P.C. Jacob

A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy

Background: Hereditary spastic paraplegia (HSP) are classified clinically as pure when progressive spasticity occurs in isolation or complicated when other neurologic abnormalities are present. At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. One genetic locus has been identified on chromosome 15q13-q15 (SPG11) for HSP-TCC, but some HSP-TCC families have not been linked to this locus. Methods: The authors characterized two families clinically and radiologically and performed a genome-wide scan and linkage analysis. Results: The two families had complicated ARHSP. The affected individuals in Family A had thin corpus callosum and mental retardation, whereas in Family B two of three affected individuals had epilepsy. In both families linkage analysis identified a locus on chromosome 8 between markers D8S1820 and D8S532 with the highest combined lod score of 7.077 at marker D8S505. This 9 cM interval located on 8p12-p11.21 represents a new locus for ARHSP-TCC. Neuregulin and KIF13B genes, located within this interval, are interesting functional candidate genes for this HSP form. Conclusion: Two consanguineous families with complicated autosomal recessive hereditary spastic paraplegia were clinically characterized and genetically mapped to a new locus on 8p12-p11.21.

Extrapontine myelinolysis as presenting manifestation of adrenal failure: A case report

BACKGROUND Hyponatremia is a fairly common metabolic disorder. Hyponatremic myelinolysis is a relatively rare, life threatening complication with poorly understood pathophysiology, varied clinical manifestations and uncertain treatment. This case report highlights the range of clinical and imaging phenomena associated with hyponatremic myelinolysis. METHODS Case report. RESULT A middle aged lady presented with an acute delirious state, hypotension and severe hyponatremia on a background of skin hyper-pigmentation and weight loss. Her clinical course evolved to an akinetic-rigid state and later to parkinsonism. Extensive investigations for recognizing a primary neurologic disorder, including brain MRI and CSF analysis were normal, though she had disseminated miliary tuberculosis involving multiple organs. Brain MRI changes characteristic of extrapontine myelinolysis appeared two weeks after the onset of symptoms. The patient recovered completely over several weeks. CONCLUSION This case of hyponatremic extrapontine myelinolysis occurred as the presenting manifestation of adrenal failure secondary to disseminated tuberculosis. Extraponine myelinolysis is difficult to diagnose in the context of delayed brain MRI changes and can have a favorable outcome with modern management.

Reversible MRI changes in prolonged status epilepticus: A case report

ABSTRACT MRI is an essential investigation in epilepsy and status epilepticus (SE) for determining the underlying cause. However, SE or prolonged seizures may themselves induce changes in the MRI resulting in difficulty in interpretation. This case report illustrates a patient who recovered completely from prolonged generalized idiopathic SE lasting more than 2 weeks and had transient bilateral external capsule, fronto-temporal, and insular cortical MRI changes. The mechanism of such MRI changes and their implications for survival even after prolonged SE are discussed.

Frequency of Obstructive Sleep Apnea Syndrome Among Patients with Epilepsy Attending a Tertiary Neurology Clinic

OBJECTIVES Epilepsy is a common neurological disorder with a median lifetime prevalence of 14 per 1000 subjects. Sleep disorders could influence epileptic seizure. The most common sleep disorder is obstructive sleep apnea syndrome (OSAS) which occurs in 2% of adult women and 4% of adult men in the general population. The aim of this study is to estimate the frequency of OSAS among patients with epilepsy and to study the seizure characteristics among those patients with co-morbid OSAS. METHODS Patients with a confirmed diagnosis of epilepsy who attended the Sultan Qaboos University Hospital neurology clinic were recruited for the study between June 2011 and April 2012. Patients were screened for OSAS by direct interview using the validated Arabic version of the Berlin questionnaire. Patients identified as high-risk underwent polysomnography. RESULTS A total of 100 patients with epilepsy (55 men and 45 women) were screened for OSAS. Generalized and focal seizure was found in 67% of male and 27% of female patients. Six percent of the participants had epilepsy of undetermined type. Only 9% of the sample was found to have high risk of OSAS based on the Berlin questionnaire. No significant correlation was found between risk of OSAS, type of epilepsy, and anti-epileptic drugs. CONCLUSION The risk of OSAS was marginally greater in patients with epilepsy compared to the general population with the overall prevalence of 9%.

Eating epilepsy in Oman: A case series and report on the efficacy of temporal lobectomy

Eating epilepsy (EE), where seizures are triggered by eating, is rare and has not been reported in the Gulf region. In EE, the ictal semiology includes partial or generalised seizures. Focal brain changes on imaging, if present, are often confined to the temporal lobe or perisylvian region. Therapeutic options, especially in those patients who are refractory to pharmacotherapy, have not been well-established. We report a series of five patients with EE from Oman, a country located in the eastern part of the Arabian Gulf region, and highlight the usefulness of temporal lobectomy in one patient who had medically-intractable EE. Surgical intervention could be considered as a potential therapeutic option in carefully selected patients with medically-intractable seizures.

Ischemic stroke outcomes in Oman: experience of a university-hospital based stroke registry

Objective: To study ischemic stroke (IS) types and outcomes in Oman and factors influencing outcomes in these patients. Background: Rising incidence of stroke is well recognized in many developing countries. Few studies have explored stroke patterns or outcomes in Omani population Design/Methods: Methods: Records of adult patients(>18 yrs) with IS from a Stroke Registry (2009–15) at a university teaching hospital were reviewed for: demographics, stroke type(TOAST), NIHSS, sensorium, risk factors, imaging findings, treatment received and outcome at discharge and follow-up (using modified Rankin Score). Factors influencing outcomes were analyzed using univariate and multivariate methods. Results: Of 600 patients (age: 64±13 yrs; M:F::1.65:1) studied, 461(77%) had first stroke, and 136 (23%) recurrent stroke. 45% had large artery stroke, 22% lacunar, 12% cardioembolic and 11% stroke due to other causes. 12% had an additional stroke mechanism. Risk factors included: Hypertension 70%, Diabetes mellitus –52%, Ischemic heart disease –19%, Atrial fibrillation −11%. 60(10%) received tPA, of whom 37% improved. 10% of patients evaluated with CT/MR angiogram (n=220) had significant carotid stenosis. Overall good outcome (modified Rankin 0–3) was observed in 40%; poor outcome in 60% of patients was associated with recurrent stroke, large artery or embolic stroke, NIHSS>6, GCS Conclusions: Ischemic stroke in Oman reflects the high morbidity/mortality seen in most communities in the region. Characteristics of incident stroke such as stroke recurrence, type, severity and cardiovascular comorbidity are likely the major determinants of stroke outcome. A relatively lower prevalence of extracranial artery disease and possible greater prevalence of multiple stroke mechanisms may also influence on outcomes and merit further study. Disclosure: Dr. Gujjar has nothing to disclose. Dr. Ramachandiran has nothing to disclose. Dr. Al-Asmi has nothing to disclose. Dr. Ganguly has nothing to disclose. Dr. Shoaib has nothing to disclose. Dr. Al-Asmi has nothing to disclose.

Misdiagnosis of Myasthenia Gravis and Subsequent Clinical Implication: A case report and review of literature

The autoimmune disease, myasthenia gravis (MG), can mimic a variety of neurological disorders leading to a delay in diagnosis and treatment. On occasions, misdiagnosis of MG could lead to unnecessary and potentially harmful therapeutic interventions. We report on a 12 year-old boy, in whom MG was mistaken for meningitic sequelae and subsequently for critical neuropathy/myopathy resulting in considerable morbidity for nearly a decade. Subsequent correct diagnosis and optimal management resulted in significant improvement in his functional status. We discuss the importance of considering MG as one of the potential differential diagnoses among cases of recurrent respiratory pump failure, or unexplained bulbar symptoms where documentary proof of the previous diagnoses including work-up for MG is lacking. We also review the literature on MG misdiagnosis and highlight the potential pitfalls in MG diagnosis.

Presentation of epilepsy in a patient with Wilson's disease and developmental venous anomaly (venous angioma) in the Brain

Intracranial developmental venous anomalies (DVAs), also called venous angiomas, and Wilsons disease are both considered rare disorders with varying degrees of neurologic and systemic manifestations; yet the coexistence of the two disorders is considered extremely rare, bearing in mind the low prevalence of each disorder. Epilepsy is a recognised presentation in these disorders and will be the focus of discussion in our report of a 21-year-old male patient who, based on a clinical examination and laboratory and neuroimaging results, was diagnosed with both Wilsons disease and DVA. He presented initially at Sultan Qaboos University Hospital, Oman with tremors and writing difficulties in the right hand followed by the development of epilepsy, and was treated medically by de-coppering and antiepileptic medications. We also present a brief literature review of both disorders, their association with epilepsy, and treatment options. Family screening for patients with Wilsons disease is pivotal in preventing unfavourable outcomes.

Necrotizing Vacuolar Myopathy Presenting with Recurrent Myoglobinuria

ABSTRACT Myoglobinuria occurs in a variety of systemic and neurological disorders and can pose diagnostic challenges. We report on a 23-year-old man in whom recurrent myoglobinuria was observed due to necrotizing vacuolar myopathy confirmed on muscle biopsy. Histopathologically the intramuscular vacuoles lacked the typical findings reported in vacuolar myopathy due to disorders of glycogen and lipid metabolism. We discuss the management approach to recurrent myoglobinuria. Recurrent myoglobinuria in the absence of toxin or drug exposure and seizure is more often due to primary muscle disease. Recognizing the presence of myoglobinuria and the proximate cause is essential in preventing the development of renal dysfunction and the future recurrence of symptoms.

Recurrent episodes of hemiparesis and aphasia

An 81 year old man with hypertension and diabetes mellitus presented to the accident and emergency service seven hours after acute onset of right hemiparesis and expressive aphasia. Seven months previously, he had experienced similar symptoms that had partially improved over the subsequent few weeks. On examination, he was in sinus rhythm. Neurologically, he showed right facial weakness (involving the lower half of his face), right hemiparesis with a power of 4 to 4+ out of 5, right sided pyramidal signs, and non-fluent aphasia. Plain computerised tomography of the brain performed at hospital admission showed an old hypodensity in the right frontal subcortical area. Subsequently, the patient underwent cranial magnetic resonance imaging (fig 1⇓) and a computed tomography angiogram (fig 2⇓) because the blood vessels in the magnetic resonance angiogram were obscured by motion artefacts that precluded proper interpretation. Cardiac evaluation (electrocardiography and echocardiography) showed mild left ventricular hypertrophy, but the patient had no intramural clots, wall motion abnormalities, or arrhythmia. Fig 1 Axial diffusion weighted magnetic resonance image of the brain (A) and the corresponding apparent diffusion coefficient map (B) Fig 2 Coronal computed tomography angiogram of the neck vessels (A, B, C, and D), with corresponding axial segments of the distal cervical portion of the left internal carotid artery indicated by long arrows (E). Sagittal image of the cervical part of the left internal carotid artery (F). Lt, left side ### 1 What abnormalities are observed in the magnetic resonance image? #### Short answer The diffusion weighted magnetic resonance image of the brain (diffusion sensitivity …