[Voluminous plexiform neurofibromas of the neck region in neurofibromatosis 1].

AIM. To present the clinic, imaging and evolutive characteristics of a series of patients with neurofibromatosis 1 with voluminous plexiform neurofibromas in the neck (VPNFN) during childhood. PATIENTS AND METHODS.

[Corpus callosum tumor as the presenting symptom of neurofibromatosis type 1 in a patient and literature review].

Introduction: Neurofibromatosis type 1 (NF1) is one of the most frequent neurocutaneous syndromes. NF1 can be associated with intracranial tumors in any location, but only rarely in the corpus callosum.

Aims: To describe a case of NF1 presenting as a tumor of the corpus callosum and to carry out a review of the incidence of the tumors of corpus callosum in our series and in the literature.

Neurofibromatosis type 1 (NF1) associated with tumor of the corpus callosum.

Introduction: Neurofibromatosis type 1 (NF1), one of the most common neurocutaneous disorders, is a multisystemic disease associated with tumors in any organ of the body, especially in the central nervous system and also the peripheral nervous system. Pilocytic astrocytomas have been described in almost all intracranial regions in patients with NF1. However, only a few patients with NF1 and tumor of the corpus callosum have been reported to date.

Bilateral spinal neurofibromas in patients with neurofibromatosis 1.

Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome that can be inherited as autosomal dominant or may appear due to a de novo mutation. We present 8 patients (5 M and 3 F) with sporadic or non-familial spinal neurofibromatosis 1 (non-FSNF1) associated with bilateral spinal neurofibromas involving all of the paraspinal nerves. To our knowledge, this is the first series of such association described in the literature.

Treating spastic equinus foot from cerebral palsy with botulinum toxin type A: what factors influence the results?: an analysis of 189 consecutive cases.

Objective: The aim of this study was to determine the variables that improve spastic equinus foot caused by cerebral palsy when treated with botulinum toxin type A.

Design: We reviewed all patients treated for spastic equinus foot using botulinum toxin type A (Botox) in the triceps suralis during a 3 1/2-yr period and analyzed the results after the first injection. There were 117 patients (72 diplegic and 45 hemiplegic patients) and a total of 189 triceps suralis treated.

Neurosurgical treatment of tuberous sclerosis complex lesions.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited syndrome. Renal disease is the main cause of death. Brain disorders are the origin of more frequent and severe problems, such as tumors, epilepsy, and mental retardation.

Pascual-Castroviejo type II syndrome (P-CIIS). Importance of the presence of persistent embryonic arteries.

Introduction: Cutaneous hemangioma and vascular malformation are two vascular abnormalities frequently associated with absence or hypoplasia of one or both carotid and/or vertebral arteries, presence of persistent embryonic arteries, especially the trigeminal, cerebellar malformations, and coarctation of the aortic arch and/or congenital cardiopathy. This disease is known as Pascual-Castroviejo type II syndrome (P-CIIS) and by the acronym PHACE.

Material And Methods: Three patients (two females and one male) with facial hemangioma are studied during the first years of age by magnetic resonance angiography (MRA) and their vascular evolution to adult age followed through several MRA controls.

[Spontaneous involution of frontal tumors in a patient with neurofibromatosis type 1].

Aim: To present a patient with neurofibromatosis type 1 (NF1) who had cerebral tumors (in a non-optic pathway location) that regressed spontaneously.

Case Report: A girl with NF1 and cerebral tumors, probably astrocytomas, with similar neuroimaging characteristics, was studied by magnetic resonance (MR) and MR spectroscopy between 29 months and 6- years of age. The frontal tumors (one on each hemisphere) did not change size in the MR studies done during the first three and a half years of life, but, at six years, the right frontal lobe tumor had apparently disappeared and the left frontal lobe tumor had decreased in a 90% of its original size.

Posterior fossa tumors in children with neurofibromatosis type 1 (NF1).

Background: Tumours of the posterior fossa associated with neurofibromatosis type 1 (NF1) are very infrequent. Series studying this association are seldom reported.

Personal Experience: In a series of 600 NF1 patients studied during 39 years (1965-2004) only five (0.

[Cerebral hemisphere tumours in neurofibromatosis type 1 during childhood].

Aim: To present seven tumors of the cerebral hemispheres in 6 children with neurofibromatosis type 1 (NF1).

Patients And Methods: Six patients (three males and three females) of 600 cases of a series with NF1 showed features of cerebral hemispheres tumor (seizures, headache and hemiparesis). They were studied neurologically, by EEG and by image (MR and/or spectroscopic-MR) because of these features or simply because having NF1.

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

L-2-Hydroxyglutaric aciduria (L2HGA) is a rare, neurometabolic disorder with an autosomal recessive mode of inheritance. Affected individuals only have neurological manifestations, including psychomotor retardation, cerebellar ataxia, and more variably macrocephaly, or epilepsy. The diagnosis of L2HGA can be made based on magnetic resonance imaging (MRI), biochemical analysis, and mutational analysis of L2HGDH.

Major and minor arterial malformations in patients with cutaneous vascular abnormalities.

The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neurocutaneous syndrome, 20 had the origin of both anterior cerebral arteries from the same internal carotid artery.

Safety of botulinum toxin type A in children younger than 2 years.

Background: Botulinum toxin type A (BoNT-A) has been used in many indications and is licensed for the treatment of spasticity in children older than 2 years. However, there are few reports of BoNT-A treatment in patients younger than 2 years of age.

Aims: To review retrospectively the safety data from all infants treated with botulinum toxin type A (BoNT-A) before 2 years of age in a paediatric neurology unit.

Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients.

Genitourinary neurofibromas with clitoral involvement in neurofibromatosis type 1 are rare, and even more infrequent are the neurofibromas involving genitalia in males. The most frequent presenting sign of neurofibroma in females is clitoromegaly with pseudopenis, and enlarged penis is the most common sign in males. Labium majus neurofibroma not associated with clitoral involvement is extremely rare.

Sturge-Weber syndrome: study of 55 patients.

Purpose: To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period.

Methods: Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed.

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3.

MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a progressive cerebral white matter disease with onset in childhood, caused by mutations in the MLC1 gene. MLC1 is a protein with unknown function that is mainly expressed in the brain in astrocytic endfeet at the blood-brain and cerebrospinal fluid-brain barriers. It shares its localization at astrocytic endfeet with the dystrophin-associated glycoprotein complex (DGC).

Diplegia due to transcranial knife-blade injury in a 20-month-old child.

Transcranial stab wounds are uncommon among both adults and adolescents and rarely occur in children, particularly when caused by another child. A 20-month-old girl was injured by a 3-year-old cousin, who introduced a knife blade into the brain through the left parietal region. The trajectory of the wound penetrated at least 5 cm, crossed the falx cerebri, and involved both motor cortical areas.

Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.

The 2001 classification subcommittee of the International League Against Epilepsy (ILAE) proposed to 'group JME, juvenile absence epilepsy, and epilepsy with tonic clonic seizures only under the sole heading of idiopathic generalized epilepsies (IGE) with variable phenotype'. The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phenotype of family members and that it should no longer be classified by itself or considered a distinct disease entity. Although recognized as a common form of epilepsy and presumed to be a lifelong trait, a long-term follow-up of JME has not been performed.

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Objective: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown.

Seizures of idiopathic generalized epilepsies.

Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database.