INTRODUCTION: Childhood spinal cord tumours may lead to spinal deformity. Rapid scoliosis progression, a left thoracic curve and early onset scoliosis are associated with an increased risk of intraspinal anomalies, therefore magnetic resonance imaging (MRI) should be performed. CASE PRESENTATION: A 1-year-old girl presented with progressive early onset scoliosis. MRI of the spine showed diffuse intramedullary lesion at vertebral level T5 – T11 and abnormal curvature of the thoracic spine to the right – 39-degree Cobb angle, after a few moths – 71-degree. Blood and cerebrospinal fluid examination ruled out a neuroinfection and autoimmune diseases. Histology revealed BRAF V600E-mutant pilocytic astrocytoma (PA) (IDH non-mutant), DNA methylation profiling – PA, MGMT promoter methylation – not detected, SNP-A karyotyping – normal. Treatment with weekly vinblastin was started due to non-operable tumour and progressive scoliosis. Spinal deformity was managed using serial casting with only mild correction of curvature. In the second case report, a 14-year-old boy either presented with progressive scoliosis. Spine x-ray showed abnormal curvature of the thoracic spine to the left - 89-degree Cobb angle and after a few years - 120-degree. MRI of the spine detected intramedullary tumour masses located at vertebral level T3-T5. Surgical resection revealed BRAF V600E-mutant PA (IDH, ATRX, TERT non-mutant), DNA methylation profiling – PA, MGMT promoter status – not methylated, SNP-A karyotyping – non-specific trisomy of chromosome 5. The patient was followed-up by routine spine MRI. However, after 8 months new spinal cord masses appeared. It was decided to correct scoliosis only after the total tumour removal. CONCLUSIONS: Intramedullary spinal tumours are overall rare in the pediatric population. Of these, PA accounts for the majority, however treatment remains challenging. BRAF V600E mutation has relatively high frequency in PA. This mutation identification opens more treatment options such as targeted therapy with BRAF V600E and MEK inhibitors for progressive disease.
Introduction There is still lack of knowledge of drug allergy in children. Proper knowledge and management of drug hypersensitivity reactions is important to physicians. Aim To evaluate the approach of primary care doctors regarding drug allergy in children. Material and methods A total of 195 primary care doctors were questioned in various parts of Lithuania from 2015 to 2016. An original questionnaire was used. The incidence of a suspected drug allergy, culprit drugs, the clinical pattern and management of the suspected drug hypersensitivity were analysed. Results The majority of primary care doctors (74.4%) reported a suspected drug allergy. The main suspected drugs were antibiotics (95.2%) and nonsteroidal anti-inflammatory drugs (32.4%). Skin symptoms (skin rash (100%) and itching (82.1%)) were the main symptoms of the suspected drug allergy. The vast majority of doctors (93.8%) withdrew the use of a suspected drug and 68.3% of respondents prescribed an alternative drug. The fact that skin tests, blood tests and provocation tests could be used in a drug allergy workup were indicated by 43.6% of doctors. Most doctors (69.2%) knew about the opportunity to test children for drug allergy in Lithuania and 41.4% of doctors referred patients for the further drug allergy workup. Conclusions The majority of primary care doctors reported a suspected drug allergy in children. The most common suspected drugs were antibiotics and skin symptoms were the main symptoms. Most doctors knew about the possibility to test for the drug allergy but only less than half of them referred patients for the drug allergy workup.
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