Headache characteristics in episodic ataxia.
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Adult↗
Biomedical subjects
E Wilder-Smith
Publications and source records attributed to E Wilder-Smith.
Paraneoplastic progressive supranuclear palsy syndrome in a patient with B-cell lymphoma.
An important component in the diagnosis of atypical parkinsonian disorders is the exclusion of secondary causes. Paraneoplastic causes of parkinsonism are extremely rare. We describe a case which presented initially as probable progressive supranuclear palsy (PSP) but on follow-up displayed a rapidly progressive course, unexplained fever, peripheral neuropathy and an abnormal CSF. We highlight the difficulties faced in formulating a diagnosis for this unusual case prior to the discovery of an occult B-cell lymphoma, and discuss its relevance in the exclusion criteria for PSP. A paraneoplastic cause should be considered if disease progression is unusually rapid.
Aged↗
Adult-onset re-emergent stuttering as a presentation of Parkinson's disease.
INTRODUCTION: The basal ganglia-thalamocortical motor circuits are postulated to play a key role in the aetiopathogenesis of stuttering. The main dysfunction is thought to be an impairment in the ability of the basal ganglia to produce timing cues for the initiation of the next motor segment of speech, explaining the association of acquired and re-emergent stuttering with diseases such as dystonia and Parkinson's disease. CLINICAL PICTURE: We describe a 61-year-old man presenting with re-emergent stuttering and mild hypomimia, only to develop unilateral rest tremors, hypo- and bradykinesia, rigidity and gait difficulties one year later. TREATMENT AND OUTCOME: His parkinsonism responded well to treatment with bromocriptine, but he continued to stutter. DISCUSSION: This case illustrates the association between acquired or re-emergent stuttering and basal ganglia disorders, and highlights the need to assess such patients for an underlying aetiology.
Age of Onset↗
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a Chinese family: clinical, radiological and skin biopsy features.
We describe the clinical, radiological, genetic and skin biopsy findings of the first Chinese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Of the 43-member family tree extending over three generations, eight had typical clinical features of CADASIL with recurrent ischemic stroke. In the three surviving affected family members, brain MRI showed extensive leukoaraiosis. Genotyping revealed heterozygous C to T mutation at nucleotide 406 in exon 3. Unusual clinical features were cerebellar infarction as a presenting complaint and a late age of onset with mild symptoms at age 69. A novel finding is the suggestion of a direct correlation between clinical disease severity and the quantity of ultrastructural pathognomonic granular osmophilic material (GOM) seen on skin biopsy.
Aged↗
Melkerrson-Rosenthal syndrome with cardiac involvement.
Melkerrson-Rosenthal syndrome (MRS) is a granulomatous disease usually restricted to the orofacial region. We report a case of MRS in a 37-year-old Malay patient who presented with complete heart block on a background of recurrent oro-facial swelling and facial diplegia. Lip biopsy showed lymphohistocytic granulomatous inflammation typical for MRS. Extensive work-up excluded other causes of the complete heart block. To our knowledge, this is the first reported case of MRS affecting cardiac connective tissues and the first report of MRS in an ethnic Malay. We postulate granulomatous infiltration of the conductive tissues as the basis for the heart block. Another unusual feature of the case was the presence of left eye abduction limitation.
Adult↗
Acute ophthalmoplegia with pupillary areflexia associated with anti-GQ1b antibody.
Raised anti-GQ1b antibody is associated with Miller Fisher syndrome, Guillain-Barre syndrome (GBS) with ophthalmoplegia, Bickerstaff's brain stem encephalitis, acute ophthalmoparesis without ataxia and ataxic GBS without opthalmoplegia. We report a rare case of acute ophthalmoplegia associated with anti-GQ1b antibody that also had pupillary areflexia. A 35-year-old Chinese lady presented with external ophthalmoplegia, pupillary areflexia and no other abnormalities of cranial nerves, muscle tone, deep tendon reflexes, limb power or cerebellar dysfunction. Anti-GQ1b IgG antibody titre was significantly elevated, while neuroimaging of brain and orbital structures, nerve conduction study and cerebral spinal fluid examination were normal. Pupillary areflexia should be recognized as another feature that may be present in conditions associated with raised anti-GQ1b antibody.
Acute Disease↗
Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family.
The clinical spectrum of spinocerebellar ataxia 3 (SCA 3) disease is wide and varied. We describe a Chinese patient with a mutation at the SCA 3 locus with clinical features of levodopa-responsive dystonia. The family history was suggestive of being autosomally dominant. Levodopa responsiveness though rare has been described in families with features of parkinsonism. Noteworthy is the relatively late onset of disease (>40 years) possibly explained by the low number of affected alleles at 59, the usual range being from 62 to 86, with the lowest recorded number at 56. This expands the wide and varied phenotypic manifestations of SCA 3, and highlights the observation that features suggestive of levodopa-responsive dystonia (DRD) such as focal dystonia, gait difficulty with diurnal fluctuation of symptoms, and a marked response to low doses of levodopa can be presenting features of SCA 3. SCA 3 should be considered a differential diagnosis in adult patients who present with DRD phenotype and with a positive family history.
Adult↗
Adult community acquired bacterial meningitis in a Singaporean teaching hospital. A seven-year overview (1993-2000).
BACKGROUND: The objective of this study is to describe the bacteriological, clinical and laboratory features of community acquired bacterial meningitis in adults admitted to a Singapore tertiary-care hospital. METHODS: Two hundred sixty-nine cases of meningitis or meningoencephalitis admitted between 1993 and 2000 were identified by their discharge diagnosis codes. All case records except for 57 which could not be retrieved were retrospectively reviewed. Patients less than 14 years or with skull fractures, post-neurosurgery or with indwelling intracranial devices were excluded. Inclusion criteria was a clinical picture compatible with a diagnosis of bacterial meningitis with either (1) positive cerebral-spinal fluid (CSF) cultures or latex coagglutination or CSF neutrophilic pleocytosis accompanied by positive blood cultures or (2) in the absence of positive blood cultures, CSF cultures and latex agglutination, presence of CSF pleocytosis of at least 100 neutrophils per microL. RESULTS: Fifteen "culture-positive" and 11 "culture negative" cases were identified. Six (55%) of the "culture-negative" cases received antibiotics prior to admission. Cultures grew Streptococcus pneumoniae in four cases, three cases each of Group B streptococci and Neisseria meningitides. Listeria monocytogenes and Klebsiella pneumoniae were each seen twice and Streptococcus suis once. All cases of Group B streptococci occurred in the year 1998. Mortality was 19% (n = 5), six developed infections in other sites, three epileptic seizures, three developed hydrocephalus, and two hearing loss. CONCLUSIONS: Pathogens are similar to those reported in other studies but for an outbreak of Group B Streptococcus in 1998. There were a high number of "culture-negative" cases which may be due to preceding antibiotic intervention.
Adolescent↗
Heart rate changes during partial seizures: a study amongst Singaporean patients.
INTRODUCTION: Studies in Europe and America showed that tachycardia, less often bradycardia, frequently accompanied partial seizures in Caucasian patients. We determine frequency, magnitude and type of ictal heart rate changes during partial seizures in non-Caucasian patients in Singapore. METHODS: Partial seizures recorded during routine EEGs performed in a tertiary hospital between 1995 and 1999 were retrospectively reviewed. All routine EEGs had simultaneous ECG recording. Heart rate before and during seizures was determined and correlated with epileptogenic focus. Differences in heart rate before and during seizures were grouped into 4 types: (1) >10% decrease; (2) -10 to +20% change; (3) 20-50% increase; (3) >50% increase. RESULTS: Of the total of 37 partial seizures, 18 were left hemisphere (LH), 13 were right hemisphere (RH) and 6 were bilateral (BL) in onset. 51% of all seizures showed no significant change in heart rate (type 2), 22% had moderate sinus tachycardia (type 3), 11% showed severe sinus tachycardia (type 4), while 16% had sinus bradycardia (type 1). Asystole was recorded in one seizure. Apart from having more tachycardia in bilateral onset seizures, there was no correlation between side of ictal discharge and heart rate response. Compared to Caucasian patients, sinus tachycardia was considerably less frequent. Frequency of bradycardia was similar to those recorded in the literature. CONCLUSIONS: Significant heart rate changes during partial seizures were seen in half of Singaporean patients. Although sinus tachycardia was the most common heart rate change, the frequency was considerably lower compared to Caucasian patients. This might be due to methodological and ethnic differences. Rates of bradycardia are similar to those recorded in the literature.
Adolescent↗
Group B streptococcal meningitis in adults: recent increase in Southeast Asia.
BACKGROUND: Meningitis caused by Streptococcus agalactiae (Group B Streptococcus) is rare in adults and usually affects patients with predisposing conditions. AIMS: To describe an increase in adult group B streptococcal meningitis occurring in parallel in Hong Kong and Singapore. METHODS: All cases of bacterial meningitis admitted to the Prince of Wales Hospital, Hong Kong and Singapore General Hospital in 1998, aged 15 years or above, were reviewed. Medical records for the previous ten years were searched for previous cases of adult group B streptococcal meningitis. RESULTS: In 1998, 29 adult patients with bacterial meningitis were admitted to the two hospitals. S. agalactiae was isolated in 11 cases, Streptococcus pneumoniae in three cases, Klebsiella pneumoniae in two cases, and Pseudomonas pseudomallei in one case. In 11 cases no bacteriological diagnosis could be made. Two patients with adult group B streptococcal meningitis had predisposing conditions for infection. One patient died before a definite diagnosis could be established. A ten year review of records revealed one previous case of adult group B streptococcal meningitis in a patient with multiple risk factors. CONCLUSIONS: An increase of group B streptococcal meningitis has occurred among adults admitted to two major hospitals in two Southeast Asian cities. In the majority of cases there were no identifiable predisposing conditions. The cause of this increase of group B streptococcal remains unclear.
Adult↗
Brain seizes, heart ceases: a case of ictal asystole.
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Aged↗
Peripheral autonomic nerve dysfunction in asymptomatic leprosy contacts.
In endemic areas, subclinical autonomic nerve dysfunction may be a manifestation of infection with M. leprae and possibly allow detection before progression to clinical disease. Vasomotor reflex (VMR) testing was performed in 36 asymptomatic leprosy contacts (24 household contacts, 12 hospital contacts) and 47 age- and sex-matched controls in Pokhara, Nepal. Mean age was 30 years, two thirds were male. A Moor instruments DRT4 laser doppler monitor was used for velocimetry of microvascular blood flow. The flow reduction following an inspiratory gasp was recorded from finger and toe tips. Mean percent reduction was 57.8 (standard deviation 14.6) among household contacts, 61.9 (17.5) among hospital contacts and 66.8 (7.8) among controls (p=0.001 by analysis of variance). The prevalence of abnormal test results was 54% among household contacts, 42% among hospital contacts and 15% among controls (p=0.0005 by chi-square test for trend). Subclinical autonomic neuropathy is common among healthy contacts of leprosy patients. Prospective studies are now needed to clarify to what extent abnormal VMR tests predict the risk of progression to clinical disease.
Adult↗
Dural puncture and activated protein C resistance: risk factors for cerebral venous sinus thrombosis.
OBJECTIVES: Dural puncture is regarded a safe procedure when contraindications are carefully excluded and has so far not been recognised as a risk factor for cerebral venous sinus thrombosis (CVST). Five patients are described with CVST after dural puncture in the presence of additional risk factors. METHODS: In four out of five patients complete investigations for thrombophilia were performed at least one month after withdrawal of oral anticoagulation. RESULTS: In three out of four patients tested, activated protein C (APC) resistance due to heterozygous coagulation factor V R506Q mutation (factor V Leiden) was found. One patient was using oral contraceptives as a circumstantial risk factor and three had had spinal anaesthesia for surgical procedures. Family history of venous thromboembolism was negative in all patients. Retrospective evaluation of 66 patients with CVST disclosed that dural puncture was the fourth most common risk factor (8%) possibly contributing to thrombosis. CONCLUSION: Dural puncture may constitute an additional risk factor for CVST especially in patients with APC resistance or surgery. In such patients a thrombophilia screen is indicated.
Adult↗
Effect of steroid therapy on parameters of peripheral autonomic dysfunction in leprosy patients with acute neuritis.
Recent electrophysiological studies on peripheral autonomic dysfunction in leprosy patients show a high prevalence of autonomic dysfunction as measured by abnormal vasomotor reflexes (VMR) and absent sympathetic skin response (SSR). Nothing is known about the reversibility of these autonomic parameters with treatment. Since there is evidence that small fiber function may be the most reversible component in neuropathies, we measured the effect of steroid treatment on autonomic parameters together with motor and sensory functions in leprosy patients with acute neuritis. Control subjects were investigated for repeatability testing of autonomic function. Due to a relatively high variability on repeat VMR testing in the controls, we defined a change in VMR testing as a change of > 30%. With this definition, the VMR of 14.8% of the patients improved, 75% remained unchanged, and 10.2% worsened. Absent SSR became positive in 16.6% and remained unchanged in 83.4%. Improvement in sensory motor functions was seen in 21.2% and 1.3% of the patients, respectively.
Acute Disease↗
Vasomotor reflex testing in leprosy patients, healthy contacts and controls: a cross-sectional study in western Nepal.
OBJECTIVE: To examine test characteristics of laser Doppler vasomotor reflex testing for leprosy and to determine the prevalence of abnormal responses in leprosy patients, healthy contacts and controls. DESIGN AND PARTICIPANTS: Cross-sectional study including 89 leprosy patients (mean age 35 years, 74% male), 36 healthy contacts (29 years, 64% male) and 47 controls (30 years, 68% male), for a total of 172 participants. SETTING: Leprosy hospital in an endemic region 200 km west of Kathmandu, Nepal. OUTCOME MEASURE: Finger-tip and toe-tip vasomotor reflexes elicited by inspiratory gasp were measured using a laser-doppler flow temperature technique. Results were expressed in per cent as the maximal reduction in bloodflow from baseline. RESULTS: For all 12 measurement sites there were highly significant (p > 0.0001 to < 0.004) differences between the three groups tested. Leprosy patients consistently had the lowest responses and controls the highest, with healthy contacts showing intermediate values. Thresholds defined as mean bloodflow reductions among controls minus 1.64 or minus 1.96 standard deviations provided optimal combinations of sensitivity and specificity. Using these cut-off values around 80% of leprosy patients, 50% of healthy contacts and 20% of controls had two or more abnormal reflexes (p < 0.0001 for differences between groups). CONCLUSIONS: In endemic regions, subclinical autonomic neuropathy may be an early but detectable marker for the risk of subsequent leprosy, making early treatment and prevention of transmission possible. Prospective studies are needed to establish the predictive value of abnormal vasomotor reflexes.
Adult↗
Changes of autonomic nerve function in the first two weeks of acute neuritis in a patient with borderline leprosy.
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Acute Disease↗
Electrophysiological evaluation of peripheral autonomic function in leprosy patients, leprosy contacts and controls.
Since there is immunocytochemical evidence that the initial damage in leprosy is directed at distal, small, unmyelinated nerve fibers, we investigated several electrophysiological methods for their potential value in detecting peripheral autonomic dysfunction in leprosy contacts and leprosy patients. Fingertip blood flow velocity and its control by vasomotor reflexes (VMR) with a laser Doppler flowmeter, fingertip skin temperature, and the sympathetic skin response (SSR) to exosomatic stimuli were studied in 89 leprosy patients, 36 leprosy contacts and 47 normal subjects. Whereas there were no significant differences between the groups in fingertip skin temperature and resting blood flow velocity measurements, there were significant differences in the prevalence of impaired fingertip VMR and absent SSR. The prevalence of absent SSR in leprosy patients was 60.9%, in contacts 13.8%, in controls 6.3%. The prevalence of abnormal VMR in leprosy patients was 61.2%, in contacts 34.7% and in controls 10.6%. VMR testing is a more sensitive test method for autonomic dysfunction compared with the SSR. The implication of impairment in vasomotor and sudomotor function in leprosy contacts needs yet to be determined. However, we propose this to be a response to exposure to Mycobacterium leprae, which represents either ongoing nerve damage or nonprogressive residual autonomic nerve damage. We suggest that VMR testing and SSR are valuable methods to evaluate early leprous neuropathy.
Adolescent↗
[Complex partial seizures as cause of transient cardiac arrhythmia].
The frequency and type of seizure-induced cardiac arrhythmias is presented in light of 36 partial-complex seizures recorded with simultaneous EEG/ECG. An average increase in heart rate of 35% (sinus tachycardia) was observed in 60% of patients (22/36). Bradycardia was demonstrated in 17% (6/36) due to AV-block in 3 cases, once due to sinus bradycardia and once due to bradycardia in the presence of atrial fibrillation. In one patient with a pacemaker spontaneous heart rhythm ceased. The average slowing of heart rate was 29% with a maximum of 62.5%. In the remaining 23% of patients (8/36), no change in heart rate was observed. These results, in conjunction with those of the literature, indicate that a primary epileptic origin needs to be included in the differential diagnosis of cardiac arrhythmias.
Adolescent↗