[Abusive head trauma. A review of our experience]. / Traumatismo craneal por maltrato. Revisión de nuestra experiencia.

INTRODUCTION: Abusive head trauma (AHT) is defined as an injury to the skull or intracranial contents due to inflicted blunt impact and/or shaking. It is characterized by the triad: encephalopathy, retinal haemorrhages and subdural hematoma. The main objective is to know the epidemiological, clinical and radiological characteristics; as well as the short and long term outcomes of patients diagnosed with AHT. PATIENTS AND METHODS: It is a descriptive, observational and retrospective study of the 19 patients diagnosed with AHT at a tertiary hospital from 1990 to 2018, both included. RESULTS: The mean age of the patients was 5,5 months with parity between both sexes. The principal medical histories reported were: absence of trauma (n = 9), history of a short fall (n = 6) and shaking (n = 4). The most frequent initial presentation was severe, and seizures was the main symptom (n = 8). Retinal haemorrhages were present in fifteen patients and subdural hematoma or hygroma in fifteen patients. Two patients died, seven presented short-term outcomes, and ten of the twelve patients who were performed a follow-up presented long-term outcomes. These outcomes were manifested as cognitive or behavioural disorders (n = 5) or as neurological disorders (n = 6). CONCLUSIONS: The epidemiological, clinical and radiological characteristics found are very similar to those reported in the literature. The prevalence of outcomes is high and they appear as cognitive or behavioural disorders.

TITLE: Traumatismo craneal por maltrato. Revisión de nuestra experiencia.Introducción. El traumatismo craneal por maltrato (TCM) se define como todo traumatismo que ocasiona lesiones intracraneales debido a un impacto directo infligido y/o zarandeo, y se caracteriza por la tríada de encefalopatía, hemorragias retinianas y hematoma subdural. El objetivo de este estudio es conocer las características epidemiológicas, clínicas y radiológicas, así como las secuelas de los pacientes diagnosticados de TCM. Pacientes y métodos. Estudio descriptivo observacional retrospectivo de los 19 pacientes diagnosticados de TCM en un hospital terciario entre 1990 y 2018, ambos inclusive. Resultados. La edad media de los afectados fue de 5,5 meses y existe paridad entre ambos sexos. Las anamnesis aportadas por los cuidadores fueron: ausencia de traumatismo (n = 9), antecedente de caída (n = 6) y zarandeo (n = 4). La clínica inicial más prevalente fueron los síntomas graves, y las convulsiones fueron el síntoma más frecuente (n = 8). Quince pacientes presentaron hemorragias retinianas y otros 15, hematoma subdural o higroma. Dos pacientes fallecieron, siete presentaron secuelas en el alta y 10 de los 12 pacientes en los que se realizó seguimiento presentaron secuelas tardías manifestadas como secuelas cognitivas/comportamiento (n = 5) o como secuelas neurológicas (n = 6). Conclusiones. Las características epidemiológicas, clínicas y radiológicas son muy similares a las publicadas en la bibliografía. La presencia de secuelas es prevalente y éstas se manifiestan tanto como problemas cognitivos y de comportamiento como por secuelas neurológicas.

Point-of-care ultrasound after attempted suicidal hanging.

Focused cardiac ultrasound (FoCUS) can provide critical information quickly to determine the etiology after cardiac arrest and may expedite a diagnosis in order to identify underlying treatable causes. We present a case of reversible acute left ventricular dysfunction after cardiopulmonary resuscitation following attempted suicide by hanging presenting with severe hypoxemia. FoCUS revealed findings consistent with severe left ventricular dysfunction, and point-of-care ultrasound (PoCUS) ruled out pneumothorax. These findings, in conjunction with the clinical presentation, facilitated an early identification and rapid evaluation of cardiogenic shock; furthermore, they led to the use of FoCUS, which can provide critical information quickly on site for a patient who is suddenly symptomatic after severe mechanical asphyxia in the pediatric emergency department, pediatric intensive care unit, or the prehospital setting.

Optic neuritis in paediatric patients: Experience over 27 years and a management protocol. / Neuritis óptica en pediatría: experiencia en 27 años y protocolo de actuación.

INTRODUCTION AND OBJECTIVE: In this article, we present our experience on optic neuritis (ON) and provide a diagnostic/therapeutic protocol, intended to rule out other aetiologies (particularly infection), and a fact sheet for parents. MATERIAL AND METHODS: We conducted a descriptive, retrospective study of patients with ON over a 27-year period (1990-2017). A review of the available scientific evidence was performed in order to draft the protocol and fact sheet. RESULTS: Our neuropaediatrics department has assessed 20,744 patients in the last 27 years, of whom 14 were diagnosed with ON: 8 had isolated ON, 1 had multiple sclerosis (MS), 1 had clinically isolated syndrome (CIS), 3 had acute disseminated encephalomyelitis, and 1 had isolated ON and a history of acute disseminated encephalomyelitis one year previously. Patients' age range was 4-13 years; 50% were boys. Eight patients were aged over 10: 7 had isolated ON and 1 had MS. Nine patients had bilateral ON, and 3 had retrobulbar ON. MRI results were normal in 7 patients and showed involvement of the optic nerve only in 2 patients and optic nerve involvement + central nervous system demyelination in 5. Thirteen patients received corticosteroids. One patient had been vaccinated against meningococcus-C the previous month. Progression was favourable, except in the patient with MS. A management protocol and fact sheet are provided. CONCLUSIONS: ON usually has a favourable clinical course. In children aged older than 10 years with risk factors for MS or optic neuromyelitis (hyperintensity on brain MRI, oligoclonal bands, anti-NMO antibody positivity, ON recurrence), the initiation of immunomodulatory treatment should be agreed with the neurology department. The protocol is useful for diagnostic decision-making, follow-up, and treatment of this rare disease with potentially major repercussions. The use of protocols and fact sheets is important.

Functional assessment of a series of paediatric patients receiving neurointensive treatment: New Functional status scale. / Valoración funcional tras tratamiento neurointensivo pediátrico. Nueva escala de estado funcional (FSS).

INTRODUCTION: Functional health, a reliable parameter of the impact of disease, should be used systematically to assess prognosis in paediatric intensive care units (PICU). Developing scales for the assessment of functional health is therefore essential. The Paediatric Overall and Cerebral Performance Category (POPC, PCPC) scales have traditionally been used in paediatric studies. The new Functional Status Scale (FSS) was designed to provide more objective results. This study aims to confirm the validity of the FSS compared to the classic POPC and PCPC scales, and to evaluate whether it may also be superior to the latter in assessing of neurological function. PATIENTS AND METHOD: We conducted a retrospective descriptive study of 266 children with neurological diseases admitted to intensive care between 2012 and 2014. Functional health at discharge and at one year after discharge was evaluated using the PCPC and POPC scales and the new FSS. RESULTS: Global FSS scores were found to be well correlated with all POPC scores (P<.001), except in category 5 (coma/vegetative state). Global FSS score dispersion increases with POPC category. The neurological versions of both scales show a similar correlation. DISCUSSION: Comparison with classic POPC and PCPC categories suggests that the new FSS scale is a useful method for evaluating functional health in our setting. The dispersion of FSS values underlines the poor accuracy of POPC-PCPC compared to the new FSS scale, which is more disaggregated and objective.

Functional progression of patients with neurological diseases in a tertiary paediatric intensive care unit: Our experience. / Patología neurológica en una unidad de cuidados intensivos pediátricos de tercer nivel. Evolución funcional. Nuestra experiencia.

INTRODUCTION: Neurological diseases explain a considerable proportion of admissions to paediatric intensive care units (PICU), and are a significant cause of morbidity and mortality. This study aims to analyse the functional progression of children with critical neurological conditions. MATERIAL AND METHODS: Retrospective descriptive study of children admitted to PICU with neurological diseases over a period of 3 years (2012-2014), assessing vital and functional prognosis at PICU discharge and at one year according to the Pediatric Cerebral and Overall Performance Category scales (PCPC-POPC) and the Functional Status Scale (FSS). The results are compared with our previous data (1990-1999), and those of the international multicentre PANGEA study. RESULTS: A total of 266 children were studied. The mortality rate was 3%; the PRISM-III and PIM2 models did not show predictive ability. Clinically significant worsening was observed in functional health at discharge in 30% of the sample, according to POPC, 15% according to PCPC, and 5% according to FSS. After one year, functional performance improved according to PCPC-POPC, but not according to FSS. Children with no underlying neurological disease had a higher degree of functional impairment; this was prolonged over time. We observed a decrease in overall and neurocritical mortality compared with our previous data (5.60 vs. 2.1%, P=.0003, and 8.44 vs. 2.63%, P=.0014, respectively). Compared with the PANGEA study, both mortality and cerebral functional impairment in neurocritical children were lower in our study (1.05 vs. 13.32%, P<.0001, and 10.47% vs. 23.79%, P<.0001, respectively). CONCLUSIONS: Nearly one-third of critically ill children have neurological diseases. A significant percentage, mainly children without underlying neurological diseases, had a clinically significant functional impact at PICU discharge and after a year. Neuromonitoring and neuroprotection measures and the evaluation of functional progression are necessary to improve critical child care.

Acute cerebellitis in paediatric patients: Our experience. / Cerebelitis aguda en Pediatría: nuestra experiencia.

INTRODUCTION: Acute cerebellitis is a rare inflammatory disease with a highly variable clinical course that ranges from benign self-limiting symptoms to a fulminant presentation associated with a high risk of death due to compression of the posterior fossa, acute hydrocephalus, and intracranial hypertension. METHODS: We reviewed clinical, laboratory, and radiological findings from children diagnosed with acute cerebellitis between May 2007 and November 2016. We analysed treatments and clinical and radiological progression. RESULTS: Nine children met the diagnostic criteria for cerebellitis. Headache, vomiting, and drowsiness were the most frequent initial symptoms; ataxia, dysarthria, and dysmetria were the most common cerebellar signs. Cerebellitis was diagnosed with magnetic resonance imaging, which revealed cerebellar involvement (unilateral or bilateral); computerised tomography images either were normal or showed indirect signs such as triventricular hydrocephalus due to extrinsic compression of the aqueduct of Sylvius. Corticosteroids were the most commonly used treatment (6 patients). One patient required surgery due to triventricular hydrocephalus. Eight patients recovered completely, whereas the ninth displayed neurological sequelae. CONCLUSIONS: Cerebellitis is a medical and surgical emergency; diagnosis requires a high level of suspicion and an emergency brain magnetic resonance imaging study. It is a clinical-radiological syndrome characterised by acute or subacute encephalopathy with intracranial hypertension and cerebellar syndrome associated with T2-weighted and FLAIR hyperintensities in the cerebellar cortex (unilaterally or bilaterally) and possible triventricular dilatation. Treatment is based on high-dose corticosteroids and may require external ventricular drain placement and decompressive surgery.

Phenotype in patients with intellectual disability and pathological results in array CGH. / Fenotipo en pacientes con discapacidad intelectual y array-CGH patológico.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. METHODS: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. RESULTS: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). CONCLUSIONS: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.

[Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation]. / Osteopetrosis autosómica dominante: a propósito de 3 casos y una mutación.

Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to increased bone mineral density and bone sclerosis. It can be classified into different groups according to their clinical and their genetic characteristics: autosomal recessive with several subtypes (OPTB) or autosomal dominant type 1 or 2 (OPTA1-2). There is a wide clinical variability of the disease, from asymptomatic to lethal in the first months of life, with variable expressivity in the family members. Diagnosis is mainly clinical with genetic confirmation of the OP, and treatment is symptomatic. Three cases of OP are presented, with the discovery of a new gene mutation in LRP5 which caused OPTA1 in one of them.

[Benign intracranial hypertension: experience over 18 years]. / Hipertensión intracraneal benigna. Experiencia en 18 años.

INTRODUCTION: There are transient intracranial hypertension cases, recognizable by bulging fontanelle in infants and by papilloedema in children. We present our experience in benign intracranial hypertension (BIH) cases, excluding traumatic brain injuries, encephalitis and meningitis. RESULTS: Among the entire neuropaediatric database, with 10,720 children in 18 years, 31 cases had the diagnosis of BIH. Sixteen aged between 2.3 and 8.9 months (75% males), all of them with transient bulging fontanelle, and 15 aged between 4.4 and 13.7 years (73.3% females), all of them with papilloedema which was subsequently resolved. A total of 75% of infants had recently finished corticosteroid treatment for bronchitis. In the older children, there was 1 case associated with excessive vitamin A intake and 1 mastoiditis. Transfontanelle ultrasonography or CT was performed on all infants and CT or MRI in every child. Lumbar puncture was also performed on 7 infants and on 13 children. Infants developed favourably in a few days, and children did so between 1 week and 5 months, some with treatment. DISCUSSION: BIH usually has a favourable outcome, although it may take longer in children than in infants, but it can have serious visual repercussions, even blindness, so ophthalmological control is necessary. It is normally diagnosed by exclusion of other intracranial hypertension causes. MRI and lumbar puncture must be done on all children or infants who do not progress favourably. Acetazolamide and furosemide, corticosteroids, repeated lumbar punctures and optic nerve sheath fenestration should be considered in those who do not progress well.

[Neurological newborn in our center and follow-up]. / El recién nacido neurológico en nuestro medio y su seguimiento.

INTRODUCTION: The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering from them; a prolonged follow-up and the joint efforts of neonatologists and neuropaediatricians are therefore essential. DEVELOPMENT: We review the welfare work and demand for health care for newborn infants with neurological disorders in our service, as well as perinatal neurological morbidity, the functioning of the follow-up outpatients department, and we also report some of the findings from our experience in following up high-risk newborn infants. CONCLUSIONS: The demand for neonatal health care is increasing, and it is important to take this into account so as to be able to plan better strategies for the use of health care resources and for caring for patients. In our population, preterm delivery and asphyxia are the chief perinatal factors leaving neurological sequelae, with an overall incidence that is similar to that reported in other research and a high proportion of severe sequelae. The follow-up programmes must be made cost-effective by better selection of the high risk population to be monitored and coordination with primary care paediatricians. Early detection of the deficits is essential to be able to implement early intervention, and this can be aided by a series of recommendations aimed at professionals and relatives, as well as by improved coordination between the different multidisciplinary groups involved in prevention and care programmes.