Thrombosis of the deep cerebral venous system in the absence of superficial sinus thrombosis is a very rare disease. The clinical and radiological findings can be diagnostically challenging due to the subtle appearances on computed tomography (CT) scan. Magnetic resonance imaging (MRI) examination is a preferred imaging modality to complement the CT findings for an accurate diagnosis of venous sinus thrombosis. We present a case of this unusual condition which present as unilateral thalamic lesion on CT scan and the role of contrast enhanced MRI with fast spoiled gradient echo (FSPGR) sequence and 3D reconstruction which led to the diagnosis of thrombosis in the deep cerebral venous system.
Cranial encephaloceles are rare conditions, which are more commonly seen in the anterior rather than in the middle cranial fossa. Temporal lobe encephalocele can present with a variety of clinical symptoms, amongst which include occult or symptomatic cerebrospinal fluid (CSF) fistula. We present a case of a patient with a short history of rhinorrhea who was found to have a CSF pool in the sphenoid sinus and right anteromedial temporosphenoidal encephalocele, which mimics sphenoid mucocoele, a much more common entity. This case highlights the imaging findings of temporosphenoidal encephalocoele and the diagnostic clues in differentiating this rare condition from the commoner mimics.
Background: Tuberculous disease of spine (spinal TB) is under-recognized in tuberculous (TB) meningitis.
The objective of the study was to evaluate the frequency, clinical and neuroimaging changes, and
outcome in the patients with spinal TB.
Methods: All the patients with spinal TB admitted in the two
largest tertiary hospitals in Kuala Lumpur from 2009 to 2017 were recruited, the clinical features were
documented, the magnetic resonance imaging (MRI) of the spine was performed. Clinical outcome was
assessed with Modified Rankin scale (MRS).
Results: Twenty two patients were recruited. This was
out of 70 TB meningitis patients (31.4%) seen over the same period. Eighteen (81.8%) patients had
concomitant TB meningitis. The clinical features consisted of systemic symptoms with fever (63.6%),
meningitis symptoms with altered sensorium (45.5%), myelopathy with paraparesis (36.4%). The
findings on spinal MRI were discitis (36.4%), spinal meningeal enhancement (31.8%), spinal cord
compression (31.8%), psoas abscess (27.3%), osteomyelitis (22.7%), and cord oedema (22.7%). All
except two patients (90.9%) had involvement in psoas muscle, bone or leptomeningeal enhancement,
features that can be used to differentiate from myelopathy that affect the parenchyma only, such as
demyelination. Unusual manifestations were syringomyelia and paradoxical manifestations seen in 3
patients each. The outcome were overall poor, with 68% having MRS 3 or more.
Conclusion: Spinal TB is common in TB meningitis. The outcome is overall poor. A heightened
awareness is crucial to enable early diagnosis and treatment.
Objective: To determine prevalence and factors associated with neuropathic pain symptoms in a multiethnic cohort of Malaysian adult diabetic patients.
Methods: This was aprospective cross-sectional observational study of hospital-based diabetic outpatients in Malaysia. Subjects were interviewed for their demographic data and medical history. The painDETECT questionnaire was used to screen for neuropathic pain symptoms and pain intensity was assessed using the numeric pain rating scale (NPRS). Neuropathy symptoms and signs were assessed using the Neuropathy Symptom Score (NSS) and Neuropathy Disability Score (NDS).
Results:Of 242 patients,140 (58%) were women, with a mean age of 61 + 11.4 years (range 21 to 81). Ninety nine(40.9%) were Malay, 64 (26.4%) Chinese, 76 (31.4%) Indian and three (1.2%) were Eurasian. Mean duration of diabetes was 15.9+ 9.8 years (range 1 to 53) and 232 (95.9%) patients had Type II diabetes. Peripheral neuropathy,based on NSS and NDS criteria, was found in 83 (34.3%). Thirteen (5.4%) patients were found to likely have neuropathic pain symptoms and this was independently associated with peripheral neuropathy ((OR) = 3.40, 95% confidence interval (CI): 1.04, 11.14) and Indian ethnicity (OR = 5.44, 95% CI: 1.50,
19.57)). Patients with neuropathic pain had higher average pain intensity scores.
Conclusions: The prevalence of neuropathic pain symptoms in a Malaysian DM patient cohort was low and was associated with the severity of neuropathy symptoms and Indian ethnicity. The causes for ethnic differences are unknown and could be due socio-cultural or physiological differences in neuropathic pain perception.
Study site: Diabetic clinic, University of Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia
Medulloblastoma is the most common form of childhood primary brain tumour arising from the
cerebellar vermis. It is classified as WHO grade IV embryonal tumours and currently at least four
histological variants have been established. Only few case reports been published on the imaging
features of the medulloblastoma with excessive nodularity variant. We report the MRI features of a rare
case of medulloblastoma with excessive nodularity in a child which is confirmed by histopathology.
Background: Tuberculous meningitis is a life-threatening manifestation resulting from infection
by Mycobacterium tuberculosis, especially in the developing countries. The molecular aspects of
pathogenesis of tuberculous meningitis remain poorly understood. We evaluated the correlation of
cerebrospinal fluid (CSF) and serum cytokine levels with the clinical outcome of 15 HIV-negative
patients with tuberculous meningitis. We also assessed the association of CSF and serum cytokines
with neuroimaging of brain findings in the patients.
Methods: The prospective longitudinal study was
conducted at the University Malaya Medical Centre between 2012 and 2014. Neuroimaging of the
brain was performed and the findings of leptomeningeal enhancement, hydrocephalus, tuberculoma,
infarcts and vasculopathy were recorded. The CSF and serum specimens were analyzed for IL-1ß,
IL-8, IL-10, IL-18, IP-10, IFN-γ, MCP-1, TGF-ß, VEGF, TNF- α, IL-18BPa and MMP-9. The clinical
outcome was graded at 3 months based on Modified Rankin scale (mRS).
Results: On admission and
at one month of anti-tuberculosis treatment, the CSF levels of IL-8, IL-1β, IP-10, IFN-γ and VEGF
were elevated in all of the patients. Serum IP-10, MCP-1, IL-1β and IL-8 levels were increased on
admission and at one month of anti-tuberculosis treatment. There were statistically significant differences
between good and poor outcome (mRS at 3 months) for CSF IFN-γ (p=0.033), CSF IL-10 (p=0.033)
and serum VEGF (p=0.033) at one month of treatment. None of the patients showed any association
between CSF and serum cytokines on admission and at one month of anti-tuberculosis treatment with
neuro-radiological findings.
Conclusion: The CSF cytokine levels were not related to TBM disease severity on admission, and
changes on MRI/CT scans. CSF levels of IFN-γ and IL-10 at one month of anti-tuberculosis treatment
were associated with clinical outcome at 3 months. CSF cytokine levels on admission were not
associated with the clinical outcome.
Objective: We aim to study the prevalence and predictive factors for hip displacement, in order to
justify a hip surveillance programme for children with cerebral palsy (CP) in Malaysia.
Methods:
Children aged 2 to18 years old with CP were recruited from September 2013 till June 2014. The hip
joint migration percentage (MP) and acetabular index (AI) were measured on all hip radiographs.
The CP subtype was determined and gross motor function was classified according to the gross motor
function classification system (GMFCS).
Results: Seventy-five children were recruited. Fifty-five percent of them had marked hip displacement
with MP > 30% and 15% developed hip dislocation (MP=100%). Marked hip displacement occurred
as early as age of 2 years and most hip dislocations were detected by age of 10 years. The risk of
marked hip displacement was directly related to the GMFCS level, from none in GMFCS I to 75% in
GMFCS V. There was a moderate positive correlation between the initial AI and initial MP.
Conclusions: One in every two children with CP was at risk of hip displacement, with GMFCS level
and initial AI as significant predictive factors. We recommend a hip surveillance programme for
Malaysian children with CP, based on the child’s age and GMFCS level, with both MP and AI as
indicators for hip surveillance.
Genetic predisposition to carbamazepine (CBZ)-induced Stevens-Johnson syndrome (SJS) and toxic
epidermal necrolysis (TEN) had been reported in several Southeast Asian populations, but not in
Myanmar. Previous studies had so far reported more than 70% of CBZ-induced SJS/TEN cases
positive for HLA-B*15:02 allele.1-4 Myanmar, as the second largest country in Southeast Asia with a
population of 54.5 million, has high HLA-B*15:02 carrier frequency in its general population (27.3-
49.1%).5,6 We investigated the association of HLA-B alleles and CBZ-induced SJS/TEN in Myanmar
population. HLA-B*15:02 was detected in 3/3 (100%) of cases and 6/53 (11.3%) of tolerant controls,
and HLA-B*15:02 is significantly associated with CBZ-SJS/TEN in Myanmar population (OR 51.2,
95% CI 2.36-1106.95, p=0.003). (Copied from article)
Background and Objective: There is a great challenge to establish a level 4 epilepsy care offering
complete evaluation for epilepsy surgery including invasive monitoring in a resource-limited country.
This study aimed to report the setup of a level 4 comprehensive epilepsy program in Malaysia and the
outcome of epilepsy surgery over the past 4 years.
Methods: This is a retrospective study analyzing
cases with intractable epilepsy in a comprehensive epilepsy program in University Malaya Medical
Center (UMMC), Kuala Lumpur, from January 2012 to August 2016.
Results: A total of 92 cases
had comprehensive epilepsy evaluation from January 2012 till August 2016. The mean age was 35.57
years old (range 15-59) and 54 (58.7%) were male. There were 17 cases having epilepsy surgery
after stage-1 evaluation. Eleven cases had mesial temporal sclerosis and 81% achieved Engel class
I surgical outcome. Six cases had lesionectomy and 60% had Engel class I outcome. A total of 16
surgeries were performed after stage-2 evaluation, including invasive EEG monitoring in 9 cases.
Among those with surgery performed more than 12 months from the time of data collection, 5/10
(50%) achieved Engel I outcome, whereas 2 (20%) had worthwhile improvement (Engel class III)
with 75% and 90% seizure reduction.
Conclusion: Level 4 epilepsy care has an important role and is possible with joint multidisciplinary
effort in a middle-income country like Malaysia despite resource limitation.
Optic neuritis, which may be a precursor to multiple sclerosis (MS), is an uncommon disease in
Asian patients. The Asian Collaborative Longitudinal Optic Neuritis Epidemiology (ACLONE) is
an observational cohort study that assessed the risk of recurrent optic neuritis and/or progression
of further neurologic events, either MS or neuromyelitis optica (NMO) in Asian patients with firstever
optic neuritis. Secondary aims were to study the presenting characteristics and visual outcome,
and to identify risk factors for development of either MS or NMO. A total of 112 patients (25 men
and 87 women) aged from 12 to 61 years were recruited from Singapore, Taiwan, South Korea and
Malaysia. Of these, 94 (84%) had unilateral optic neuritis, with the right eye involved in 45 patients
and the left eye in 49 patients and the remaining 18 (16%) had bilateral optic neuritis. Follow up
data was available for 104 patients, and patients were followed for a median duration of 25.9 months.
Of these patients, 6 patients were adjudicated to have reached the primary endpoint (composite of
MS/NMO and optic neuritis): 3 patients with recurrent optic neuritis also subsequently experienced
neurologic symptoms, and 3 patients without recurrent eye involvement had neurologic symptoms.
Only one patient was considered to have prototypical MS, the other 5 were diagnosed with NMO,
all with subsequent antibody confirmation. Optic neuritis in Asian patients has significantly different
presenting characteristics from the classic description. However, in the majority of the patients it is
usually a benign disease, with good visual outcome and no further events.
We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A),
a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The
21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower
limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but
good cognitive functions. Serum creatine kinase was elevated and white matter changes were detected
in the brain MRI. Muscle biopsy showed dystrophic changes with complete laminin α2 deficiency
by immunohistochemistry. Mutation analysis of LAMA2 showed compound heterozygote at exon 21,
c.2888delG(p.Gly963Alafs*111) and exon 34, c.4886dupC(p.Pro1629Profs*40) leading to premature
stop codon for each of the frameshift mutations. Patient review at seven years of age showed satisfactory
cognitive functions despite having contractures and weakness. Genetic testing of LAMA2 related
muscular dystrophy facilitated the earlier diagnosis of MDC1A and genetic counselling for this family.
Background & Objective: SCN1A gene which encodes for sodium channel alpha 1 subunit has been
found to be the most common mutated gene in patients with epilepsy. This study aims to characterize the
SCN1A mutations as well as to describe genotype and phenotype association in children with SCN1Arelated
infantile-onset epileptic encephalopathies in Malaysia.
Methods: Children with infantile-onset
epileptic encephalopathy mostly suspected to have Dravet syndrome who had mutational analysis for
SCN1A gene from hospitals all over Malaysia were included in the study. Their epilepsy syndrome
diagnosis was classified into severe myoclonic epilepsy in infancy and its variants. Polymerase chain
reaction and bidirectional sequencing were used to identify SCN1A mutations.
Results: A total of 38
children with heterozygous mutations were analysed, 22 (57.9%) of which were novel mutations.
Truncated mutations were the most common mutation type (19, 50%). Other mutation types were
missense mutations (14, 36.8%), splice site mutations (4, 10.5%) and in-frame deletion (1, 2.6%). The
mean age of seizure onset was 4.7 months. Seizure following vaccination was observed in 26.3% of
the children. All of them had drug resistant epilepsy. There was no significant association between
the type of mutation with the syndromic diagnosis, age of seizure onset, tendency of the seizures to
cluster or having status epilepticus, mean age when developmental delay was observed and response
to various antiepileptic drugs.
Conclusion: This study expands the spectrum of SCN1A mutations and proves the importance of
SCN1A gene testing in diagnosing infantile-onset epileptic encephalopathies patients. Although, our
study does not support any clinically meaningful genotype-phenotype association for SCN1A-related
infantile-onset epileptic encephalopathies, the clinical characteristics of our cohort are similar to those
that have been described in previous studies.
Background & Objective: Association between HLA-B*1502 and carbamazepine-induced StevenJohnson
syndrome/toxic epidermal necrolysis (CBZ-SJS/TEN) was reported in many Southeast Asian
populations but not in Indonesian. The purpose of this study was to evaluate the association between
HLA-B*1502 andCBZ-SJS/TEN in an Indonesian population.
Methods: Patients with history of
CBZ-SJS/TEN are recruited as cases and those who tolerated CBZ as controls. HLA-B typing was
performed.
Results: We recruited 14 cases with CBZ-SJS/TEN and 53 controls. Positive HLA-B*1502
was found in 8 (57.1%) cases and 14 (26.4%) controls (OR 3.7, 95% CI 1.09-12.61, p=0.035).
Conclusion: HLA-B*1502 is associated with CBZ-SJS/TEN patients in Indonesian.
We describe a rare presentation of pontine infarction in a lady who was on dual antiplatelet therapy.
Her presentation includes one and a half syndrome, left facial nerve palsy and contralateral hemiataxia.
Magnetic resonance imaging (MRI) of the brain revealed acute infarction of the dorsal pons. A diagnosis
of “nine” syndrome secondary to lacunar stroke was made. She continued dual antiplatelet therapy
and her symptoms resolved completely over three months.
Background: The HLA-B*15:02 polymorphism in epileptic patients is known to be associated with carbamazepine-induced Stevens-Johnson syndrome (SJS). The prevalence of HLA-B*15:02 polymorphism seemed to be ethnic-specific with a higher frequency of HLA-B*15:02 in Asian compared to the Europeans. This study was performed to determine the frequency of the HLA-B*15:02 polymorphism in epileptic patients at the Chancellor Tuanku Muhriz Hospital-UKM Medical Centre (HCTM-UKMMC) using high resolution melting-real time PCR (HRM-QPCR) method.
Methods: We performed a fast and effective in-house high resolution melting-real time polymerase chain reaction method and compared it with the conventional multiplex-PCR method. The specificity and sensitivity of each test were also determined using DNA from saliva.
Results: Using the conventional multiplexPCR approach for screening, 25 out of 64 (39.1%) epileptic patients were positive for HLA-B*15:02. However, using the HRM-QPCR technique, 24/64 (37.5%) of the patients were positive. The one patient who tested positive by the multiplex-PCR but negative using the HRM-QPCR turned out to be negative by DNA sequencing. The HRM-QPCR and DNA sequencing showed 100% sensitivity and specificity. The multiplex-PCR showed 100% sensitivity and 98.4% specificity compared to both HRM-QPCR and DNA sequencing. The HRM-QPCR is also more cost-effective (
Granulomatous amoebic encephalitis caused by Acanthamoeba is a rare entity mainly affecting
immunocompromised patients. We reported a case of Acanthamoeba encephalitis of a 1-year-old
immunocompetent child and described the CT and MRI findings of the brain, while reviewing the
relevant literatures. The imaging findings of Acanthamoeba meningoencepalitis in immunocompetent
patients are non-specific and pose a diagnostic challenge.
Objective: This study evaluates the feasibility of diffusion tensor imaging(DTI) in assessing median
nerve by measuring diffusion parameters such as fractional anisotropy (FA), mean diffusivity (MD),
axial diffusivity (AD) and radial diffusivity (RD) at different sites of median nerve and evaluating
their differences in patients with and without carpal tunnel syndrome (CTS) in local setting. Methods:
A prospective cross sectional study was performed with 9 female patients diagnosed with CTS by
clinical evaluation and nerve conduction study and 8 age and sex matched normal patients. Magnetic
resonance imaging (MRI) wrist was performed with pre-set axial PD and DTI protocol on a 3T
MRI, images post-processed using 3D SLICER software to generate median nerve tract and measure
diffusion parameters FA, MD, AD and RD in segments and focal points. Results: The FA values were
significantly lower in CTS patients, 0.454 (± 0.065), p< 0.002 and demonstrates negative correlation
with disease severity, r = - 0.510, p = 0.002.The mean MD, 1.090 (± 0.178) and mean RD, 0.834
(± 0.128) is higher in CTS patients, p = 0.041 and p = 0.014 respectively. They show an increasing
trend with increasing disease severity. Negative correlation was noted between the FA values and
age groups. FA cut of value of ≤ 0.487 with sensitivity 70.6 % and specificity 76.5%, is suggested
for diagnosing CTS.
Conclusion: MR neurography using DTI can be utilised to detect CTS. Patients with CTS demonstrate
lower FA and higher MD and RD values.
Non-bacterial thrombotic endocarditis (NBTE) denotes the presence of sterile non-infective vegetation
on structurally normal, or subtly degenerate cardiac valves and is often associated with advanced
malignancies. In gynaecological cancer in particular, NBTE has been most commonly associated
with ovarian cancer.1,2 Here we report a rare but interesting case of NBTE in a patient with locally
advanced cervical adenocarcinoma.
Background & Objectives: The National Institute of Health Stroke Scale (NIHSS) provides a valid and quick assessment of stroke severity in hyperacute stroke management. Stroke patients who are eligible for reperfusion therapy require prompt assessment. There is no validated Bahasa Malaysia (BM) version of the NIHSS that allows easier assessment by BM-speaking health professionals. This study aimed to translate and validate a BM version of the NIHSS.
Methods: The English NIHSS was translated to BM, then back translated to ensure linguistic accuracy. We also adapted the language assessment of the NIHSS to be more culturally appropriate. Training and certification videos were downloaded from the NIH website and dubbed into BM. We determined intra-class correlation and unweighted kappa as the best measure of reliability. Median scores were used in the analysis for language items.
Results: One hundred and one raters participated in the test-retest reliability study. Agreement between the original NIHSS and our translated version of the BM-NIHSS was good (ICC = 0.738, 95% CI: 0.611 to 0.823). Fair to moderate agreement was found on item-by-item analysis (unweighted κ=0.20-0.50) despite high observed agreement. Fifty patients participated in the language assessment arm. Scores were better in BM for reading, naming objects and repetition (Mdn = 100, p < 0.001). There was no difference in the median scores for the description component.
Conclusions: The BM-NIHSS is a valid translation of the NIHSS, and may be used in clinical practice by BM-speaking healthcare professionals.
Objective: The primary objective of this study was to describe the neuroimaging changes of tuberculous meningitis (TBM), and to determine the role of neuroimaging in the diagnosis of TBM.
Methods: Between January 2009 and July 2015, we prospectively recruited TBM patients in two hospitals in Malaysia. Neuroimaging was performed and findings were recorded. The control consists of other types of meningo-encephalitis seen over the same period.
Results: Fifty four TBM patients were recruited. Leptomeningeal enhancement was seen in 39 (72.2%) patients, commonly at prepontine cistern and interpeduncular fossa. Hydrocephalus was observed in 38 (70.4%) patients, 25 (46.3%) patients had moderate and severe hydrocephalus. Thirty four patients (63.0%) had cerebral infarction. Tuberculoma were seen in 29 (53.7%) patients; 27 (50.0%) patients had classical tuberculoma, 2 (3.7%) patients
had “other” type of tuberculoma, 18 (33.3%) patients had ≥5 tuberculoma, and 11 (20.4%) patients had < 5 tuberculoma. Fifteen (37.2%) patients had vasculitis, 6 (11.1%) patients had vasospasm. Close to nine tenth (88.9%) of the patients had ≥1 classical neuroimaging features, 77.8% had ≥ 2 classical imaging features of TBM (basal enhancement, hydrocephalus, basal ganglia / thalamic infarct, classical tuberculoma, and vasculitis/vasospasm). Only 4% with other types of meningitis/encephalitis had ≥1 feature, and 1% had two or more classical TBM neuroimaging features. The sensitivity of the imaging features of the imaging features for diagnosis of TBM was 88.9% and the specificity was 95.6%.
Conclusion: The classic imaging features of basal enhancement, hydrocephalus, basal ganglia/thalamic infarct, classic tuberculoma, and vasculitis are sensitive and specific to diagnosis of TBM.