Focal cerebral arteriopathy-inflammatory type in a child - MR diagnosis using vessel wall imaging technique with review of classification and diagnostic evaluation criteria.

Acute ischemic stroke (AIS) in childhood is defined by a stroke occurring after 28 days of life to 18 years of age. This presents a distinct clinical challenge in terms of both diagnosis and treatment. The overlapping clinical presentations of acute ischemic stroke and its mimics such as migraine with aura, seizure with Todd paresis and encephalitis renders early accurate diagnosis of this time-sensitive condition difficult, with a change in the final diagnosis in up to 40% of patients.

Deep brain stimulation in a young child with mutation - Feasible and helpful.

Background: is an emerging disorder characterized with hypotonia, developmental delay, epilepsy, and movement disorder, which can be potentially life threatening during acute exacerbation. In the USA, deep brain stimulation (DBS) has been licensed for treating children with chronic, treatment-resistant primary dystonia, who are 7 years old or older.

Case Description: A 4-year-old girl diagnosed to have related dyskinesia and severe global developmental delay.

Exome sequencing in paediatric patients with movement disorders.

Background: Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications after a genetic diagnosis.

Results: We studied a cohort of 31 patients who have paediatric-onset movement disorders with unrevealing etiologies.

Anti-N-methyl-d-aspartate receptor encephalitis in children: Incidence and experience in Hong Kong.

Aim: The study aims to analyze the incidence, clinical features, investigation findings and treatment outcomes of anti-N-methyl-d-aspartate receptor encephalitis in children from Hong Kong.

Method: A retrospective study was carried out on paediatric patients diagnosed with anti-NMDAR encephalitis in Hong Kong from January 2009 to December 2015.

Results: Fifteen patients (67% female, 93% Chinese) were identified over seven years and the estimated incidence in Hong Kong was 2.

Response of levetiracetam in neonatal seizures.

Aim: To review the clinical response to levetiracetam (LEV) in neonatal seizure management in intensive care unit.

Methods: Medical records of neonates who received LEV from January 2009 to August 2014 were reviewed. Their demographic data, clinical characteristics, etiology, seizures, electroencephalograms, response to treatment and outcome were noted.

Growth charts for Chinese Down syndrome children from birth to 14 years.

Objective: To establish Down syndrome (DS)-specific growth charts for Hong Kong Chinese children.

Design And Setting: Growth data were collected from (1) members of the Hong Kong Down Syndrome Association (cross-sectional); (2) DS children attending special schools or living in residential homes (cross-sectional); and (3) the paediatric departments of seven public hospitals (retrospective).

Patients: 425 DS children (57% males and 43% females) born in 1977-2000, yielding 4987 observations.

Aquaporin-4 autoantibody: a neurogenic cause of anorexia and weight loss.

Neuromyelitis optica (NMO) is a severe inflammatory demyelinating disease often associated with a highly specific autoantibody, aquaporin-4 antibody. Although the classic syndrome involves the optic nerves and spinal cord, aquaporin-4 antibody has been important in defining the true spectrum of NMO, which now includes brain lesions in areas of high aquaporin-4 expression. Brainstem involvement, specifically area postrema involvement in the medulla, has been associated with intractable vomiting in some patients with NMO.

First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene.

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of suspicion is important to make the diagnosis. We report two Chinese patients with GLUT1DS, one of which had a novel mutation in the SLC2A1 gene.

Medical issues among children and teenagers with Down syndrome in Hong Kong.

Unlabelled: We examined the prevalence of medical problems in children and teenagers with Down syndrome in Hong Kong.

Methods: Children with Down syndrome receiving care from seven regional hospitals were included and their hospital records were reviewed. A total of 407 patients, aged between 0.

Unexplained subdural hematoma in young children: is it always child abuse?

Background: In the published reports of the developed society, subdural hematoma and/or retinal hemorrhages, in the absence of documented history of major trauma, should be considered diagnostic of child abuse. Many people used the above criteria for diagnosis, but subsequently found that retinal hemorrhages were more common in non-accidental injuries (NAI). To what extent is the proposed pathognomonic association between unexplained subdural hematoma/retinal hemorrhages and child abuse a self-fulfilling prophecy?

Methods: Clinical details of nine children under 2 years with unexplained subdural hematoma admitted to Prince of Wales Hospital between 1995 and 1998 were reviewed.