Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

Labrune’s syndrome, or leukoencephalopathy with brain calcifications and cysts (LCC), is a rare genetic syndrome with variable neurological presentations. Psychiatric manifestations and involuntary movements are uncommonly reported. We report the case of a 19-year-old female, initially diagnosed with Fahr’s syndrome, who presented to us with acute psychosis, abnormal behavior and involuntary movements. Her brain computed tomography showed extensive bilateral intracranial calcifications without cysts. Genetic testing detected two compound heterozygous variants, NR_033294.1 n.*9C>T and n.24C>T, in the SNORD118 gene, confirming the diagnosis of LCC. We discuss the expanding phenotypic spectrum of LCC and provide a literature review on the current diagnosis and management of this rare syndrome.

Concurrent stroke and ST-elevation myocardial infarction: Is it a contraindication for intravenous tenecteplase?

@#Acute ischemic stroke (AIS) and acute ST-elevation myocardial infarction (STEMI) are leading causes of mortality worldwide. Concurrent AIS presentation with STEMI is rare and potentially fatal. Most importantly to date many centres in Malaysia are still not aware on how to treat this condition. We report a case of AIS, which was treated with intravenous tenecteplase (TNK) according to ischemic stroke dosage and lead to improvement of neurological deficit.

Incidence and risk factors of delirium in patients with acute ischaemic stroke

@#Background & Objectives: The reported incidence of post-stroke delirium varies substantially in current medical literature. The impact of delirium on mortality and morbidity is significant and there is need for sustained research on the topic. We aimed to determine the incidence, risk factors and outcome of delirium in acute ischaemic stroke. Methods: We conducted a cross-sectional observational study on consecutive patients with ischaemic stroke. The Confusion Assessment Method was used to diagnose delirium within seven days of stroke onset. Results: Two hundred and eighty patients were recruited (mean age 63.6 years) and 36 (12.9%) developed delirium. After adjustments for covariates, age >65 years (odds ratio, OR 5.2; 95% confidence interval 1.6-17.5); pre-existing dementia (6.5; 1.1-38.2); TACI (7.2; 1.5-35); and a National Institute of Health Stroke Scale of ≥10 (6.8; 1.7-26.4), were independently associated with a risk of developing delirium. Lacunar infarcts were not associated with delirium (0.07; 0.03-0.16). The majority of patients with delirium were cared for in a dedicated stroke unit but this proportion was not significant compared to those without delirium (69.4% vs 58.2%, p=0.20). Delirious patients had significantly higher in-patient mortality (8.3% vs 0%, p=0.002) and longer length of hospital stay (6.94 vs 3.98 days, p< 0.001). Conclusions: One in 8 patients with ischaemic stroke in our centre developed delirium. Older age, pre-existing dementia and severe stroke were independent predictors of delirium. Patients with lacunar infarcts did not develop delirium as often as those with other stroke types. Delirium significantly increased in-patient mortality and length of hospital stay.

A validation study of the Bahasa Malaysia version of the National Institute of Health Stroke Scale

@#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.

POEMS syndrome

POEMS syndrome is the syndrome of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonalprotein and typical Skin changes. A 65-year-old lady presented with the 2-day-history of inabilityto walk, 4-month-history of progressive worsening of muscle weakness of both lower limbs and1-year-history of progressive worsening of bilateral numbness of lower limbs. Nerve conduction studyrevealed generalized sensorimotor demyelinating polyneuropathy. She was initially treated as chronicinflammatory demyelinating polyradiculoneuropathy with intravenous immunoglobulin (IVIG) andhigh-dose prednisolone. However, she had no significant neurological improvement despite gettingstandard therapy. In addition to peripheral neuropathy, the presence of hepatosplenomegaly, skinchanges, polycythaemia and thrombocytosis prompted for further investigations. She was diagnosedas POEMS syndrome based on the presence of two mandatory major criteria [polyneuropathy,monoclonal plasma cell proliferative disorder (lambda)], one major criterion (sclerotic bone lesions)and three minor criteria (organomegaly, skin changes and thrombocytosis/polycythaemia). Shereceived treatment with melphalan and prednisolone. She achieved clinical improvement and partialresponse (haematologic and radiological) after six cycles of therapy. We highlight the awarenessof this rare syndrome, for patients presenting with peripheral neuropathy and not responding to itsstandard therapy, by recognizing other associated clinical manifestations and proceeding furtherdiagnostic work-up.

Validation study of the Malay version of the Myasthenia Gravis Quality of Life (MGQOL)15 and Myasthenia Gravis Activities of Daily Living (MGADL) questionnaires

Myasthenia gravis (MG) is an immune mediated neuromuscular disease causing fatiguability, which can influence quality of life (QOL). MG disease status can be established with Myasthenia Gravis Quality of Life (MGQOL) 15 and Myasthenia Gravis Activities of Daily Living (MGADL) questionnaires to measure patients’ perception of MG-related dysfunction. This study aims to validate the translated Malay versions of the MGQOL15 and MGADL for use in Malay-speaking MG patients. By using the cross cultural adaptation process, both questionnaires were translated into Malay language. Two sets of MGQOL15 Malay version and MGADL Malay version were distributed to MG patients during their routine follow-up to be filled up one week apart. A total of 38 patients were recruited during this study comprising predominantly females compared to males (71% vs 29%) and Malays compared to non-Malays (60% vs 40%). The mean age was 52.5 years; with most of the patients in the 60-69 years old category (37%).The Spearman’s correlation coefficient was 0.987 for MGQOL-15 Malay version and 0.976 for MGADL Malay version, while the internal consistency for MGQOL15 Malay version was 0.952-0.957, and 0.677-0.694 for MGADL Malay version. The MGQOL15 Malay version and MGADL Malay version are reliable and valid instruments for the measurement of quality of life in MG patients in the local setting.

High prevalence of diabetes in stroke patients and its association with lacunar infarction

Background & Objectives: The burden of stroke is increasing, in part due to increasing prevalence of diabetes mellitus. Given the high prevalence of diabetes in the Malaysian population (22.6%), we aimed to determine the prevalence of diabetes in our stroke population. We also aimed to study the stroke subtype associated with diabetes. We hypothesized that lacunar infarction would be more prevalent in diabetics. Methods: We retrospectively reviewed data of consecutive patients with acute ischaemic stroke admitted from October 2004 to December 2010 from our stroke registry. Demographic data, risk factors profile and stroke subtypes were reviewed and analyzed. Results: Eight hundred and fifty eight patients were identified from the registry. As high as 59.3% (n=509) of our patients were diabetics, of which 49.2% (n=422) had pre-existing diabetes and 10.1% (n=87) were newly diagnosed. Lacunar infarction was the commonest stroke subtype, comprising 60.6% (n=519) of all strokes. Diabetes was significantly associated with lacunar infarction (OR 1.5, CI 95% 1.16-2.01, p=0.003), particularly in those aged ≤ 55 years (OR 2.29, 95% CI 1.12-4.67) and HbA1C ≥ 6.5% (χ²=8.77, p=0.003). Conclusions: The prevalence of diabetes in our stroke patients is amongst the highest reported. Diabetes mellitus, particularly those with poor glycaemic control is strongly associated with lacunar infarction.

Evaluation of time-dependent pathways in an acute ischemic stroke protocol that incorporates CT perfusion: A tertiary referral center experience

Background and Objective: Intravenous thrombolysis service for stroke was introduced at the Universiti Kebangsaan Malaysia Medical Centre (UKMMC) in 2009, based on the recommendations of a multidisciplinary team of clinicians. We report the experience at our center in establishing a stroke protocol incorporating computed tomography perfusion (CTP) of the brain, to assess the feasibility of incorporating CTP in the stroke protocol. Methods: A retrospective review of all patients who had a CTP between January 2010 and December 2011 was performed. Results: Of 272 patients who were admitted with acute ischemic stroke, 44 (16.2%) arrived within 4.5 hours from symptom onset and had a CTP performed with the intention to treat. The median time for symptom-to-door, symptom-to-scan and door-to-scan was 90.0 minutes (62.5 – 146.3), 211.0 minutes (165.5 – 273.5) and 85.0 minutes (48.0 – 144.8) respectively. Eight patients (2.9%) were thrombolysed of whom five received IV thrombolysis and three underwent mechanical thrombolysis. The median symptom-to-needle and door-to-needle times were 290.5 minutes (261.3 – 405.0) and 225.0 minutes (172.5 – 316.8) respectively. Four patients were thrombolysed despite being outside the window of treatment based on the CTP findings. Six of the thrombolysed patients had a Modified Rankin Score (MRS) of 1-2 at 5 months post procedure. Conclusions: CTP provides a benefit to management decisions and subsequent patient outcome. It is feasible to incorporate CTP as a standard imaging modality in a stroke protocol. The delays in the time-dependent pathways are due to our work flow and organisational process rather than performing the CTP per se.