Background—Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classic features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches ...

A 17-year-old male presented to the emergency department with complaints of pain, paleness, and coldness in his left leg. In the peripheral angiography, total occlusion in the left popliteal artery was observed with ...

En-plaque tuberculoma is a rare manifestation of CNS tuberculosis and presents as a solitary, focal, caseous plaque-like lesion. It is difficult to differentiate en-plaque like meningeal tuberculoma from true primary ...

A case of atlanto-axial subluxation in a 5-year-old boy with Rubinstein /Taybi syndrome (RTS) is presented and the imaging findings are evaluated. To the best of our knowledge, atlanto-axial subluxation has not been ...

Uğuralp S, Demircan M, Çetin S, Sığırcı A. Bardet-Biedl syndrome associated with vaginal atresia: a case report. Turk J Pediatr 2003; 45: 273- 275. This is a case report of Bardet-Biedl syndrome associated with vaginal ...

Purpose: To investigate whether there are metabolite changes in basal ganglia of children with complete healing of rheumatic fever (RF), history of Syndenham chorea (SC) and obsessive compulsive-tic disorder (OCTD) developed ...

A malignant soft tissue hemangiopericytoma metastatic to the thoracic wall in a 65 year old man is reported. Although the MRI of both the primary and metastatic foci revealed complementary finding of a network of ...

Objective: Multiple sclerosis (MS) is an inflammatory disease characterized by demyelinating plaques in the white matter. Chronic cerebrospinal venous insufficiency (CCSVI) has been proposed as a new hypothesis for the ...

Rhizomelic chondrodysplasia punctata is a member of genetic peroxisomal disorders. Delayed myelination, which is probably related to the inadequacy of plasmalogens biosynthesis, is an important feature of this disorder. ...