Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Background: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving cause KBG syndrome, but no genotype-phenotype correlation has been reported.

Methods: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire.

Has clinical activity in paediatric neurology changed in the past 11 years?

Introduction: We believe that the demand for paediatric neurology (PN) care has increased over the past decade, and that reasons for requesting consultations have also changed. The objective of this study is to complete a registry study to profile the demand for PN care in 2013 and compare results to those from a study performed in 2002.

Methods: A prospective registry of PN healthcare activities was completed at Hospital Universitario de Getafe in 2013.

[Fast and spectacular clinical response to plasmapheresis in a paediatric case of anti-NMDA encephalitis].

Introduction: Autoimmune encephalitis against N-methyl-D-aspartate (NMDA) receptors is being diagnosed more and more frequently in the paediatric age. It should be suspected in children with psychiatric symptoms, encephalopathy, abnormal movements or epileptic seizures. Paraneoplastic cases are less frequent than in adults.

Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

Familial hypocalciuric hypercalcemia is an uncommon cause of hypercalcemia that arises from mutations in the calcium-sensing receptor gene. Inactivation of this receptor leads to a decreased receptor sensitivity to calcium, determining that higher concentrations of calcium are needed to inhibit the release of parathormone in the parathyroid glands. Patients usually are asymptomatic.

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)].

Aims: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology.

Materials And Methods: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules.

[Mononeuropathy in chronic lymphatic leukaemia].

Introduction: Chronic lymphatic leukaemia (CLL) is the most frequent form of leukaemia in the adult population in western countries. Only 7.2% of the complications of CLL are neurological and most of them are secondary to an infection by herpes zoster virus.

[Migraine in childhood: a trivial condition?].

Introduction: Migraine is seen as being a trivial disease, and more so in childhood, but in many cases it has a detrimental effect on the patient's quality of life.

Patients And Methods: Prospective study. All the patients were evaluated by the same neuropaediatrician and all of them satisfied diagnostic criteria for migraine.

[Variability in the treatment of headaches in visits to the Neuropaediatrics service at six Spanish hospitals].

Introduction: Headache is one of the chief reasons for visiting Neuropaediatric units. Variability in clinical practice has been defined as variations in the rates a clinical procedure is employed. The aim of this work is to study the variability in the treatment of children's headaches in six Spanish hospitals.

[Paediatric neurology health care activity in a tertiary hospital. A study comparing it with adult neurology and non-neurological paediatrics].

Introduction: Paediatric neurology (PN) remains 'hidden' somewhere between paediatrics and neurology in almost all health care centres and this makes it difficult to allocate resources in a proper manner.

Aims: Our objective in this study was to analyse PN health care activity and compare it with adult neurology (AN) and with non-neurological paediatrics (NNP).

Material And Methods: PN health care activity registry for the year 2002.

[The present state of paediatric neurology in the Autonomous Community of Madrid: variability in the distribution of resources].

Introduction: Paediatric neurology (PN) lies halfway between neurology and paediatrics, with no official acknowledgment. It is therefore difficult to determine exactly how resources are shared out.

Aims: The aim of this study is to analyse the public resources devoted to PN in the different health care areas within the Autonomous Community of Madrid (ACM).

[A descriptive analysis of 81 patients referred to a neurology clinic for syncope].

Introduction: Syncope is a frequent medical problem which is disabling, potentially serious and difficult to treat. Although patients with syncope are often sent to Neurology clinics for investigation we have found no published report analysing this.

Objective: To analyze the aetiology of the cases of syncope referred to a Neurology Clinic and also the diagnostic usefulness of the investigations requested, particularly those of neuroimaging, electroencephalogram (EEG) and vascular studies.

Generalized spike-and-wave patterns in children: clinical correlates.

All electroencephalograms performed in our institution between 1980 and 1990 were reviewed. The clinical characteristics of children with epilepsy and generalized spike-and-wave (SW) patterns were analyzed. The SW patterns were classified according to their frequency.

[Febrile seizures: is EEG useful?].

Objective: The purpose of this study was to determine the clinical relevance of electroencephalograms (EEG) with generalized spike-wave (S-W) in pediatric patients, especially in children with febrile seizures.

Patients And Methods: One hundred and seventy pediatric patients with S-W were found from a register of 39,322 consecutive EEGs performed in an EEG laboratory dedicated to general clinical practice. Patients that only suffered febrile seizures were not considered epileptic.

[Perinatal antecedents, psychomotor retardation, learning difficulties and family history. Are they a risk factor for epilepsy?].

Objective: Epilepsy has been associated with certain circumstances such as perinatal pathology, learning difficulties, head trauma, infections of the central nervous system, febrile seizures and family history of epilepsy. The objective of our study was to analyze the association of the mentioned circumstances with epilepsy in a group of children with generalized spike-wave (S-W) in the electroencephalogram (EEG).

Patients And Methods: One hundred seventy pediatric patients with, S-W were found from a register of 39,322 consecutive EEGs.

[The prognosis of epilepsy in children with generalized spikes and wave disc charges in electroencephalographic recording].

Introduction: Epilepsy is a chronic disorder. The prognosis of one particular subtype, that of children with generalized spike and wave discharges (P-O) on the electroencephalogram (EEG), is unknown.

Objective: To determine the prognosis of children with epilepsy with P-O on EEG and the factors which affect this.

[Neurological impairment in children with HIV infection].

We retrospectively checked 53 paediatric patients suffering from infection with human immunodeficiency virus (HIV) registered in our Centre between the years 1987 and 1993, and evaluated the appearance of HIV encephalopathy. We noted important neurological signs in eleven patients (20.7%) ten of whom had HIV infection via vertical transmission and one as a result of contamination from haemoderivatives.

[Neuromuscular gait disorders in pediatric age].

Unlabelled: Alterations in gait are a frequent cause of consultation in neuropaediatric units. They have several different causes. One subgroup of special interest concerns those which have their origin in a neuromuscular disease.

[Axilla skin biopsy in the diagnosis of Lafora's disease].

Skin biopsy is the method of choice for the diagnosis of Lafora's disease. The presence of PAS (+) inclusions characteristic of Lafora's disease has been thought to be more evident in aprocrine glands of the axillary skin than in the duct cells of the eccrine glands. We describe 4 patients with Lafora's disease diagnosed by axilla skin biopsy, confirming the usefulness of this procedure.

Acute headache of recent onset and subarachnoid hemorrhage: a prospective study.

Twenty-seven patients with acute severe headache of recent onset were prospectively recruited in the Emergency Room. Mean duration of headache was 61 hours. CT scan disclosed subarachnoid bleeding in 4 patients and spinal tap revealed subarachnoid hemorrhage (SAH) in 5 patients with normal CT scan.