Startle Seizures and Diffuse Leukoencephalopathy After Resolution of Herpes Simplex Virus 1 Encephalitis in a Child.

We describe a unique clinical presentation of a child after the acute phase of herpes simplex virus 1 (HSV1) encephalitis. A 17-month-old boy first presented with HSV1 encephalitis and was promptly treated with antiviral medication. Seven months later, he was re-admitted for startle seizures.

Human Leukocyte Antigen Gene Testing and Carbamazepine-Induced Toxic Epidermal Necrolysis: A Study of Pediatric Practice.

Background: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening drug-induced dermatologic conditions. SJS/TEN occurs in 1-10 per 10 000 patients taking carbamazepine (CBZ) (Pratt VM, McLeod HL, Rubinstein WS et al. National Center for Biotechnology Information US; 2018: 1-527).

Healthcare professionals' perspective on the delivery of care to children with Acquired Brain Injury (ABI) and communication with their parents.

Purpose: The purpose of this study was to understand healthcare providers' perspective and responsivity to families' needs in rehabilitative care delivery for children with Acquired Brain Injury (ABI).

Methods: Three focus group sessions were conducted to explore and understand multidisciplinary healthcare professionals' (Hcps) perspectives about the care they deliver to parents of children with ABI. Convenience sampling was used to recruit healthcare providers (total sample size = 15) from a large rehabiliation centre of an urban setting in western Canada.

Clinical clues for autoimmunity and neuroinflammation in patients with autistic regression.

Aim: Autistic regression is a unique variant within the autism spectrum disorders (ASDs), with recent reports raising the possibility of immune aetiology. This study explores clinical clues for an association between autistic regression and autoimmunity.

Method: Single-centre charts of children diagnosed with ASD in 2014 were reviewed.

After a child's acquired brain injury (ABI): An ethnographic study of being a parent.

Purpose: To explore the meanings associated with being a parent of a child with an aquired brain injury (ABI).

Methods: An ethnographic study was conducted with parents of children aged 3 to 10 years who had acquired a severe brain injury. Purposeful sampling was used to recruit parents from the Glenrose Rehabilitation Hospital in Edmonton, Alberta.

Novel Method for Neuronal Nanosurgical Connection.

Neuronal injury may cause an irreversible damage to cellular, organ and organism function. While preventing neural injury is ideal, it is not always possible. There are multiple etiologies for neuronal injury including trauma, infection, inflammation, immune mediated disorders, toxins and hereditary conditions.

Decreased Levels of Nasal Nitric Oxide in Children With Midline Neuroanatomical Anomalies: A Possible Connection Between Ciliary Dysfunction and Isolated Nervous System Defects.

Objectives: Given the involvement of cilia in midline neurodevelopment, we set to determine whether children with midline neuroanatomical defects have increased prevalence of ciliary dysfunction, using nasal nitric oxide measurement, a screening test for primary ciliary dyskinesia.

Study Design: We measured the nasal nitric oxide levels of 26 children ages 6-17, with congenital midline central nervous system defects, who are otherwise healthy. We evaluated the effect of variables including: age, gender, and anomaly (brain, spinal cord, or combined) on our measurements.

The impact of pediatric traumatic brain injury (TBI) on family functioning: a systematic review.

Purpose: To explore the impact moderate to severe traumatic brain injury (TBI) in a child has on family functioning.

Methods: The search was conducted using 9 bibliographic databases for articles published between 1980 and 2013. Two reviewers independently screened for inclusion and assessed study quality.

Social communication features in children following moderate to severe acquired brain injury: a cross-sectional pilot study.

We compared the social communication deficits of children with moderate to severe acquired brain injury or autism spectrum disorder, while accounting for the role of attention-deficit hyperactivity disorder (ADHD) symptoms. Parents of 20 children aged 6 to 10 years (10 acquired brain injury; 10 autism spectrum disorder) completed the Social Communication Questionnaire, and Conners 3 Parent Short. A multivariate analysis of covariance revealed significant differences between groups in Social Communication Questionnaire restricted repetitive behavior scores, but not reciprocal social interaction or social communication.

Femtosecond laser-induced cell-cell surgical attachment.

Background And Objective: Laser-induced cell-cell surgical attachment using femtosecond laser pulses is reported.

Study Design/materials And Methods: We have demonstrated the ability to attach single cells using sub-10 femtosecond laser pulses, with 800 nm central wavelength delivered from a Ti:Sapphire laser. To check that the cells did not go through a cell-fusion process, a fluorescent dye Calcein AM was used to verify that the fluorescent dye did not migrate from a dyed cell to a non-dyed cell.

Global developmental delay, progressive relapsing-remitting parkinsonism, and spinal syrinx in a child with SOX6 mutation.

SOX6, a member of the SOX gene family, plays a key role in the development of several mammalian tissues and organs, including the central nervous system. Specifically, this gene modulates the differentiation and proliferation of interneurons in the medial ganglionic eminence, as well as oligodendrocytes in the spinal cord. We describe the case of a 4-year-old girl with global developmental delay and a spinal cord syrinx who presented with recurrent episodes of parkinsonian symptoms subsequent to febrile illnesses.

Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis: an unusual cause of autistic regression in a toddler.

Anti N-methyl-d-aspartate (NMDA) receptor encephalitis in children is associated with psychiatric changes, seizures, and dyskinesias. We present the first report of autistic regression in a toddler caused by this entity. A 33-month-old boy presented with decreased appetite, irritability, and insomnia following an upper respiratory tract infection.

Basal Ganglia Injury With Extrapyramidal Presentation: A Complication of Meningococcal Meningitis.

Basal ganglia injury, accompanied by extrapyramidal signs, has been described in the setting of chronic tuberculous meningitis; however, such injury rarely occurs in acute bacterial meningitis and has never been reported with meningococcal meningitis. We report the case of a boy who developed tongue bradykinesia and dysarthria 1 week following presentation with meningococcal meningitis. Magnetic resonance imaging revealed bilateral basal ganglia lesions, suspected to result from cytotoxic edema secondary to infection.

Using the test of variables of attention to determine the effectiveness of modafinil in children with attention-deficit hyperactivity disorder (ADHD): a prospective methylphenidate-controlled trial.

The efficacy of modafinil in comparison with methylphenidate in treatment of pediatric attention-deficit hyperactivity disorder (ADHD) has not been thoroughly investigated. This study compared the effect of modafinil versus methylphenidate on continuous attention task in children with ADHD, using the Test of Variables of Attention. Twenty-eight participants completed a baseline test followed by administration of a single dose of either methylphenidate or modafinil, after which the test was repeated.

Is the test of variables of attention reliable for the diagnosis of attention-deficit hyperactivity disorder (ADHD)?

The diagnosis of attention-deficit hyperactivity disorder (ADHD) is occasionally biased by the subjectivity of symptoms and reports of parents and teachers. The advent of continuous performance tests raised expectations that the diagnosis of ADHD will be more standardized and accurate. In this study, the authors looked for the validity of the ADHD scores obtained by the Test of Variables of Attention in 230 children who were referred to their ADHD clinic between 2005 and 2007.

Three cases of cerebellar hypoplasia and vitamin a deficiency: a case report and a possible pathophysiology.

Studies in animal models have established that intra-uterine vitamin A deficiency can hinder hindbrain formation; however, reports of such a phenomenon in humans had not been published until recently, when our group presented the case of an infant diagnosed with pontocerebellar hypoplasia and vitamin A deficiency. We currently report the cases of 3 infants with cerebellar hypoplasia and hypovitaminosis A, whose vitamin A consumption was determined to be adequate, and whose mothers had no such deficiency. We suggest a possible pathophysiology whereby a mutation in the gene coding for cytoplasmic retinol-binding protein II, which is expressed both in the placenta and the yolk sac (during fetal development) and in the absorptive intestinal cells, can cause vitamin A deficiency, forming hindbrain anomalies.

Fetal exposure to alcohol, developmental brain anomaly, and vitamin a deficiency: a case report.

Prenatal alcohol exposure is a cause of congenital brain malformations such as hydrocephalus; however, a complete mechanism accounting for this phenomenon has yet to be discovered. We report a case of a newborn who was exposed to alcohol throughout pregnancy and presented with low serum vitamin A and hydrocephalus. To our knowledge, the connection between prenatal ethanol exposure, vitamin A deficiency, and a developmental brain anomaly has never been described in humans before.

An unusual presentation of copper metabolism disorder and a possible connection with Niemann-Pick type C.

Abnormal copper metabolism has been linked with neurological disorders, such as Wilson and Menkes disease. Another disorder causing symptoms similar to copper metabolism disorder is Niemann-Pick type C. However, a definite pathophysiological connection between Niemann-Pick type C and copper metabolism disorders has never been established.

Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency.

Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders. It is characterized by hypoplasia and atrophy of the cerebellar cortex, dentate nuclei, pontine nuclei, and inferior olives. We present an 18-month-old infant with pontocerebellar hypoplasia type 3 and severe vitamin A deficiency.

Lingual dyskinesia and tics: a novel presentation of copper-metabolism disorder.

Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia.