Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome.

Introduction: Slow-channel congenital myasthenic syndrome is an autosomal dominant inherited progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors in the neuromuscular junction. Its pathological hallmark is selective degeneration of the endplate and postsynaptic membrane due to calcium overload. Pyridostigmine should be avoided in this syndrome, being quinidine or fluoxetine the current recommended therapies.

[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria].

Introduction: The aetiology of autosomal dominant mental retardation type 1, also known as pseudo-Angelman, MBD5-associated neurodevelopmental disorder or MBD5 haploinsufficiency, lies in a microdeletion of chromosome 2q23.1 or in a specific alteration of the MBD5 gene, which constitutes the minimum region affected in the aforementioned microdeletion.

Aim: To report the case of a girl with a heterozygous de novo mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria.

[Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case].

Introduction: Hypomyelinating leukodystrophy-6 is a rare and early onset neurodegenerative disease which entails a clinical pattern of pyramidal-extrapyramidal and cerebellar involvement and it comes with a neuroimaging consisting of hypomielination, cerebellar hypoplasia and specific abnormalities in basal ganglia, particularly the absence or nearly absence of putamen and the possible loss of caudate's volume. It is due to an alteration in tubulin and it is determined by mutations in heterocygosis in TUBB4A gene, showing complete penetrance.

Case Report: An 8-year-old child with history of delayed motor development, tremor, dysathria, ataxia, nystagmus, cognitive deficit and dystonia with pattern of hypomielination, vermis hypoplasia and absence of putamen.

[A study of primary school teachers' knowledge of attention deficit hyperactivity disorder].

Introduction: The high prevalence of attention deficit hyperactivity disorder (ADHD), with at least one pupil per classroom, poses a challenge for all the professionals in contact with them, especially for teachers.

Aim: To examine how much primary school teachers know about ADHD in three areas (general information, symptoms and diagnosis, and treatment).

Subjects And Methods: 125 primary school teachers from different communities answered the Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS).

[Functional hemispherectomy: long-term follow-up in a series of five patients].

Introduction: Functional hemispherectomy consists in palliative epilepsy surgical procedure usually performed in patients with pharmaco-resistant epilepsy and hemispheric syndromes. It is based on the neural disconnection of the affected hemisphere with preservation of the vascular supply.

Aim: To analyze long-term prognosis and safety of the hemispherectomies performed in our institution.

[Current state of the attention deficit hyperactivity disorder approach in neuropediatrics].

Aim: To know the current state of the approach of attention deficit hyperactivity disorder (ADHD) in neuropediatricians.

Subjects And Methods: A telematic survey was carried out to collect preliminary information on the interest, difficulties in the management and treatment of ADHD to the 437 fellowship of the Neuropediactric Spanish Society (SENEP).

Results: Only 32.

[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].

Introduction: Aicardi-Goutieres syndrome is a rare progressive subacute encephalopathy of early onset - generally in the first year of life - characterised by psychomotor retardation, microcephaly, alterations in the white matter of the brain, intracranial calcifications, pleocytosis and elevated levels of interferon alpha in the cerebrospinal fluid. It is associated to an increase in the expression of genes stimulated by interferon in peripheral blood, a fact known as the interferon signature. The levels of genes stimulated by interferon has been postulated as a good biomarker, as they remain high in peripheral blood over time and are more sensitive, in comparison to determinations of interferon alpha and neopterins in cerebrospinal fluid, which descend as of one year of life.

[Retrospective analysis of the effect of a vagus nerve stimulator implanted in paediatric patients with refractory epilepsy].

Introduction: The vagus nerve stimulator is a therapeutic alternative in patients with epilepsy which is refractory to treatment with antiepileptic drugs that are not candidates for surgical resection.

Aim: To analyse the effectiveness of vagus nerve stimulator in the paediatric patients of our centre.

Patients And Methods: Set of 13 patients implanted between 2008 y 2013.

[Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].

Introduction: The 3q29 microdeletion and microduplication syndromes are characterised by a marked phenotypic heterogeneity, and delayed development and a mild-moderate degree of intellectual disability are the most frequent clinical manifestations.

Case Reports: Two patients with reciprocal chromosomal aberrations in the 3q29 region. The patient with 3q29 microdeletion presented learning disabilities, borderline microcephaly, mild facial dysmorphism, attentional deficit and impulsiveness, and anxious and obsessive traits.

[Motor disorders in neurodevelopmental disorders. Tics and stereotypies].

Tics are repetitive, sharp, rapid, non-rhythmic movements or utterances that are the result of sudden, abrupt and involuntary muscular contractions. Stereotypies are repetitive, apparently impulsive, rhythmic, purposeless movements that follow an individual repertoire that is specific to each individual and that occur under a variable time pattern, which may be either transient or persistent. Both are included in the Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5), among the neurodevelopmental disorders, and together with coordination development disorder go to make up the group of motor disorders.

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.

The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene.