McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report.

McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations.

Hemimegalencephaly with polymicrogyria - a case report.

Hemimegalencephaly on magnetic resonance imaging scan (MRI) consists of cortical gray matter almost uniformly abnormal, areas of increased thickness of the cortical gray matter (GM), abnormal gyral patterns, blurring of the grey-white matter transition, atrophy or hemispheric hypertrophy, demyelination, gliosis. We present a case of ten-year-old boy with a history of infantile spasms and developmental delay who presented to the pediatric neurology room with an episode of disinhibited behavior in family environment. An MRI was performed and isolated hemimegalencephaly with polymicrogyria of the right occipital lobe was diagnosed.

Neuroimaging in pediatric phakomatoses. An educational review.

Phakomatoses are a group of more than 30 entities with an inheritance pattern that primarily affects the central nervous system, skin, viscera and connective tissue. The aim of this paper is to make an educational review of the most common radiological findings on phakomatoses through the iconography of the cases collected in our magnetic resonance imaging (MRI) and computer tomography (CT) units over the last ten years. Also, we describe and illustrate by these techniques the main features of the most common entities within the wide spectrum of diseases.

Diagnostic use of magnetic resonance imaging (MRI) of a cervical epidural abscess and spondylodiscitis in an infant - case report.

Epidural abscess in infancy is very rare and has non-specific features, requiring very careful attention and early diagnosis. We present a case of a 3-month-old girl in which the diagnosis of spontaneous cervical epidural abscess developed after an initial episode of acute enterocolitis and was subsequently identified at a later visit to the emergency department for right-upper extremity hypotonia. Endoscopy revealed slightly domed retro pharynx and magnetic resonance imaging (MRI) scan showed cervical spondylodiscitis at the level of intervertebral disc C5-C6 with right-sided epidural abscess that compressed the spinal cord and right C6 nerve root, without extension into superior mediastinum.

Pediatric glioblastoma with giant cells and "supratentorial" primitive neuroectodermal component - case report and review of the literature.

Introduction: The glial differentiation in pediatric "supratentorial primitive neuroectodermal tumors" (sPNET) is occasionally revealed by immunohistochemistry with GFAP (glial fibrillary acidic protein) as isolated positive cells among undifferentiated cells, indicative of divergent cellular phenotypes. Large malignant glial tumors in sPNETs are extremely rare and challenge the neuropathologist by raising the possibility of glioblastomas with sPNET-like features (GB sPNET). The distinction between them is important because of their different treatment and prognostic.