Hereditary Antithrombin Deficiency Presenting with Cerebral Venous Thrombosis in Three Members of a Family.

Hereditary antithrombin (AT) deficiency is a rare thrombophilia associated with cerebral vein thrombosis (CVT). We report a case study of hereditary AT deficiency causing CVT in three members of a family. A 29-year-old female presented with features of CVT. Her mother and a sister had CVT in the past and investigation for hereditary thrombophilia revealed low blood AT activity in all of them. The index patient (proband) was positive for the SERPINC1 gene mutation confirming the diagnosis of hereditary AT deficiency. She recovered well with anticoagulation and was advised to continue it lifelong. Diagnosing hereditary thrombophilia like AT deficiency is important in planning anticoagulation and proper counseling of asymptomatic family members regarding prophylaxis for venous thromboembolism (VTE) in high-risk situations.

Wernicke's encephalopathy due to hyperemesis gravidarum: Clinical and magnetic resonance imaging characteristics.

Hyperemesis gravidarum-induced Wernicke's encephalopathy (WE) is an underestimated condition. The purpose of this study is to improve its awareness and early diagnosis. We report five cases of WE secondary to hyperemesis gravidarum. Classic triad of encephalopathy, ataxia, and ocular signs was seen in four out of five patients. Two unusual features noted in this series were papilledema in one patient and severe sensory-motor peripheral neuropathy in one patient. Magnetic resonance imaging (MRI) was abnormal in all the five patients, and high signal in medial thalamus and surrounding the aqueduct was the most common abnormality (5/5). Involvement of caudate nucleus was seen in two patients with severe psychosis, and two patients had bilateral cerebellar peduncle involvement. Median time delay between onset of neurological symptoms and diagnosis was 7 days. All patients improved with thiamine, but minor sequelae were seen in four patients at 12 months follow-up. One patient had a fetal demise. Hyperemesis gravidarum-induced WE is a common cause of maternal morbidity. Typical MRI findings of symmetric medial thalamic and periaqueductal signal changes may permit a specific diagnosis. A delay in diagnosis, therefore treatment, leads to worse prognosis.

Factors delaying hospital arrival of patients with acute stroke.

BACKGROUND: Low rates of thrombolysis for ischemic stroke in India and other developing countries have been attributed to delays in presentation to the hospital. MATERIALS AND METHODS: A prospective study was carried out during a 12-month period ending December 2012 in the department of Neurology, Malabar Institute of Medical Sciences, Kerala, India, to look for the factors contributing to delay in hospital arrival of patients with acute stroke. Patients and or their relatives were interviewed within 48 hours of admission using a structured questionnaire. RESULTS: A total of 264 patients attending the emergency department were included. There were 170 men and 94 women. The mean age was 61.5 ± 12.4 years. A total of 67 (25%) patients presented within 4 hours of stroke onset. Factors associated with early arrival (multivariate logistic regression analysis) were distance 15 km or less from hospital (P 0.03, odds ratio (OR) 2.7), directly reaching the stroke department (P < 0.001, OR 9.7), history of coronary artery disease (P 0.001, OR 3.84), higher educational status (P 0.001, OR 3.7), and presence of hemiplegia (P 0.001, OR 5.5). CONCLUSIONS: We found a considerable delay in the early arrival of patients to our stroke department. Health promotion strategies to improve community awareness of early symptoms of stroke, education of local physicians about the importance of early referrals to the stroke centers, and wider availability and use of ambulance services are promising methods to help expedite presentation to hospital post stroke and thereby improve the management of stroke in India.

Reversible cerebral vasoconstriction syndrome in a patient with systemic lupus erythematosus.

A 42-year-old woman, a diagnosed case of systemic lupus erythematosus (SLE), developed severe headache followed by left hemiparesis and cortical blindness. Magnetic resonance imaging (MRI) of brain demonstrated right parieto-occipital infarct and the patient was initiated on high-dose steroids and antiplatelet agents with which the patient had clinical and radiological deterioration. Magnetic Resonance angiography showed severe narrowing of bilateral anterior, middle, and posterior cerebral arteries (PCA) suggestive of reversible cerebral vasoconstriction syndrome (RCVS). Patient was treated with IV nimodipine and she recovered over a period of 2 weeks. Repeat MR-angiography done on day-30 was normal. The diagnosis of RCVS in patients with SLE is of practical importance, because treatment and prognosis for SLE-associated cerebral vasculitis differ strongly from the treatment of RCVS. Empirical high-dose glucocorticoid therapy should be avoided in patients with typical features of RCVS.

Primary Sjögren's syndrome manifesting as multiple cranial neuropathies: MRI findings.

We report a case of primary Sjögren's syndrome presenting with multiple cranial nerve palsies and radiological evidence of cranial pachymeningitis and hypophysitis. A 47-year-old woman developed right sensory neural hearing loss followed, 2 months later, by right facial palsy. Cranial magnetic resonance imaging showed features of pachymeningitis and pituitary gland infiltration. The diagnosis of primary Sjögren's syndrome was confirmed by demonstrating positive SS-A and SS-B antibodies and histological evidence of lymphocytic infiltration of the sublabial salivary gland. During the 2-year follow-up, the patient had transient VI(th), IX(th), X(th), and XII(th) cranial nerve palsies. Sjögren's syndrome should be considered in the differential diagnosis of patients presenting with multiple recurrent cranial nerve palsies, even if prominent sicca symptoms are absent.

Neuromuscular junctional disorders.

Neuromuscular junctional disorders (NMJ) in children are distinct entity. They may be acquired or hereditary. They pose problem in diagnosis because of the higher occurrence of sero negative Myasthenia Gravis (MG) cases in children. The identity of MusK antibody positivity in a good percentage of sero negative cases further adds to problems in diagnosis. The Congenital Myasthenic Syndrome (CMS) which are rare disorders of hereditary neuromuscular transmission (NMT) has to be differentiated because immunotherapy has no benefit in this group. Molecular genetic studies of these diseases helps to identify specific type of CMS which is important as other drugs like Fluoxetine, Quinidine are found to be effective in some. In infancy, all can manifest as floppy infant syndrome. The important key to diagnosis is by detailed electrophysiological studies including repetitive nerve stimulation at slow and high rates and its response to anticholinesterases and estimation of Acetyl choline receptor antibodies. Other causes of neuromuscular transmission defects viz. snake venom poisoning and that due to drugs are discussed.

Myasthenia gravis in children: a longitudinal study.

BACKGROUND: Juvenile myasthenia gravis (JMG) is an uncommon disease. Unlike adults, clinical characteristics and outcomes of myasthenia gravis (MG) are not well studied in children. PATIENTS AND METHODS: Case records of 77 patients with MG who were 15 years of age or less at disease onset, evaluated over a period of 34 years at the National Institute of Mental Health and Neurosciences, Bangalore, India, were reviewed. Their clinical characteristics and response to therapy was compared with 290 patients with MG onset after 15 years of age. RESULTS: Median age at onset was 8 years and mean period of follow-up was 6.2 years (range 6 months to 25 years). At presentation, 30% of patients had ocular myasthenia and the rest had generalized disease. Twenty-one patients (27%) had disease confined to ocular muscles throughout the course and three had limb girdle myasthenia. Familial myasthenia was more common than adult onset disease, 10 patients had positive family history. Unlike adults, none of the patients had associated autoimmune disease. Fifty-two patients (67%) received corticosteroids, and azathioprine was added in five patients. Thymectomy was performed in 11 patients, six below the age of 15 years. Thymic histology was normal in one and showed hyperplasia in eight and thymoma in one. Four patients had crisis. At the end of follow-up, 25 patients were asymptomatic, 28 had partial improvement, and nine remained unchanged or worsened and two died. Ten patients achieved complete stable remission. CONCLUSIONS: This study shows some distinctive characteristics of JMG, such as higher frequency of ocular myasthenia, benign course, better long-term outcome and lack of association of thymoma and other autoimmune disorders.

Role of clinical neurophysiological tests in evaluation of erectile dysfunction in people with spinal cord disorders.

BACKGROUND: While erectile dysfunction is frequent among people with disorders of the spinal cord, the role of various clinical neurophysiological tests in assessment is not clear. AIMS: To study the role of clinical neurophysiological investigations in assessing erectile dysfunction among men with spinal cord disorders. SETTING: National Institute of Mental Health and Neurosciences, India. DESIGN: Survey. MATERIALS AND METHODS: Subjects with a score of 21 or less on the International Index of Erectile Function-5 were classified as with erectile dysfunction and with a score of more than 21 as without erectile dysfunction. Clinical neurophysiological studies done were Sympathetic Skin Response from limbs, posterior tibial sensory evoked potential, pudendal sensory potential and bulbocavernous reflex. STATISTICAL ANALYSES: Chi-square test. RESULTS: Among 40 subjects 26 had erectile dysfunction. The frequency of abnormalities in clinical neurophysiological studies were: pudendal sensory evoked potentials--16, posterior tibial sensory evoked potentials--26, bulbocavernous reflex--5, sympathetic skin response from sole--24 and, sympathetic skin response from palm--18. Significant associations were noted between erectile dysfunction and abnormal pudendal sensory evoked potentials (P=0.0479), and absent sympathetic skin response from palm (P=0.0279) and sole (P< 0.001). There was no correlation between erectile dysfunction and posterior tibial sensory evoked potentials (P=0.133) or bulbocavernous reflex (P=0.418). Sympathetic skin response from sole was most sensitive (80.8%) and had best positive (87.5%) and negative predictive (68.8%) values. The specificity of these three tests was 78.6%. CONCLUSIONS: Sympathetic skin response from the sole of the foot was the most sensitive and specific clinical neurophysiological test for erectile dysfunction in spinal cord disorders.