimens consist of daily infusions of IV pamidronate for 1–3 days, repeated every 3 months [1, 3, 4]. Pain relief is usually rapid, within days of initiation, and resolution of inflammation by MR imaging follows in up to 80 % of patients [2]. Radiologically, the cyclical inhibition of osteoclast activity in the skeletally immature patient gives rise to dense metaphyseal bands migrating longitudinally from the zone of provisional calcification into the diaphysis, as previously described [5, 6]. Additionally, undertubulation of the affected areas, as well a “bone within a bone” appearance can be seen [7]. The presence of metaphyseal bands engenders differential considerations such as lead poisoning and hypervitaminosis D, as well as causes of standard growth recovery lines (times of malnutrition, severe illness, etc.). As none of the causes of metaphyseal bands are common, the interpreting radiologist may be inspired to suggest further testing when confronted with this unusual finding. However, the recognition of focal undertubulation (most striking at the distal femur in this case) helps cinch the diagnosis. Recognition of these findings can be clinically important, as the abrupt change of bone mineral density at the dense bands has been implicated as a stress riser, similar to the interface between a prosthesis and native bone [8]. The potential increase in fracture risk presented by these bands may prompt a change in the duration of therapy.

An assessment of variables affecting transition readiness in pediatric rheumatology patients.

BackgroundWe sought to identify which adolescent patient characteristics might lead to subjective reported independence in accessing medical care when patients transition from pediatric to adult medicine.MethodsPediatric and adult rheumatologists were asked which pediatric patient characteristics they believed would improve transition to adult medical care. Based on these responses, a questionnaire was created and administered to 76 teenage/young adult patients in a pediatric rheumatology clinic. The first set of questions included demographic, disease features, and life skills questions. The second set of questions pertained to self-reported independence in managing medical care. Data was analyzed to see if there were any significant associations between an individual’s response to demographic, disease feature, or life skills questions and the independence outcome questions.ResultsIn our study, older age correlated with self-reported independence in almost all questions asked regarding accessing medical care. Other patient characteristics that were associated with increased self-perceived autonomy included having a younger parent, having a family member with a similar disease, longer disease duration, having a comorbid non-rheumatic diagnosis, and having had a summer job.ConclusionsThe patient characteristics that we found associated with self-reported independence in obtaining medical care should be considered when determining which patients might be more likely to make a successful transition.

Lyme arthritis outcomes in children: a single center cohort study

Methods Children evaluated in the pediatric rheumatology clinics of Penn State Children’s Hospital and diagnosed with Lyme arthritis between 2002 and 2010 were reviewed from initial contact to the most recent follow-up documentation available. The diagnosis of Lyme arthritis in all cases was based on the presentation of synovitis and/ or enthesitis in combination with positive Western blot assays by CDC criteria. Children with transient arthritis ( 3 mo) by presenting laboratory features and clinical features throughout their follow-up.

Neuroblastoma versus systemic JIA – a diagnostic dilemma

Methods A retrospective chart review was completed on all patients less than age 18, between 1990 and 2009 at Pennsylvania State University Children’s Hospital, with a diagnosis of either sJIA or NB. The following variables were identified at the time of presentation; gender, age, race, time to diagnosis, presenting signs and symptoms, neuroblastoma stage, LDH, uric acid, sedimentation rate, CRP, platelet count, hemoglobin, peripheral white blood cell count, percentage of neutrophils and lymphocytes, ferritin, and d-dimer. Other categorical information included whether or not the patients had gait disturbance or extremity pain, fever, rash, abdominal mass, arthritis, fatigue, or weight loss. Individual logistic regression models were evaluated for each variable, with sJIA or NB as the outcome. Given that patients with NB and extremity pain may be referred to orthopedics or rheumatology first, instead of a timely referral to hematology/oncology, a subgroup analysis was completed for those patients.