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.

Stroke-Like Migraine Attacks After Radiation Therapy (SMART) Syndrome: A Case Report.

Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare and delayed complication of brain irradiation involving impaired cerebrovascular autoregulation, and diagnosis is based on distinct clinic-radiographic findings and exclusion of differentials. We report a 38-year-old man, who received cranial irradiation 28 years before and developed episodes of headache and visual aura, followed by left hemianopia, aphasia, behavioral disturbances, and focal seizures. An MRI of the brain revealed gyral swelling with restricted diffusion and mild contrast enhancement over the right temporoparietal and occipital region, and fludeoxyglucose-FDG PET scan showed hyperperfusion in the corresponding brain region. He improved completely with pulse steroids and antiseizure medications. The recognition of this syndrome is important as we can reassure patients and their families and help avoid unnecessary and invasive diagnostic tests.

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.

Area postrema syndrome: An unusual presentation of neuromyelitis optica spectrum disorder.

Isolated area postrema syndrome (APS) is a rare neurological presentation of, neuromyelitis optica spectrums disorder (NMOSD), recognizable by uncontrollable hiccups, nausea, or vomiting. When it occurs as the first presentation of NMOSD, it may present as a diagnostic challenge as the condition may be frequently attributed to gastrointestinal pathology, and the subsequent diagnostic delay may result in debilitating neurological sequelae such as optic neuritis or myelitis. We report such a case of isolated APS in a young woman who presented with a clinical picture of bouts of vomiting and intractable hiccups causing considerable distress and was finally diagnosed to be a case of seronegative NMOSD.

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.

Subacute Arsenic Neuropathy: Clinical and Electrophysiological Observations.

We report a patient who developed subacute peripheral neuropathy following ingestion of a traditional medicine for obesity. A 9-year-old girl who had a residual equinus varus deformity and sphincter disturbance due to pelvic ganglioneuroma presented with subacute sensorimotor peripheral neuropathy of 2 weeks duration. Her symptoms started 3 weeks after she started taking a locally made traditional medicine for obesity. She had no other systemic features of arsenic toxicity. She had Mee's lines on her nails and high serum arsenic levels and 24-hour urine levels confirmed the diagnosis of arsenic neuropathy. Nerve conduction study on admission demonstrated axonal sensorimotor neuropathy with slowed conduction velocity. She was not given any specific treatment and recovery was slow. At 18 months, she showed complete recovery and electrodiagnostic parameters returned to normal values. Arsenic is a known ingredient of many Indian ethnic remedies and possibility of arsenic neuropathy should be thought of in patients presenting with acute or sub-acute peripheral neuropathy of unknown etiology.

Differential diagnosis of scrub typhus meningitis from tuberculous meningitis using clinical and laboratory features.

OBJECTIVES: The involvement of the central nervous system in the form of meningitis or meningoencephalitis is common in scrub typhus and is an important differential diagnosis of other lymphocytic meningitis like tuberculous meningitis (TBM). The aim of this study was to identify the clinical and laboratory parameters that may be helpful in differentiating scrub typhus meningitis from TBM. PATIENTS AND METHODS: We compared of the clinical and laboratory features of 57 patients admitted with scrub typhus meningitis or TBM during a 3-year period. Patients who had abnormal cerebrospinal fluid (CSF) and positive scrub typhus enzyme-linked immunosorbent assay serology (n=28) were included in the scrub typhus meningitis group, while the TBM group included those who satisfied the consensus diagnostic criteria of TBM (n=29). RESULTS: Compared with the TBM group, the mean duration of symptoms was less in patients with scrub typhus meningitis, who also had a lower magnitude of neurological deficits, such as altered mental status and cranial nerve and motor deficits. Patients with scrub typhus meningitis had a lower CSF white blood-cell count (WBC) than the TBM group (130.8±213 195±175 cells/mm3, P=0.002), lower CSF protein elevation (125±120 vs. 195.2±108.2mg/dl, P=0.002), and higher CSF sugar (70.1±32.4 vs. 48.7±23.4mg/dl, P=0.006). Features predictive of the diagnosis of scrub typhus meningitis included the absence of neurological impairment at presentation, blood serum glutamic-oxaloacetic transaminase>40 international units (IU)/L, serum glutamic-pyruvic transaminase>60 IU/L, total blood leukocyte count>10,000/mm3, CSF protein<100mg/dl, CSF sugar>50mg/dl, CSF WBC<100 cells/mm3. All patients with scrub typhus meningitis recovered completely following doxycycline therapy CONCLUSIONS: This study suggests that, clinical features, including duration of fever, neurological deficits at presentation and laboratory parameters such as CSF pleocytosis,CSF protein elevation, CSF sugar levels and liver enzyme values are helpful in differentiating scrub typhus meningitis from tuberculous meningits. These features with scrub IgM serology may be helpful in identifying patients with scrub meningitis and in avoiding prolonged empirical antituberculous therapy in cases of lymphocytic meningitis.

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.

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.

Low cholesterol as a risk factor for primary intracerebral hemorrhage: A case-control study.

INTRODUCTION: An inverse association between serum cholesterol and the risk of hemorrhagic stroke has been noted in epidemiological studies. We performed a case-control study to assess the relationship between primary intracerebral hemorrhage (ICH) and low serum cholesterol. MATERIALS AND METHODS: Prospectively recruited fully evaluated patients with ICH were compared with a control group based in a primary care practice, i.e. age- and sex-matched individuals attending the routine preventive health check-up. Low cholesterol was defined by the sex-specific lowest quintile of the population. RESULTS: The proportion of ICH patients with low cholesterol was significantly higher than the controls (68% vs. 43%). Mean total cholesterol was also signficantly low in ICH patients compared with controls (177 mg/dL vs. 200 mg/dl; P-value = 0.0006). Low-density lipoprotein cholesterol (LDL-c) and triglycerides were also significantly low in ICH patients compared with controls. Mean LDL-C in the ICH patient group was 114 mg/dL, whereas it was 128.5 mg/dL in the control group (P-value = 0.016). There was no significant difference in the high-density lipoprotein (HDL) levels in both groups. In a subgroup analysis, both men and women in the ICH group had a significantly low mean cholesterol compared with the control group. Although lower mean cholesterol was seen in both young and older individuals in the ICH group than in controls, the difference was significant only in the older group (age >45 years). In multivariate analysis, presence of low cholesterol remained a significant predictor of hemorrhage. The odds ratio of low cholesterol in the hemorrhage cases was 2.75 (95% CI = 1.44-5.49) unadjusted and 2.15 (1.13-4.70) adjusted for age and hypertension. CONCLUSIONS: This study confirms an increased risk of primary ICH associated with low cholesterol both in men and women, especially in older individuals.

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.

Variation in echogenicity of the basal ganglia: anisotropic effect.

We observed that the fetal brain demonstrates relatively increased echogenicity of the basal ganglia compared with the thalami and cortical brain parenchyma, which we did not observe on neonatal sonograms. We hypothesized that the difference in relative echogenicity was due to differences in imaging techniques and anisotropic effects for prenatal and postnatal brain images. In 18 consecutive neonates, we obtained coronal images of the basal ganglia and thalami through the anterior fontanelle and axial images through the anterolateral fontanelle with both 5 and 7.5 MHz transducers. Two observers determined whether increased echogenicity or conspicuity of the basal ganglia was present, comparing the axial and coronal planes. We observed relatively increased echogenicity of the basal ganglia in the axial plane in 11 of the 16 examinations in this series. Of these 11, the increased echogenicity effect was manifest only in the axial plane in seven neonates. In the four instances in which the increased basal ganglia echogenicity was seen in both the coronal and axial planes, the effect was better shown in axial plane in all four. We did not observe any cases of increased echogenicity of the basal ganglia only in the coronal plane. The increased echogenicity was more conspicuous with the lower frequency transducer in 10 of the 11 examinations. We believe that the change in echogenicity of the basal ganglia is predominantly an anisotropic effect. Observing that increased echogenicity of the basal ganglia can disappear or decrease when comparing images in the axial to the coronal plane or be better demonstrated with lower frequency transducers might be a means by which to distinguish this phenomenon from true pathologic processes of the neonatal brain.

Tangier disease--a diagnostic challenge in countries endemic for leprosy.

A case of Tangier disease (TD) is reported from India. The patient had presented with indolent mononeuritis multiplex and trophic ulcers of 16 years duration mimicking Hansen's disease. He received antileprosy treatment for one and a half years. Nerve conduction studies revealed features of demyelinating neuropathy. Biopsies of the sural nerve and skin showed striking vacuolation of Schwann cells and myelin sheaths, and foamy vacuolated fibroblasts, respectively, and no evidence of Hansen's disease. Low levels of apolipoprotein A1 (ApoA1) and cholesterol in the serum and undetectable levels of high density lipoprotein (HDL) and low density lipoprotein (LDL) cholesterol in the blood confirmed the diagnosis of TD. This is the first reported case of TD from a tropical country-India. An attempt to establish a correct diagnosis should be made by demonstrating the histopathological and lipoprotein abnormality to avoid long term medications that are chosen empirically and are unnecessary. The importance of recognising this disease in a country where Hansen's disease is highly endemic cannot be overemphasised.