PURPOSE Ehlers-Danlos syndrome (EDS) is a complex hereditary connective tissue disorder infrequently reported in association with epilepsy. Seven patients with ages ranging from 28 to 70 years with EDS and epilepsy are described. METHODS Case review of clinical and diagnostic data. RESULTS Two patients had occipital horn syndrome (EDS type IX) and partial seizures of probable supplementary ...

Encephalocele, midline defect of cranial bone fusion, occurs most frequently in the occipital region. Airway management in pediatric patients poses many challenges to the anesthesiologist. The purpose of this study is to describe the airway problems encountered for such cases, how these problems were managed and also to bring into light a rare encountered unreported problem of perioperative ref...

MR imaging was performed on a 2-year-old girl whose history included low Apgar score, hypotonicity, and myoclonic seizures at birth . Her psychomotor and growth development were retarded. She had mild microcephaly and was hypotonic. Electroencephalography showed generalized epileptogenic activity. MR imaging was performed on a 0.5-T scanner. T1-weighted images, SE 500/30, performed in the axial...

BACKGROUND--Patients with seizures may have abnormal brain imaging. Lesions demonstrated on computerized tomography or magnetic resonance imaging often suggest the underlying cause of the seizures, and may prompt an invasive investigation for diagnosis and treatment. In an increasingly recognized subset of patients however, the imaged lesions spontaneously resolve. While poorly understood, thes...

Case presentation: M. V. S. R, female, 10 months, post-term, Apgar 6/8, requiring resuscitation at birth, was referred to a pediatric neurologist due delay in neuropsychomotor development, with difficulty fixing the gaze since hypotonia of lower limbs, repetitive movements, lack cervical support and ankyloglossia. The patient also previously suffered two episodes tonic-clonic seizures. On physi...

Nephrotic syndrome is a kidney disease with proteinuria, hypoalbuminemia, and edema. One rare, potentially life-threatening complication of nephrotic posterior reversible encephalopathy (PRES). Sudden episodes neurological symptoms such as headache, confusion, seizures, or focal deficits radiological findings white matter abnormalities in the parietal occipital lobes characterize it. Multiple f...

Human posttraumatic epilepsy (PTE) is highly heterogeneous, ranging from mild remitting to progressive disabling forms. PTE results in simple partial, complex partial, and secondarily generalized seizures with a wide spectrum of durations and semiologies. PTE variability is thought to depend on the heterogeneity of head injury and patient's age, gender, and genetic background. To better underst...

Aim: The GRIN2D gene mutation causes severe forms of epileptic encephalopathy. NMDAR antagonists and magnesium sulfate could be useful as adjunctive therapy to control seizures in individuals with aim this study was describe the clinical features treatment options encephalopathy.Methods: Patients followed up encephalopathy our pediatric neurology clinic were investigated for genetic etiology us...