ABSTRACT Seizure disorders are the most common neurological illnesses in infants and children. Presented is an 8 year old boy with nocturnal vomiting episodes, found to have EEG characteristics of early onset benign occipital epilepsy, better known as Panayiotopoulos syndrome.

2007 ABADIE V. Phenylketonuria, from neonatal screening to adulthood. Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous conditi...

A 30‐year‐old man presented with progressive blurred vision and cosmetic facial problems within 2 years ago. Neurological examination demonstrated impaired visual acuity and constricted visual field associated with both forehead and right side craniofacial deformity in the general examination. The craniofacial computed tomography (CT) scan showed expansion and thickening in right mandible, ante...

OBJECTIVE To evaluate the feasibility of ultrasound guided atlanto-occipital joint injection. METHOD Six atlanto-occipital joints of three cadavers were examined. Cadavers were placed in prone position with their head slightly rotated towards the contra-lateral side. The atlanto-occipital joint was initially identified with a longitudinal ultrasound scan at the midline between occipital protu...

The morphological variation of the sulci of the occipital region of the human brain was examined in both the left and the right hemispheres in 40 normal adult human brains on magnetic resonance images. We identified the occipital sulci and marked their corresponding gray matter voxels on the magnetic resonance images, which had been transformed into the Montreal Neurological Institute standard ...

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...

OBJECTIVE To assess pulmonary function and the prevalence of atopy in school-age children who were very low birth weight as infants and to compare those who had bronchopulmonary dysplasia to those who did not. METHOD We studied 85 (39 male and 46 female) at a mean age of 84 (range, 62 to 107) months who were very low birth weight infants. Bronchopulmonary dysplasia was defined as oxygen depen...

717 ibrous dysplasia is a developmental anomaly that can affect any bone in the body. The skull and facial bones are the affected sites in 10–25% of patients with monostotic fibrous dysplasia and in 50% of patients with polyostotic fibrous dysplasia. Conventional radiographic findings reveal characteristics of fibrous dysplasia. CT findings also show characteristics of fibrous dysplasia and con...