Rhino-orbito-cerebral mucormycosis is a fungal infection that can be fatal especially in immunocompromised patients. It is extremely rare in immunocompetent individuals. We describe here an immunocompetent patient who survived rhino-orbito-cerebral mucormycosis due to Saksenaea vasiformis, and provide a literature review of this rare entity.
This report deals with an elderly lady with Guillain-Barre Syndrome (GBS), who presented with features of unusually severe hyponatraemia. The hyponatraemia was probably due to the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). The hyponatraemia resolved with water restriction and infusion of hypertonic saline; GBS was treated with human immunoglobulin (IVIG). This patient's experience stresses the importance of monitoring serum sodium levels as hyponatraemia has been identified to be a marker of poor prognosis in GBS.
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.
Severe neurological dysfunction was observed in sheep 4 weeks after grazing on Signal grass (Brachiaria decumbens). These neurological disorders included the stamping of forelegs, star-gazing, incoordination, head-pressing against the fence and circling movements. Histologically, numerous vacuolations of various sizes were observed in the white matter of the brain giving rise to a spongy appearance.
Pathogenic variants in RANBP2 cause autosomal dominant familial and recurrent Acute Necrotizing Encephalopathy of Childhood (ANEC). Affected children typically experience a 3-stage disease: a 3 to 5 days prodrome of non-specific febrile illness, acute encephalopathy, and recovery with or without neurological sequelae or death. Neuroradiological finding of bilateral symmetrical thalamic lesions raise the suspicion of this diagnosis. A devastating disease, reported mortality approaches 1/3 of those affected and only approximately 10% of patients recover completely without sequelae. We report a Malaysian family with RANBP2 pathogenic variant c.1754C>T (p.Thr585Met). The clinical presentation and course over a maximum of 7 years, as well as neuroradiological features of the 3 affected children are described. In contrast to the reported high mortality and morbidity, our patients have recovered with minor sequelae. We would like to highlight the absence of pathogenic variants in both parents' blood, raising the possibility of germline mosaicism in one of the parents as the underlying genetic mechanism of inheritance. To our knowledge, this is the first report of germline mosaicism in RANBP2 Susceptibility to Infection-induced Encephalopathy.
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.
Gene mutation is one of the etiologies of early-onset epileptic encephalopathy (EOEE), an age-dependent seizure in infants, which leads to brain defects. Previous studies have shown that several genes namely, aristalessrelated homeobox (ARX), cyclindependent kinaselike 5 (CDKL5) and syntaxinbinding protein 1 (STXBP1) are responsible for the pathophysiology of the syndrome. Thestudy involved 20 EOEE patients and 60 control subjects, which aimed toinvestigatethe clinical association of Malaysian EOEE subjects with 13 known pathogenic mutations in the genes of interest. In addition, the entire ARX exonic region was also sequenced for known and novel mutations. PCR specificity and efficiency were optimized using conventional PCR and High Resolution Melting Analysis (HRMA). All cases and approximately 10% of control amplicon samples were purified and subjected to DNA sequencing. All known mutations reported previously were not found in control subjects and Malaysian EOEE patients with 100% confirmation by sequencing results. Sequencing of ARX exonic regionsof patient samplesdid not find any mutation in all exons. The preliminary study indicates that selected known pathogenic mutations of ARX, CDKL5and STXBP1are not associated with EOEE in Malaysian paediatric patients.
It has been long known that affective disorders as a result of organic brain diseases are not uncommon. Neurological disorders seem to be significant as risk factors for newly diagnosed mania in the elderly. It has been theorized that lesions in the right cerebral hemisphere and limbic structures may produce symptoms suggestive of mania. Even though specific areas of involvement had not been determined, this case discussed below clearly reports a right sided lesion. One of the reasons why not much is known yet about this clinical entity is the rarity of this occurrence. In fact, in one large scale study, only 2 patients out of 700 were identified with mania.
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.
Colloid cysts are rare intracranial tumors most commonly found in the third ventricle. We present a case of colloid cyst of the third ventricle that manifested as bilateral advance optic disc cupping, superior hemifield defects in the visual fields and normal intraocular pressure.
: We present our initial experience using a simple and relatively cost effective system using existing mobile phone network services and conventional handphones with built in cameras to capture carefully selected images from hard copies of scan images and transferring these images from a hospital without neurosurgical services to a university hospital with tertiary neurosurgical service for consultation and management plan.
The clinical syndrome of dialysis encephalopathy which has been observed all over the world has also been seen here. The clinical syndrome and clinical course are reported; it has been associated with high levels of aluminium in untreated water used for haemodialysis. Since the introduction of water treatment, this disease has not been observed.
Demonstration of arrested intracerebral blood flow is the ultimate evidence of brain death. Computerized radionuclide cerebral flow study was done on 18 patients diagnosed clinically as brain dead. Correlation was made with clinical neurophysiological and EEG findings. The criteria for diagnosis of arrested intracerebral perfusion using radionuclide flow study were: non-visualization of blood flow activity in the intracranial arteries during the arterial phase, diffused cerebral activity during the capillary phase and non-filling of venous sinuses during the venous phase; visualization of typical 'hot nasal' activity; the time activity curve over the cerebral hemispheres lacks a bolus effect and instead shows a delayed gradual rise of activity. These features are pathognomonic of brain tamponade.
Arrested intracranial circulation was seen in 16 patients (ten had electrocerebral silence; one had extremely abnormal EEG with small voltage activity and five had no EEG done). In the remaining two patients, some cerebral blood flow was demonstrated (one had no definite cerebral activity and the other had diffused EEG activity).
Radionuclide cerebral flow study is a very sensitive, accurate, safe, simple, rapid and non-invasive modality in confirming brain death and is especially useful in patients on "brain-protection" regime, in hypothermia or in certain metabolic states where diagnosis based on clinical and EEG criteria is difficult. EEG need not be a required procedure once brain death is established by the demonstration of arrested intracranial circulation.