Chun Hung Ko

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EDITOR—Rett syndrome (RTT, MIM 312750) is a progressive neurological disorder, occurring almost exclusively in females during their first two years of life . RTT is one of the most common causes of mental retardation in females, with an incidence of 1 in 10 000-15 000 female births. Patients with classical RTT appear to develop normally until 6-18 months of(More)
Paroxysmal kinesigenic choreoathetosis is a rare neurologic disorder characterized by sudden attacks of brief involuntary dyskinetic movement that are precipitated by voluntary movement. A 14-year-old male who presented with frequent brief attacks of hemidystonia triggered by sudden movement is reported. Investigations, including video electroencephalogram(More)
OBJECTIVE To examine the relationship between colposcopic anogenital findings and overall assessment of sexual abuse. DESIGN Prospective study. SETTING Regional hospital, Hong Kong. PATIENTS Seventy-seven children (mean age, 6.5 years; range, 6 months-16 years) referred consecutively for sexual abuse evaluation between July 1999 and June 2002 were(More)
Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. Described is an 8-year-old boy who had had waddling gait, generalized hypotonia, and proximal weakness since early childhood. He responded well to low-dose L-dopa. He had a point mutation of the GTP cyclohydrolase I gene. The patient's(More)
A 14-year-old Chinese boy with a normal perinatal and early developmental history presented at 5 years of age with migraine, intractable epilepsy, ataxia, supraventricular tachycardia, paralytic ileus and progressive mental deterioration. Computerized tomography revealed multiple cerebral infarcts in the parieto-occipital region without basal ganglial(More)
We studied the in vivo cerebral metabolites and documented the presence of MECP2 gene mutations in six Chinese females with Rett syndrome. Magnetic resonance spectroscopy spectra from the frontal lobe (gray and white matter) and deep gray nuclei (basal ganglia and thalamus) of either side were obtained. N-acetylaspartate/total creatine, choline/total(More)
Tyrosine hydroxylase deficiency is a rare neurotransmitter disorder affecting the rate-limiting step in catecholamine biosynthesis. There are about 40 cases reported worldwide. Here, we report the biochemical and molecular findings of eight unrelated Chinese patients with tyrosine hydroxylase deficiency. We have identified eight novel mutations with 5(More)
OBJECTIVE To investigate the relationship between platelet count and serum valproic acid level, age, duration of valproic acid therapy, and polytherapy, and to determine the clinical significance of thrombocytopenia associated with high-dosage valproic acid therapy. DESIGN Cross-sectional study. SETTING Residential unit for neurologically impaired(More)
OBJECTIVE To study the effects of proton pump inhibitors in reducing vomiting, gastrointestinal bleeding, and chest infections in institutionalised neurologically impaired children with gastroesophageal reflux. DESIGN Prospective study. SETTING A regional hospital, Hong Kong. PATIENTS Neurologically impaired children with refractory gastroesophageal(More)
BACKGROUND Traditional Chinese medicine (TCM) has been used historically in the treatment of cerebral palsy (CP). We investigated the efficacy of acupuncture in improving the motor function of children with CP. METHODS A randomised control trial was conducted to assess the effect of tongue acupuncture (TAC) in 33 CP children. The subjects were randomised(More)