Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles

BackgroundThe diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1.Patients and methodsCase–control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included.ResultsThe prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4–99.96%] and a positive predictive value (PPV) of 98.80% [92.54–99.94%] were estimated for NA and a specificity of 99.27% [95.4–99.96%] and a PPV of 92.86% [64.17–99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001).ConclusionsNA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.     

Juvenile psammomatoid ossifying fibroma in paranasal sinus and skull base

Conclusion: The endoscopic transnasal approach with IGS is a safe and effective technique, allowing completely resection of JPOF, with minimal morbidity and recurrence.

Objectives: JPOF is a benign but locally aggressive fibro-osseous lesion. This study presents a series of JPOF cases, involving anterior skull base and orbit, treated by endoscopic transnasal approach with image guidance system (IGS) to resect the mass completely.

Method: This study retrospectively reviewed the clinical presentations, surgical procedures, and complications of 11 patients with JPOF who were treated by endoscopic approach from May 2009 to April 2014. All patients were followed by endoscopic and CT scan evaluations during follow-up.

Results: All of the 11 cases were boys, with a mean age of 11.8 years (range?=?6–17 years). The size of mass in the paranasal sinus ranged from 2.5–4.6?cm in greatest dimension (mean?=?3.7?cm), and the medial orbital wall and cranial base were involved in all patients. All 11 patients received successful operation and were relieved from symptoms without mortality and major complications. During follow-up (range from 17–67 months; mean follow-up?=?25.8 months), only one patient was recurrent in local position. The skull base partial resected during surgery was found to rebuild after 1 year.     

Varicella vaccination elicits a humoral and cellular response in children with rheumatic diseases using immune suppressive treatment

ObjectiveTo assess humoral and cellular responses to live-attenuated varicella zoster virus (VZV) vaccination of patients with juvenile idiopathic arthritis (JIA), juvenile dermatomyositis (JDM) or juvenile scleroderma (JScle) compared to those of healthy controls (HC).MethodsBefore, 4–6 weeks and one year after VZV vaccination, blood samples of patients and HC were collected. VZV-specific antibody concentrations were measured by ELISA and multiplex immune-assay. IFN-γ ELISpot assays were performed to assess VZV-specific T-cell responses. Cytokine production upon VZV stimulation were measured with a Luminex-assay.Results49 patients (39 JIA, 5 JDM, 5 JScle) and 18 HC were included. All patients used methotrexate (MTX), 16 also used corticosteroids, 3 patients used biologics. No disease flares were reported after vaccination. Antibody response to the vaccine was similar in patients and controls (p = 0.139). Use of immunosuppressive drugs did not affect the response (p = 0.203). A second vaccination (n = 21) increased VZV-specific antibody concentrations (p = 0.02). VZV-specific T-cells increased after vaccination (p = 0.043), with a cytokine profile suggesting a VZV-specific Th1 and cytotoxic T-cell response.ConclusionThe humoral response to VZV vaccination in patients with pediatric rheumatic diseases (PRD) is similar to that of HC. Generally, patients are able to mount a VZV-specific cellular response.This study has been registered in the Brazilian Clinical Trials Registry under number U1111-1189-9837.     

Juvenile cervical intervertebral disc calcification presenting as an embedded retropharyngeal foreign body

Juvenile intervertebral disc calcification (JIDC) of the cervical spine is an uncommon, self-limited condition. Though usually asymptomatic, JIDC can cause fevers, malaise, neck pain, and stiffness, raising concern for more common and dangerous pediatric diagnoses including retropharyngeal infection or esophageal foreign body. Prompt identification of JIDC is critical to avoid inappropriate surgical intervention. We present a case of a six-year-old male with a retropharyngeal phlegmon and cervical spine calcification raising suspicion for an embedded retropharyngeal foreign body. A literature review of pediatric retropharyngeal foreign bodies and JIDC is discussed to promote recognition of each of these rare and distinct conditions.     

Combining Drug Court with Adolescent Residential Treatment: Lessons from Juvenile and Adult Programs

ABSTRACT

Drug courts have been recognized and empirically supported as an effective means of reducing recidivism and use of substances for both juveniles and adults. The paper reports the results of an outcome evaluation of a juvenile drug court in the Upper Cumberland area of Middle Tennessee. As with previous studies, the program showed impressive outcomes for many juveniles. Improvements, however, may be possible. Adding a residential component similar to the one for adults currently operated by the Davidson County Drug Court might enhance program retention, provide housing opportunities during treatment for neglected and abused youth, and offer opportunities for more regular and intensive supervision of specific juveniles. Such programs would likely be both practical and fundable, and should be considered by courts and treatment providers.     

Entirely endoscopic resection of a complicated juvenile psammomatoid ossifying fibroma of the paranasal sinusitis: Case report and review of the literature

IntroductionJuvenile ossifying fibroma (OF) is a benign fibro-osseous tumor, affecting the bones of the face. It’s locally very aggressive, with a strong tendency to recur. We report a case of a juvenile psammomatoid ossifying fibroma (JPOF) complicated with exophthalmos undergoing an entirely endoscopic resection.Clinical presentationA 14-years-old, young woman presented with a 7 months history of headache and right chronic tearing complicated with exophthalmos. Nasal endoscopy revealed a polylobed mass filling the right nasal cavity, the ophthalmic examination showed an isolated exophthalmos. CT scan revealed a well-limited benign mass covered by a thick shell of bone, pushing out the orbital lamina papyracea responsible for a grade 1 exophthalmos. On the facial MRI, we excluded intracranial or intraorbital involvement. A biopsy of the mass describes a psammomatoid juvenile ossifying fibroma. The patient underwent endoscopic transnasal approach with image-guided neuro-navigation system.Clinical discussionJPOF is an aggressive variant of ossifying fibroma occurring predominantly in children with a predilection for the paranasal sinuses. CT scan images show a characteristic well-limited benign expansile mass covered by a thick shell of bone, but sometimes it’s mistaken for a mucocele. MRI helps with excluding intracranial or intraorbital involvement. Endonasal endoscopic approaches have been increasingly used and it tends to become the new standard of care.ConclusionTreatment consists of complete surgical removal; incomplete resection is associated with a high local recurrence rate. Clinician should keep in mind the need for clinical and radiological follow-up for many years.