MyMedR

Factors associated with outcomes of severe acute necrotizing encephalopathy: A multicentre experience in Malaysia

Lee VWM, Khoo TB, Teh CM, Heng HS, Li L, Yusof YLM, et al.

Dev Med Child Neurol, 2023 Sep;65(9):1256-1263.

This case series compared clinical variables and various combinations of immunotherapy received with outcomes of patients with severe acute necrotizing encephalopathy (ANE). We performed a retrospective review of clinical variables, immunotherapy received, and outcomes (based on the modified Rankin Scale) in Malaysia between February 2019 and January 2020. Twenty-seven children (12 male), aged 7 months to 14 years (mean 4 years) at diagnosis were included. Of these, 23 had an ANE severity score of 5 to 9 out of 9 (high risk). Eleven patients received tocilizumab (four in combination with methylprednisolone [MTP], seven with MTP + intravenous immunoglobulin [IVIG]) and 16 did not (two received MTP alone, 14 received MTP + IVIG). Nine died. Among the survivors, six had good outcomes (modified Rankin Score 0-2) at 6 months follow-up. All patients who received tocilizumab in combination with MTP + IVIG survived. Twenty children received first immunotherapy within 48 hours of admission. No significant association was found between the timing of first immunotherapy with outcomes. Those with brainstem dysfunction (p = 0.016) were observed to have poorer outcomes. This study showed a trend towards better survival when those with severe ANE were treated with tocilizumab in combination with MTP + IVIG. However, larger studies will be needed to determine the effect of this regime on the long-term outcomes.

Matched MeSH terms: Brain Diseases*

Nanoneurotherapeutics approach intended for direct nose to brain delivery

Md S, Mustafa G, Baboota S, Ali J

Drug Dev Ind Pharm, 2015;41(12):1922-34.

PMID: 26057769 DOI: 10.3109/03639045.2015.1052081

Brain disorders remain the world's leading cause of disability, and account for more hospitalizations and prolonged care than almost all other diseases combined. The majority of drugs, proteins and peptides do not readily permeate into brain due to the presence of the blood-brain barrier (BBB), thus impeding treatment of these conditions.

Matched MeSH terms: Brain Diseases

Fulltext A case of Hashimoto encephalopathy in a Malay woman with Graves disease

Ngiu CS, Ibrahim NM, Yahya WN, Tan HJ, Mustafa N, Basri H, et al.

BMJ Case Rep, 2009;2009.

PMID: 21709844 DOI: 10.1136/bcr.01.2009.1501

Hashimoto encephalopathy (HE) is a poorly recognised steroid-responsive encephalopathy, with prominent neuropsychiatric features. Diagnosis is often difficult due to its heterogeneous clinical presentation, especially since the thyroid status or anti-thyroid antibody titres may not be related to the disease state. Here, the case of a 23-year-old Malay woman with Graves disease who presented with progressive encephalopathy diagnosed as HE is presented. She responded dramatically to high dose intravenous and then oral corticosteroid. A month after the initiation of treatment, she regained full independency.

Matched MeSH terms: Brain Diseases

Fulltext A Treatable Encephalopathy in a Peritoneal Dialysis Patient - Cefepime-Induced Encephalopathy

Khoo CS, Tee TY, Tan HJ, Ali RA

J Neurosci Rural Pract, 2019 4 20;10(2):324-326.

PMID: 31001027 DOI: 10.4103/jnrp.jnrp_315_18

We report a patient with end-stage renal disease on peritoneal dialysis, who developed encephalopathy after receiving a few doses of cefepime. He recovered clinically and electroencephalographically after having discontinued the culprit agent and undergone hemodialysis. This case highlights the importance of promptly recognizing this reversible encephalopathy, which can lead to the avoidance of unnecessary workup, reduce the length of hospital stay, and thereby improve the patients' outcome.

Matched MeSH terms: Brain Diseases

Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants

Aburezq M, Alahmad A, Alsafi R, Al-Tawari A, Ramadan D, Shafik M, et al.

Orphanet J Rare Dis, 2023 Sep 05;18(1):271.

PMID: 37670342 DOI: 10.1186/s13023-023-02888-y

BACKGROUND: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.

METHODS: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.

RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Most cases (86%) presented with confusion, dystonia, convulsions, or dysarthria, while three individuals were diagnosed pre-symptomatically during familial targeted genetic screening. Symptoms resolved completely within 2-week of treatment in two-thirds of the symptomatic cases but progressed in six of them to a variety of severe symptoms including severe cogwheel rigidity, dystonia and quadriparesis due to delayed presentation and management. Neuroradiological findings of the symptomatic cases revealed bilateral central changes in the basal ganglia. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases. Age of diagnosis ranged from newborn to 32 years, with a median age of 2-3 years. All cases are still alive receiving high doses of biotin and thiamine.

CONCLUSION: This is the first study reporting the phenotypic and genotypic spectrum of 21 individuals with BTBGD in Kuwait and describing two novel SLC19A3 variants. BTBGD is a treatable neurometabolic disease that requires early recognition and treatment initiation. This study highlights the importance of performing targeted molecular testing of the founder variant in patients presenting with acute encephalopathy in the region.

Matched MeSH terms: Brain Diseases*

Value of cerebral angiography

Soo YS, Ang AH

Med J Malaya, 1971 Mar;25(3):168-74.

PMID: 4253242

Matched MeSH terms: Brain Diseases/radiography*

Intracranial calcifications. II. Pathologic anatomy

Arumugasamy N

Med J Malaya, 1966 Dec;21(2):149-60.

PMID: 4227386

Matched MeSH terms: Brain Diseases/pathology*

Coma and consciousness

Black W, Arumugasamy N

Med J Malaya, 1971 Jun;25(4):241-9.

PMID: 4261293

Matched MeSH terms: Brain Diseases/complications

Brain scans with Tc99m (pertechnetate) in children

Arumugasamy N

Med J Malaya, 1968 Dec;23(2):110-4.

PMID: 4240820

Matched MeSH terms: Brain Diseases/diagnosis*

Cerebral cryptococcosis in Malaysia

Richardson PM, Mohandas A, Arumugasamy N

J Neurol Neurosurg Psychiatry, 1976 Apr;39(4):330-7.

PMID: 932751

Cryptococcal infection of the brain as encountered in a tropical country is reviewed. The meningitic form is not uncommon and there has been, in the last decade, an apparent, if not real, rise in incidence in Malaysia as in Singapore. Only exceptionally was there overt evidence of immunological deficiency. Hydrocephalus was present in about three-quarters of the patients with meningitis and shunts were employed readily. The presence of multiple small intracerebral cysts could be suspected clinically but treatment for this complication was ineffective. The antifungal agent used most frequently was 5-fluorocytosine. Resistance to this drug developed in about one patient in four. There is a need for further epidemiological studies and for a continuing search for new antifungal agents.

Matched MeSH terms: Brain Diseases/diagnosis*; Brain Diseases/drug therapy; Brain Diseases/epidemiology

Fulltext RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, et al.

Am J Hum Genet, 2017 Sep 07;101(3):466-477.

PMID: 28886345 DOI: 10.1016/j.ajhg.2017.08.007

RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p.Cys157Tyr) variants, were microcephalic, with head circumferences between -2.5 to -5 SD. In contrast, two individuals with c.151G>A (p.Val51Met) and c.151G>C (p.Val51Leu) alleles were macrocephalic with head circumferences of +4.16 and +4.5 SD. One individual harboring a c.190T>G (p.Tyr64Asp) allele had head circumference in the normal range. Collectively, we observed an extraordinary spread of ∼10 SD of head circumferences orchestrated by distinct mutations in the same gene. In silico modeling, mouse fibroblasts spreading assays, and in vivo overexpression assays using zebrafish as a surrogate model demonstrated that the p.Cys18Tyr and p.Asn39Ser RAC1 variants function as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebellar abnormalities in vivo. Conversely, the p.Tyr64Asp substitution is constitutively active. The remaining mutations are probably weakly dominant negative or their effects are context dependent. These findings highlight the importance of RAC1 in neuronal development. Along with TRIO and HACE1, a sub-category of rare developmental disorders is emerging with RAC1 as the central player. We show that ultra-rare disorders caused by private, non-recurrent missense mutations that result in varying phenotypes are challenging to dissect, but can be delineated through focused international collaboration.

Matched MeSH terms: Brain Diseases/genetics*; Brain Diseases/pathology

Acute disseminated encephalomyelitis in dengue viral infection

Wan Sulaiman WA, Inche Mat LN, Hashim HZ, Hoo FK, Ching SM, Vasudevan R, et al.

J Clin Neurosci, 2017 Sep;43:25-31.

PMID: 28625589 DOI: 10.1016/j.jocn.2017.05.033

Dengue is the most common arboviral disease affecting many countries worldwide. An RNA virus from the flaviviridae family, dengue has four antigenically distinct serotypes (DEN-1-DEN-4). Neurological involvement in dengue can be classified into dengue encephalopathy immune-mediated syndromes, encephalitis, neuromuscular or dengue muscle dysfunction and neuro-ophthalmic involvement. Acute disseminated encephalomyelitis (ADEM) is an immune mediated acute demyelinating disorder of the central nervous system following recent infection or vaccination. This monophasic illness is characterised by multifocal white matter involvement. Many dengue studies and case reports have linked ADEM with dengue virus infection but the association is still not clear. Therefore, this article is to review and discuss concerning ADEM in dengue as an immune-medicated neurological complication; and the management strategy required based on recent literature.

Matched MeSH terms: Brain Diseases

Observations on the laboratory diagnosis of cerebral torulosis (cryptococcosis)

LIM TW, CHAN KE

Med J Malaya, 1962 Mar;16:193-205.

PMID: 14465296

Matched MeSH terms: Brain Diseases*

Radiological investigation of neurological disorders

Wastie NL, Chawla JC

Med J Malaysia, 1973 Jun;27(4):271-4.

PMID: 4270784

Matched MeSH terms: Brain Diseases/radiography*

Fulltext Induction of apoptosis in neurogenic pulmonary edema

Abu Bakar S, Shafee N, Chee HY

Med J Malaysia, 1999 Sep;54(3):402-3.

PMID: 11045072

Matched MeSH terms: Brain Diseases/complications*

Fulltext Proximal migration of the Hakim's valve into a porencephalic cyst

Chee Pin Chee

Med J Malaysia, 1987 Dec;42(4):309-13.

PMID: 3331410

An unusual case of proximal migration of a Hakim's valve intracranially into a porencephalic cyst two years after insertion of the ventriculo-peritoneal shunt in a neonate is reported. The underlying cause is discussed. It is recommended that all shunt should be anchored with nonabsorbable suture material properly on to the pericranium.

Matched MeSH terms: Brain Diseases/radiography

Classification and concepts of causation of mental illness in a rural Malay community

Chen PCY

Int J Soc Psychiatry, 1970;16(3):205-15.

PMID: 4325131 DOI: 10.1177/002076407001600307

Matched MeSH terms: Brain Diseases/complications

Fulltext Margosa oil poisoning as a cause of toxic encephalopathy

Lai SM, Lim KW, Cheng HK

Singapore Med J, 1990 Oct;31(5):463-5.

PMID: 2259944

Margosa Oil is an extract of the seed of the Neem tree and is widely used as a traditional medicine by Indians in India, Sri Lanka, Burma, Thailand, Malaysia and Indonesia. Used mainly for external applications, it is often administered orally to neonates and infants regularly in small amounts. Margosa Oil causes toxic encephalopathy particularly in infants and young children. The usual features are vomiting, drowsiness, tachypnea and recurrent generalised seizures. Leucocytosis and metabolic acidosis are significant laboratory findings. Management is aimed primarily towards the control of convulsions although supportive management is equally important. Prognosis is usually good but fatalities and neurological deficits have been reported. We report here two infants with Margosa Oil poisoning presenting with encephalopathy.

Matched MeSH terms: Brain Diseases/chemically induced*

Concomitant cerebral and breast cryptococcosis

Arumugasamy N, Chin CS, Wong YH, Chew PH

Aust N Z J Surg, 1985 Oct;55(5):517-8.

PMID: 3868419

A patient with a solitary intracranial cryptococcoma of the occipital lobe of the brain and a concomitant granuloma of similar aetiology in the breast is reported. Despite resistance of the causative fungus to 5-fluorocytosine in vitro, the patient responded well to radical excisional surgery and therapy with 5-fluorocytosine.

Matched MeSH terms: Brain Diseases/complications*; Brain Diseases/etiology; Brain Diseases/therapy

Some aspects of neurophthalmology in general practice

Chin WN

Med J Malaya, 1966 Sep;21(1):97-8.

PMID: 4224887

Matched MeSH terms: Brain Diseases/diagnosis*

Displaying publications 1 - 20 of 83 in total