Journal of Pediatric Neurology and Medicine

Purpose: To present the genetic cause of progressive deterioration in visual acuity and color vision in a child with high myopia and strabismus. Here we describe a novel x-linked mutation in the opsin 1 medium-wave-sensitive (OPN1MW) gene in a child, leading to cone rod dystrophy.

Setting/Venue: Trio whole-exome sequencing (WES).

Methods: We reviewed the clinical data and eye exams including family history since the patient's first visit 2008. Further evaluation included fundus photography, optical coherence tomography and electroretinography. The child was also referred to neurological assessment and magnetic resonance imaging was performed. Genetic evaluation included the extraction of DNA from peripheral blood leukocytes, trio WES and bioinformatics analysis using the Burrows-Wheeler Aligner (BWA) and the Genome Analysis Tool Kit (GATK) software.

Results: A normal eye examination showed that the parents and brothers were healthy. The boy had bilateral impaired vision (best visual corrected 1/24), high myopia (BE -7.0 diopter) and esotropia. On fundus exam, normal fundus appearance was reported with only mild temporal pallor of the optic discs. Retinal thickness measured by optical coherence tomography was within normal limits. Electrophysiological studies were unspecified for cone rod dystrophy based on photopic and scotopic responses. The complete neurology examination and neuroimaging were normal. WES revealed no compound heterozygosity or recessive mutations.

Conclusions: Here we described a boy with severely impaired vision, not explained by the high myopia or the strabismus, who also had a progressive course. The family history was negative. Genetic evaluation revealed a deletion of exon 5 in the OPN1MW gene. He was diagnosed with a blue cone monochromacy. This child is a representative case with the common symptoms that are sometimes under-diagnosed without genetic evaluation.

Background: An integrated analysis of five randomized, placebo-controlled studies in migraine prophylaxis was conducted to assess topiramate’s efficacy and safety in pediatric patients.

Methods: Study 1, a pivotal study (50-, 100 mg/day; aged 12-17 years), Study 2 (flexibly-dosed 2-3 mg/kg/day; aged 6-15 years), and Studies 3, 4 and 5 [50-, 100-, 200 mg/day; aged ≥ 12 years)].

Results: Percent reduction in the average monthly migraine attack rate: Study 1: the 100 mg/day group improved versus placebo (72% versus 44%, p=0.0164); Study 2: topiramate was not significantly different from placebo (58% versus 48%); Studies 3, 4 and 5: positive trend in the 100 mg/day group versus placebo (75% versus 37%). ≥ 50% reduction responder rate: Study 1 - the 100 mg/day group improved versus placebo (83% versus 45%, [p=0.0048]); no significant effect for topiramate versus placebo was seen in either Study 2 (56% versus 49%), or Studies 3, 4 and 5 (69% versus 33%). Most common treatment-emergent adverse events in topiramate group were influenza-like symptoms, language problems and paresthesia.

Conclusion: Overall, topiramate was efficacious for migraine prophylaxis in adolescent patients (12-17 years). The most consistent results were observed with topiramate 100 mg/day dose, which was generally well-tolerated.

Background: Intracranial hemorrhage is an uncommon but important cause of morbidity and mortality in term newborns of unknown incidence. Because of this, it is necessary to analyze and describe the etiological factors and symptomatology of presentation to the end of extending the knowledge that allows us to adapt the strategy and reduce diagnostic delay, as well as the development of possible neurological sequelae.

Methods: Retrospective study of term neonates diagnosed of intracranial hemorrhage in the first 28 days of life in a third level hospital between January 2008 and December 2015.

Results: Thirty one term newborns with intracranial hemorrhage were identified, with a mean age of diagnosis of 3.4 days of life. In 16/31 there was not obstetrical history of interest. Cesarean section was carried out in 13/31 and instrumental delivery in 6/31. The clinical manifestations included seizures in 10/31 and apnea in 7/31. In all cases, the first neuromaging test made was the brain ultrasound and at the time of diagnosis, 13/31 presented anemia and 3/31 thrombocytopenia. The most frequent type of intracranial hemorrhage was the intraparenchymal hemorrhage in 10/31 cases and bilateral hemispheric location was found in 14/31. In 14/31 the etiology was not identified and hypoxic-ischemic encephatologhy was the most common cause in 8/31. Only 1/31 case required urgent surgical intervention, 4/31 newborns died and up to the time of study, 5/31 have presented moderate-severe psychomotor delay and 3/31 partial symptomatic epilepsy.

Conclusion: In our series hypoxia and/or dystocia were the factors most frequently associated with the development of intracranial hemorrhage and seizures, apnea and anemia were the more common signs of presentation. Intraparenchymal hemorrhage was the most common variety and lower psychomotor delay was observed until the time of the study in relation to the literature.

Cerebral palsy (CP) is presented as the most prevalent neurodevelopmental disorder which primarily damages the posture and motor function. Nowadays, major advances in brain imaging and brain stimulation techniques have been prepared the promising status in diagnostic and interventional processes. In this review study, a brief explanation is provided about several techniques of brain stimulation to remedy the children suffered CP; the potential and performance of these techniques in restoration of damaged motor neural circuits; clinical trials ever conducted in this area; safety and tolerability of these novel therapeutic approaches for CP patients. In summary, brain stimulation in various frameworks offers new insights into a novel therapeutic approach for pediatric CP, but efficacy and safety need to be further addressed.

The multifaceted relationship between obstetrician and paediatrician is looked at within the framework of Court medico-legal action concerning neonatal brain damage, as exemplified by cerebral palsy. Antenatal and intra-partum aspects are analysed, and the potential for a preventive role in inter-disciplinary antenatal consultations advocated. It is suggested that, those instances of HIE with possible antenatal identifiable risk factors, could benefit from a combined obstetrician-paediatrician as part of antenatal management. The crucial importance of the paediatric role in optimal resuscitation, and later management is also stressed as benefitting both the neonate and limiting possible future obstetric liability. The paediatrician’s roles in establishing HIE along the ACOG–AAP 2003/2014 Classification is also evaluated. Borrowing extensively from UK Court archives, frequent reference is also made to specific Court case examples, oriented around obstetric/paediatric liability based on alleged, and at times, upheld medical malpractice.