Guillain-Barré syndrome (GBS) and transverse myelitis may occur coexistently in the pediatric population. This may be explained by a shared epitope between peripheral and central nervous system myelin. Coexistent transverse myelitis, myositis, and acute motor neuropathy in childhood have not been previously described. We describe a 14-year-old female patient with transverse myelitis, myositis, and GBS following Mycoplasma pneumoniae infection. She presented with weakness and walking disability. Weakness progressed to involve all extremities and ultimately, she was unable to stand and sit. Based on the clinical findings, a presumptive diagnosis of myositis was made at an outside institution because of high serum creatine kinase level. The patient was referred to our institution for further investigation. Magnetic resonance imaging of spine revealed enhancing hyperintense lesions in the anterior cervicothoracic spinal cord. The electromyography revealed acute motor polyneuropathy. Serum M. pneumoniae IgM and IgG were positive indicating an acute infection. Repeated M. pneumoniae serology showed a significant increase in Mycoplasma IgG titer. The patient was given intravenous immunoglobulin for 2 days and clarithromycin for 2 weeks. She was able to walk without support after 2 weeks of hospitalization. This paper emphasizes the rarity of concomitant myositis, transverse myelitis, and GBS in children.

Non-specific incidental white matter changes may be seen in children with headache. For normal clinical follow up, in the absence of evident benefits from repeated imaging studies, we suggest that repeated imaging studies are not warranted in every patient and should be tailored according to clinical course.

Objectives Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD. Methods We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs. Patients who were included in the analysis considering the possible PMD were reviewed retrospectively and scored according to the Mitochondrial Disease Criteria Scale. Results Sixty-one percent of the patients were diagnosed with whole-exome sequencing (WES) (36/59) and 15% with targeted exome sequencing (TES) (9/59). Patients with MD-related gene defects were included in the mito group, patients without MD-related gene defects were included in the nonmito group, and patients in whom no etiological cause could be identified were included in the unknown etiology group. In 11 out of 36 patients diagnosed with WES, a TES panel was applied prior to WES. In 47 probands in 39 genes (SURF1, SDHAF1, MTO1, FBXL4, SLC25A12, GLRX5, C19oRF12, NDUFAF6, DARS2, BOLA3, SLC19A3, SCO1, HIBCH, PDHA1, PDHAX, PC, ETFA, TRMU, TUFM, NDUFS6, WWOX, UBCD TREX1, ATL1, VAC14, GFAP, PLA2G6, TPRKB, ATP8A2, PEX13, IGHMBP2, LAMB2, LPIN1, GFPT1, CLN5, DOLK) (20 mito group, 19 nonmito group) 59 variants (31 mito group, 18 nonmito group) were detected. Seven novel variants in the mito group (SLC25A12, GLRX5, DARS2, SCO1, PC, ETFA, NDUFS6), nine novel variants in the nonmito group (IVD, GCDH, COG4, VAC14, GFAP, PLA2G6, ATP8A2, PEX13, LPIN1) were detected. Conclusions We explored the feasibility of identifying pathogenic alleles using WES and TES in MD. Our results show that WES is the primary method of choice in the diagnosis of MD until at least all genes responsible for PMD are found and are highly effective in facilitating the diagnosis process.

Quality of life and sleep in children diagnosed with duchenne muscular dystrophy and their mothers' level of anxiety: a case-control study Objective: Duchenne Muscular Dystrophy (DMD) is the most severe form among a variety of muscular dystrophies. While studies into the etiology and pathophysiology of DMD have progressed fast, there still is no therapy for the disease. The presence of a severe chronic disease such as DMD can seriously affect patients as well as caregivers. In this study, we planned to compare quality of life and sleep between cases diagnosed as DMD and healthy controls while at the same time assessing the levels of anxiety in the patients' mothers. Method: In this study, 17 cases with a diagnosis of DMD and 20 healthy controls were enrolled. All the patients and controls were male. The social status of patients and controls was assessed with a sociodemographic data form. To evaluate the children's quality of life, the Pediatric Quality of Life Inventory (PedsQL) was completed by children and parents. The Pittsburgh Sleep Quality Index (PSQI) is a selfreported questionnaire used to evaluate the quality of sleep in children. We measured the mothers' anxiety with the State-Trait Anxiety Inventory (STAI) -state anxiety and trait anxiety forms. Mann-Whitney U test and chi square test were used for statistical analysis. Results: A statistically significant difference was found in comparing both parents' and children's PedsQL forms between patients and controls. The quality of sleep also differed significantly between cases and controls. In the STAI state and trait anxiety forms, no significant difference was found between the anxiety levels of patients' mothers and the control persons' mothers. Conclusion: As key result of our study, we found that there are more problems in the DMD patients' sleep, and the quality of life is lower than in the healthy controls. Problems in motor functionality may affect emotional and social functionality and possibly the quality of children's sleep. Keywords: Anxiety, duchenne muscular dystrophy, quality of life, sleep ÖZET Duchenne muskuler distrofisi tanısı olan çocukların yaşam ve uyku kaliteleri ile annelerinin anksiyete düzeyi: Bir olgu kontrol çalışması Amaç: Duchenne musküler distrofi (DMD) birçok musküler distrofi arasında en ciddi olanıdır. DMD'nin etyolojisi ve patofizyolojisi üzerine yapılan araştırmalardaki hızlı ilerleyişe rağmen, tedavisi henüz mümkün değildir. DMD gibi ciddi kronik bir hastalığın varlığı hem hastalar hem de bakımverenler üzerinde büyük etkilere sebep olabilir. Biz bu çalışmada DMD tanılı olgular ile sağlıklı kontrollerin yaşam ve uyku kalitesini karşılaştırmayı aynı zamanda olgu ve kontrollerin annelerinin de anksiyete düzeyini değerlendirmeyi planladık. Yöntem: Çalışmaya 17 DMD tanılı olgu ile 20 sağlıklı kontrol dahil edilmiştir. Olgu ve kontrollerin hepsi erkektir. Olgu ve kontrollerin sosyal durumu sosyodemografik veri formu ile değerlendirilmiştir. Çocukların yaşam kalitelerini değerlendirmek için çocuklar ve ebeveynleri ta...

A 14-year-old male presented with paresthesias on the right upper and lower extremities, headache, and vomiting. In addition to worsening paresthesia and weakness on the right side of his body, blurred vision, fever, and skin lesions developed. He also had skin lesions characterized with 3-10 mm papules with a white atrophic center surrounded by pink rim mostly on the trunk and lower extremities. Brain magnetic resonance imaging showed chronic subdural effusion and encephalomalacia of the left cerebral hemisphere. Cerebrospinal fluid (CSF) examination revealed increased protein levels. Electromyography was consistent with diffuse polyradiculoneuropathy. Skin biopsy confirmed the diagnosis of a rare vasculopathy: Degos disease. A case presenting with chronic subdural effusion, encephalomalacia, elevated CSF protein, and polyradiculopathy should be carefully examined for skin lesions, which may suggest the diagnosis of Degos disease.