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Article
Inflammatory milieu of muscle biopsies in juvenile dermatomyositis
Juvenile dermatomyositis (JDM) is an inflammatory myopathy which causes severe morbidity and high mortality if untreated. In this study, we aimed to define the T-helper cell profile in the muscle biopsies of J...
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Article
Niemann-Pick disease type C in the newborn period: a single-center experience
Niemann-Pick disease type C (NPC) is a neurovisceral lysosomal storage disorder with a great variation in clinical spectrum and age at presentation. Clinical features of 10 NPC patients who presented in the ne...
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Article
Open AccessNext generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each o...
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Article
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients
A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intelle...
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Article
Open AccessProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or pr...
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Article
Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
We report an infant diagnosed with Majewski osteodysplastic primordial dwarfism type II at age 8 months, who experienced cerebrovascular morbidities related to this entity. Molecular analysis identified c.2609...
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Article
Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency
We describe seven Turkish children with DOCK8 deficiency who have not been previously reported. Three patients presented with typical features of recurrent or severe cutaneous viral infections, atopic dermatit...
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Article
Prenatal diagnosis of Pena-Shokeir syndrome phenotype by ultrasonography and MR imaging
Pena-Shokeir syndrome phenotype is characterized by neurogenic arthrogryposis, facial anomalies, polyhydramnios and lung hypoplasia. Prenatal US is crucial in showing Pena-Shokeir syndrome phenotype in additio...
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Article
Recurrent pseudotumoral hemicerebellitis: neuroimaging findings
We present the case of a 13-year-old girl with pseudotumoral hemicerebellitis that recurred 22 months after the first episode together with conventional MR imaging findings and diffusion-weighted imaging and M...
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Article
Calpain-3 mutations in Turkey
Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement of the proximal limb girdle muscles; th...
