The Croatian Model of Integrative Prospective Management of Epilepsy and Pregnancy.

Epilepsy is the most common neurological complication in pregnancy. Women with epilepsy have a higher risk of complications in pregnancy. In Croatia, women with epilepsy are treated by neurologists at tertiary centers according to the place of residence.

Transoral removal of a large parapharyngeal space neurofibroma with the Harmonic Scalpel.

We report the case of a 19-year-old man with neurofibromatosis type 1 who presented for evaluation of odynophagia, left-sided hemiparesis, multiple café au lait spots all over his body, and numerous subcutaneous and cutaneous neurofibromas. Imaging revealed the presence of two large neurofibromas-a 60 × 50 × 35-mm tumor in the left parapharyngeal space and an intradural tumor measuring 25 mm in diameter. We removed the larger tumor via a transoral route with the Harmonic Scalpel.

Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study.

Aim: To determine the prevalence, number, and location of multiple (≥2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years).

Methods: We performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009.

Results: Multiple T2-hyperintensities were present in 74% of NF1 patients and 1.

[Neurofibromatosis type 2 (central neurofibromatosis or bilateral acoustic neuromas, vestibular schwannomas): from phenotype to gene].

Neurofibromatosis type 2 (NF2) is an autosomal dominant disease that predisposes to bilateral vestibular schwannomas (neurinomas), other central and peripheral nervous system tumours (multiple meningeomas and neurofibromas) and ocular abnormalities (cataract). The NF2 tumour suppresor gene is localised on chromosome 22q12 and encodes protein called schwannomin or merlin which is related to a family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). About 50% of all cases are new germline mutations, although about 20% of apparently sporadic cases represent somatic mosaicism.

[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene].

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of any type or 1 plexiform neurofibroma, freckling in the axillary or inguinal region, optic glioma, a distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis, and a first degree relative with NF1. The disease has numerous complications.

Eye disorders in neurofibromatosis (NF1).

Neurofibromatosis type 1 (NF 1) is an autosomal dominant disorder with high index of spontaneous mutations and extremely varied and impredictible clinical manifestations. The aim of this work was to give an account of eye disorders in NF1. 132 patients of age 0-16 years with NF1 were followed up for 15 years.

[Treatment of West syndrome].

Purpose: West syndrome (WS) is one of the catastrophic epileptic syndromes in infancy characterized by a triad of infantile spasms, psychomotor deterioration and hypsarrhythmic EEG pattern. WS is commonly associated with poor long-term outcome, especially in symptomatic cases, with development of other seizure types, impaired cognitive and psychosocial functioning. The aim of our study was to evaluate the efficacy of the control of infantile spasms using synthetic ACTH or vigabatrin in newly diagnosed cases and to correlate it with the underlyning causes, outcome and adverse effects.