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Biomedical subjects

Huei-Shyong Wang

Publications and source records attributed to Huei-Shyong Wang.

At least 19 recordsLinked to original sources
PubMed2007

A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.

We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T>C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.

Acidosis, Lactic↗
PubMed2006

Tourette's syndrome with cervical disc herniation.

Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of the head and neck is rare. We report here a case of a violent, repetitive neck extension due to Tourette's syndrome that developed cervical myelopathy caused by cervical disc herniation.

Adult↗
PubMed2006

Transcranial color Doppler sonography on healthy pre-school children: flow velocities and total cerebral blood flow volume.

Transcranial color Doppler sonography (TCCD) is a useful tool for intracranial investigation. Using TCCD to calculate total cerebral blood flow volume (TCBFV) can be a useful indicator for intracranial hemodynamic status. We performed a series study of TCCD on 60 healthy kindergarten students. Peak-systolic, end-diastolic, and mean blood velocities of major cerebral arteries, and depth of flow waves were measured. We also collected Gosling pulsatile index (PI) and Pourcelot resistance index (RI) of the arteries. TCBFV was calculated from the mean blood flood velocity and vessel chamber size of the internal carotid artery (ICA) and basilar artery (BA). Fifty children completed the examinations. The TCBFV was 1538+/-416 ml/min with mean cerebral blood flow volume of 571+/-241 ml/min for the ICA system and 983+/-343 ml/min for the BA system. PI, RI, and the velocities of A1, A2, M1, M2, BA, ICA, and TCBFV were not significantly different between girls and boys in this age group. In this study, we used TCCD to determine the normal data of main cerebral arteries and TCBFV of pre-school children in Taiwan. The reference data of velocities and other parameters of main cerebral arteries from our study may serve as a guide for additional pediatric cerebral hemodynamic studies.

Age Factors↗
PubMed2006

Hypertension-induced cerebellar encephalopathy and hydrocephalus in a male.

Hypertensive encephalopathy is believed to be caused by an abrupt elevation in systemic blood pressure. It rarely occurs in children and can be neurologically devastating if it is not recognized and treated immediately. This report describes an 11-year-old male who presented with edema and a cerebellar lesion, with acute obstructive hydrocephalus resulting from hypertensive encephalopathy. A shunt was inserted to relieve pressure in the acute stage. The patient's hydrocephalus and cerebellar swelling subsided when his blood pressure was controlled. The cerebellar lesion had been initially diagnosed as a glioma. In children, a cerebellar lesion occurring with acute obstructive hydrocephalus and hypertensive encephalopathy is rare but reversible. Clinicians should be aware of this condition because it might be misdiagnosed as a tumor of the posterior fossa.

Cerebellar Diseases↗
PubMed2006

Psychological presentations without hepatic involvement in Wilson disease.

Wilson disease is an autosomal recessive inborn error of copper metabolism that leads to neurologic symptoms and variable degrees of hepatic damage. The most common characteristic signs clinically are liver disease, psychiatric disease, neurologic disease, or a combination of these. Early recognition by means of clinical signs and an early initiation of therapy using chelators or zinc-salts are essential for a good outcome and prognosis. This report describes a male suffering from Wilson disease who exhibited an unusual presentation that included psychological manifestations without hepatic involvement. He was initially treated for attention-deficit hyperactivity disorder and a seizure disorder until brain imaging established the diagnosis of Wilson disease.

Attention Deficit Disorder with Hyperactivity↗
PubMed2006

Motor response inhibition in children with Tourette's disorder.

Tourette's disorder has long been regarded as a disorder of involuntary movement. Here the authors show that children with Tourette's disorder do not differ from healthy comparison subjects in stop-signal inhibition. These results suggest the importance of considering motor tics as voluntary rather than as involuntary.

Child↗
PubMed2005

Reverse Shapiro's syndrome--an unusual cause of fever of unknown origin.

Reverse Shapiro's syndrome was first described by Hirayama et al. in a girl with periodic hyperthermia associated with complete agenesis of the corpus callosum. Here we report another such case in a 9-month-old girl presenting with fever of unknown origin since the age of 7 months. On examination, she had mild hypotonia with delayed developmental milestones. No other neurological or physical abnormalities were noted. The cause of her prolonged fever of unknown origin was investigated and all results were negative. Her brain magnetic resonance images showed agenesis of the corpus callosum. On the basis of the previous literature, we suggest that the periodic hyperthermia of this girl was caused by dopaminergic denervation of the hypothalamic thermoregulatory center. Treatment with dopamine agonists (levodopa plus carbidopa) failed to control the hyperthermia.

Agenesis of Corpus Callosum↗
PubMed2005

Hemimegalencephaly: cranial sonographic findings in neonates.

Hemimegalencephaly is a rare neuronal migration disorder characterized by overgrowth of part or all of 1 cerebral hemisphere. Lissencephaly, pachygyria, polymicrogyria, heterotopia, and glial abnormalities are usually noted pathologically in the enlarged hemisphere. We report the sonographic changes associated with hemimegalencephaly in 2 neonates presenting with seizures and correlate these changes with the magnetic resonance imaging findings.

Brain↗
PubMed2005

Infantile myofibromatosis presenting with scalp dermoid cyst.

Infantile myofibromatosis is a disorder of infancy and early childhood, typically presenting as a solitary lesion or multiple widespread nodular tumors localized to skin, subcutaneous tissue, muscle, bone, viscera, or central nervous system. We present a case of infantile myofibromatosis, multicentric type, in a 4-month-old male infant who initially presented with an occipital scalp mass and other skin-colored nodular mass lesions over his face, trunk, and four limbs. He received tissue biopsy to establish a definite diagnosis. Craniotomy was also arranged for tumor removal due to dural involvement with internal extension and compression of adjacent sigmoid sinus. The patient eventually died of cardiopulmonary failure secondary to primary pulmonary hypertension at age 11 months. Before his death, he had suffered from abdominal distention and frequent vomiting, followed by aggravated respiratory distress and cyanosis. Aggressive surveillance for cardiopulmonary or gastrointestinal involvement is recommended in such cases because prognosis varies according to the involvement of vital organs.

Dermoid Cyst↗
PubMed2005

Diagnostic approach to recurrent bacterial meningitis in children.

Recurrence of bacterial meningitis in children is not only potentially life-threatening, but also involves or induces psychological trauma to the patients through repeated hospitalization and multiple invasive investigations if the underlying cause remains undetected. Bacteria migration, along congenital or acquired pathways from the skull or spinal dural defects, gains entrance into the central nervous system (CNS) and should be taken into consideration when children face recurrent bacterial meningitis, however, symptoms and signs of cerebrospinal fluid (CSF) rhinorrhea or otorrhea are rare in such patients. Without evidence of CSF leakage, a cranial symptom/sign or coccygeal cutaneous stigmata may suggest the approximate lesion site, diagnosis and detection remains difficult. To detect an occult dural lesion along the craniospinal axis, such as basal encephalocele, dermal sinus tract, or neurenteric cyst, a detailed clinical evaluation and the use of the modern diagnostic imaging methods is necessary. Because of the possibility of concomitant occurrence of more than one malformation, both the frontal and the lateral skull base should be carefully evaluated. Precise localization of the dural lesion is a prerequisite for successful surgical repair. In addition, the bacteria specificity could leave significant clues: Pneumoccocus or Hemophilus suggests cranial dural defects, E. coli or other gram negative bacilli suggests spinal dural defects, and meningococci suggest immunologic deficiency. Asplenia or immunodeficiency such as complement or immunoglobulin deficiency rarely causes recurrent meningitis without a history of frequent infection of non-CNS areas. Salmonella meningitis or brain abscess should not be treated incompletely or inadequately and could lead to recrudescence, relapse or recurrence of bacterial meningitis. Antibiotic (penicillin or trimethoprim-sulfamethoxazole) induced meningitis may repetitively occur on occasion.

Cerebrospinal Fluid Rhinorrhea↗
PubMed2005

Tourette syndrome: not just a tic disorder.

Although tics are considered the hallmark of Tourette syndrome, arguably tics may not be the only or primary presenting symptom. For many children diagnosed with Tourette syndrome irritability, frustration intolerance, hyperactivity, inattention, ritual behavior or other difficulties may have been present a number of years before the appearance of tics. Children with Tourette syndrome are often highly co-morbid with attention deficit-hyperactivity disorder, obsessive compulsive symptoms, and other related behavioral problems that should be detected and treated effectively. Therefore tics should not be the sole indicator or receive over emphasis in the detection and treatment of Tourette syndrome.

Child↗
PubMed2005

Pollakiuria in children with tic disorders.

BACKGROUND: To describe the rarely reported characteristics of pollakiuria in children with tic disorders (TD). METHODS: During a period of one year, all patients visiting our Tourette Syndrome (TS) Clinic with TD were studied for presentation of pollakiuria. RESULTS: We found that nine (1.9%) out of 467 children with TD had pollakiuria: 407 boys and 60 girls, with a mean age of 8.7 years. Of these nine children, there were eight boys and one girl, and their mean age was 7.4 years. Five had transient TD, one had chronic motor TD and the remaining three had TS. Their pollakiuria recovered within two to six months, except for two male patients aged six and 19 years, whose pollakiuria persisted for more than a year. Factors precipitating anxiety were identified in only three children. Obsessive compulsive behaviors could be traced in eight patients. CONCLUSIONS: Pollakiuria occurring in children with TD is not frequently encountered. It usually has a benign course, as it does in those without tics. However, sometimes the pollakiuria waxed and waned over years, as do tics. Pollakiuria could be a manifestation of tics or a compulsion, instead of just an anxiety disorder.

Adolescent↗
PubMed2004

Sinus pericranii: from gross and neuroimaging findings to different pathophysiological changes.

CASE REPORTS: We report two girls with a typical presentation of sinus pericranii. Both patients received total excision of the subgaleal masses with complete obliteration of the communications to the intracranial portion. However, different gross appearances, neuroimaging findings and intraoperative findings were found. It took more time and attention to control the bleeding due to the large communication between the extracranial and intracranial components in the second case. DISCUSSION: Sinus pericranii is composed of abnormal extracranial vascular tissues that communicate directly with intracranial dural sinuses or veins. A review of the literature showed that 13 out of 31 patients with sinus pericranii had a high-flow pattern. Detailed physical examination and imaging studies to detect dilated scalp veins and a large bony defect should remind surgeons of the presence of large venous communications. Meticulous treatment of the large communication during surgery can avoid massive bleeding.

Child↗
PubMed2004

Acute hydrocephalus upregulates monoamine oxidase mRNA in neonatal rat brain.

Metabolic derangement of the dopamine system in hydrocephalic brain has been observed, but the change of monoamine oxidase (MAO), the major enzyme to metabolize dopamine, is not known. The metabolic changes of dopamine and MAO mRNA in the striatum were examined in acute hydrocephalic rats whose ventricular size and intracranial pressure were controlled to a similar degree. The tissue levels of dopamine and its metabolites as well as MAO-A and MAO-B mRNA elevated significantly in hydrocephalus. Cerebrospinal fluid (CSF) diversion reversed these changes and induced an initial decline, followed by an elevation of these substances in extracellular fluid. In summary, the metabolism of dopamine system in the striatum was up-regulated in acute hydrocephalus and CSF diversion reversed this metabolic derangement.

3,4-Dihydroxyphenylacetic Acid↗