Bhavesh Trikamji

Spirituality and Religiosity and Its Role in Health and Diseases.

Religiosity is a factor involved in the management of health and diseases/patient longevity. This review article uses comprehensive, evidence-based studies to evaluate the nature of religiosity that can be used in clinical studies, thus avoiding contradictory reports which arise from misinterpretation of religiosity. We conclude that religiosity is multidimensional in nature and ultimately associated with inherent protection against diseases and overall better quality of life. However, a number of untouched aspects of religiosity need to be investigated further before we can introduce religiosity in its fully functional form to the realm of health care.

Historical perspective of Indian neurology

Objective: To chronicle the history of medicine and neurology in India with a focus on its establishment and evolution. Background: The history of neurology in India is divided into two periods: ancient and modern. The ancient period dates back to the mid-second millennium Before Christ (B.C.) during the creation of the Ayurvedic Indian system of Medicine, which detailed descriptions of neurological disorders called Vata Vyadhi. The early 20th century witnessed the birth of modern Indian medicine with the onset of formal physician training at the nations first allopathic medical colleges located in Madras (1835), Calcutta (1835) and Mumbai (1848). Prior to Indias independence from Britain in 1947, only 25 medical schools existed in the entire country. Today, there are over 355. In 1951, physicians across the field of neurology and neurosurgery united to create the Neurological Society of India (NSI). Four decades later in 1991, neurologists branched out to establish a separate organization called the Indian Academy of Neurology (IAN). Design/Methods: Information was gathered through literature review using PubMed, MD Consult, OVID, primary texts and research at various academic institutions in India. Results: Neurological disorders were first described in ancient India under Ayurveda. The transition to modern medicine occurred more recently through formal training at medical schools beginning in the 1930s. Early pioneers and founders of the NSI (1951) include Dr. Jacob Chandy, Dr. B Ramamurthi, Dr. S. T. Narasimhan and Dr. Baldev Singh. Later, Dr. J. S. Chopra, a prominent neurologist and visionary, recognized the need for primary centers of collaboration and subsequently established the IAN (1991). The future of Neurology in India is growing rapidly. Currently, there are 1100 practicing neurologists and more than 150 post-graduate trainees who join the ranks every year. As the number of neurologists rises across India, there is an increase in the amount of basic, clinical and epidemiological research being conducted across the country every day. Conclusions: The history of neurology in India roots back to its rich culture and tradition. Over time, there has been great structural and organizational evolution and the future of neurology in India appears to be bright. However, the number of neurologists and research in neurology needs to experience a significant growth in the future to ensure the best patient care.

Spinocerebellar ataxia-10 with paranoid schizophrenia

Spino-cerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder that is characterized by cerebellar ataxia, seizures and nystagmus with a fragmented pursuit. Schizophrenia has been reported with SCAs 1 and 2 yet in SCA 10, psychiatric manifestations are uncommon. We report a Hispanic family involving a father and his four children with SCA10 genetic mutation. Two of his children, a 20-year-old female and a 23-year-old male, presented with gradually progressive spino-cerebellar ataxia and paranoid schizophrenia. Neurological examination revealed ocular dysmetria, dysdiadokinesia, impaired finger-to-nose exam, gait ataxia and hyperreflexia in both the cases. Additionally, they had a history of psychosis with destructive behavior, depression and paranoid delusions with auditory hallucinations. Serology and CSF studies were unremarkable and MRI brain revealed cerebellar volume loss. Ultimately, a test for ATAXIN-10 mutation was positive thus confirming the diagnosis of SCA10 in father and his four children. We now endeavor to investigate the association between schizophrenia and SCA10.

MRI Ventral Nerve Root Enhancement in Five Patients Presenting With Extremity Weakness Secondary to Neuroinvasive West Nile Virus.

Approximately 80% of individuals infected with West Nile virus (WNV) are asymptomatic. The remainder may experience fever, myalgias, and nuchal rigidity. About 1% of individuals will suffer from WNV neuroinvasion that can include encephalopathy, cranial nerve involvement, tremor, motor weakness, and in severe cases, flaccid paralysis. A 2-year retrospective study was performed to identify patients with confirmed neuroinvasive WNV, who initially presented with extremity motor weakness. Spine MRI reports were further reviewed to identify the subset of patients with ventral nerve root enhancement. Patient demographics, laboratory diagnostics, hospitalization course, and posthospitalization follow-up were reviewed. Five patients were identified (3 males) with mean age of 55.8 6 9.0 years (see Table 1 for patient summary). Each presented with complaint of subjective fever and progressive lower or upper extremity weakness (of duration 1, 4, 7, 9, and 21 days). WNV was confirmed with elevated immunoglobulin G (IgG) and immunoglobulin M in cerebrospinal FIGURE 1.Magnetic resonance imaging post-contrast T1-weighted sagittal views of lumbar (patients 1–4) and cervical (patient 5) spinal cord demonstrating ventral root enhancement. Black bar represents 1 cm. Journal of CLINICAL NEUROMUSCULAR DISEASE

An unusual case of cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy with occipital lobe involvement

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant angiopathy caused by a mutation in the notch 3 gene on chromosome 19. Clinically, patients may be asymptomatic or can present with recurrent ischemic episodes and strokes leading to dementia, depression, pseudobulbar palsy, and hemi- or quadraplegia. Additional manifestations that have been described include migraine (mostly with aura), psychiatric disturbances, and epileptic seizures. Neuroimaging is essential to the diagnosis of CADASIL. On imaging CADASIL is characterized by symmetric involvement by confluent lesions located subcortically in the frontal and temporal lobes as well as in the insula, periventricularly, in the centrum semiovale, in the internal and external capsule, basal ganglia, and brain stem; with relative sparing of the fronto-orbital and the occipital subcortical regions. We describe a 49 year old male with CADASIL with absence of temporal lobe findings on MRI but predominant lesions within the periventricular white matter, occipital lobes with extension into the subcortical frontal lobes, corpus callosum and cerebellar white matter. Although CADASIL characteristically presents with anterior temporal lobe involvement, these findings may be absent and our case addresses the atypical imaging findings in CADASIL.

Historical and preventive aspect of biological warfare

History has witnessed several civilizations and nations fall prey to bioterrorism. With the rise of new technology, more sophisticated weaponry is being instituted by nations worldwide. Countries spend significant revenue in research and development of their defense infrastructure. We take a look at the evolution of bioterrorism to its current state today. The data were collected from literature review of various online sources such as PubMed, EMBASE, Google scholar, UCLA, and USC libraries over a 2 years period in 2013 and 2014 at Los Angeles, California, USA. We discuss the historical aspects and preventive strategies of biological warfare. We characterize the various kinds of biological weapons and their role in spreading terrorism. In emergency situations where every second count, being equipped with management strategies for biological warfare will help in preventing further damage. This review aims at preparing the physicians for disaster management and disease control.

Ischemic Stroke in a Patient with Parry–Romberg Syndrome

OBJECTIVE This study aimed to discuss a case of a patient with a known diagnosis of Parry-Romberg syndrome (PRS) presenting with ischemic stroke, the second such reported case. BACKGROUND PRS is a rare genetic disorder with progressive hemifacial atrophy, which usually presents within the first 2 decades of life. Neurologic manifestations include trigeminal neuralgia with associated deafness, hemifacial pain with associated migraine headaches, seizures, movement disorders, and neuropsychiatric symptoms. Many patients have elevated antinuclear antibody (ANA) titers. However, stroke is uncommon. CASE DESCRIPTION A 34-year-old right-handed woman, diagnosed with PRS at age 15, presented with right-sided weakness on waking up. Brain magnetic resonance imaging revealed a small infarct of the posterior limb of the left internal capsule. Vessel imaging revealed an aberrant right subclavian artery. Atrophy of the right-sided muscles of mastication is consistent with her known diagnosis of right-sided PRS. Stroke workup revealed a patent foramen ovale; however, no evidence of deep venous thrombosis was found. Hypercoagulability workup revealed an elevated ANA. The cause of stroke in this patient with PRS remains unclear, as she has no known risk factors. CONCLUSION It is possible that elevated inflammatory markers associated with PRS may cause a proinflammatory state and predispose patients to small-vessel vasculopathy. It is important to note the association between PRS and ischemic stroke.

A Case of Sjögren's Syndrome Mimicking Inflammatory Myopathy

Sjögrens syndrome (SS) is a chronic autoimmune disorder, characterized by lymphocytic infiltration of exocrine glands and causing the decreased function of lacrimal and salivary glands. We describe a case of a 34-year-old male who presented with Sjögrens syndrome presenting as myopathy and sensorimotor neuropathy. His creatinine kinase levels were elevated with positive anti-Sjögrens syndrome-related antigen A autoantibodies and anti-Sjögrens syndrome Type B autoantibodies. Electromyography showed evidence of irritable myopathy. Parotid gland biopsy demonstrated focal lymphocytic sialadenitis. The patient favorably responded to high-dose steroids. Thus, although rare, inflammatory myopathy must be considered part of the initial presentation of Sjögrens syndrome.

Recurrent Chemical Meningitis Due to Parasellar Epidermoid Cyst

Intracranial epidermoid cysts are exceedingly rare lesions that result from a disorder of gastrulation. They are seen only in the pediatric patient population. We describe a 44-year-old Hispanic woman who presented with acute confusion. The family reported two months of progressive headaches and two weeks of fever, blurred central vision, and restricted visual fields. On examination, the patient appeared ill, with a low-grade fever and stiff neck. Neurological testing was limited but grossly non-focal. Computerized tomography (CT) of the head and magnetic resonance imaging (MRI) of the brain showed a large cystic mass arising in the sella, where it displaced the normal pituitary gland. Cerebrospinal fluid (CSF) showed mildly elevated opening pressure with high protein, low glucose, and neutrophilic pleocytosis. Extensive serum and CSF evaluation were negative for infectious agents. The patient was initially started on empiric treatment for presumed infectious meningoencephalitis. As tests for bacterial and viral pathogens were normal, she was switched to fluconazole. The mental status returned to normal and she was discharged home with close follow up. She returned one month later with a recurrent headache, nausea, and stiff neck. The examination showed meningismus but was otherwise non-focal. MRI of the brain showed no change in the parasellar mass. Repeat CSF showed an even higher white blood cell (WBC) count and protein with continued hypo-glycorrhachia. She underwent trans-nasal trans-sphenoidal hypophysectomy and pathology revealed a squamous epithelium-lined keratin-filled cyst suggestive of an epidermoid cyst. The patient responded well to surgery and was discharged on pituitary hormone supplements alone. To our knowledge, this is a first adult case of recurrent chemical meningitis secondary to a ruptured epidermoid cyst in the sella.

Mitochondrial neurogastrointestinal encephalomyopathy syndrome with an unusual pattern of inheritance

Sir, Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) disease is a rare autosomal recessive disorder characterized by gastrointestinal dysmotility, external ophthalmoplegia, mitochondrial myopathy, peripheral neuropathy, and leukoencephalopathy.[1] Mutations in the thymidine phosphorylase (TYMP) gene (previously known as ECGF1) are known to cause MNGIE syndrome. We report a Hispanic family with confirmed diagnosis of MNGIE syndrome. The affected members included three of the four male siblings and their mother, maternal uncle, and maternal aunt [Figure 1]. Our patient is a 19-year-old male who was referred to neuromuscular clinic to rule out Charcot–Marie–Tooth disease, after having recurrent 5th metatarsal fractures bilaterally and chronic diarrhea. His family history revealed early deaths in the maternal side of his family, including his mother, maternal aunt, maternal uncle, and his older brother while the grandmother was unaffected. His older brother with disease was evaluated for mitochondrial disorders when he presented with ophthalmoplegia, myopathy, peripheral neuropathy, leukoencephalopathy on brain magnetic resonance imaging, and functional short gut syndrome with chronic diarrhea at the age of 10 years. His complete mitochondrial genome analysis revealed only a heteroplasmic mutation which codes for the mitochondrial encoded ribosomal subunit RNR2. Hence, the diagnosis of MNGIE was inconclusive. Our patient on neurological examination had normal mental status with intact cranial nerves. He had mild distal bilateral lower extremity weakness with atrophy and loss of large fiber sensation in his feet. His initial electromyography/nerve conduction studies showed moderate sensory motor polyneuropathy with mixed axonal and demyelinating features. Based on family history and clinical presentation, we decided to perform genetic testing for MNGIE syndrome despite the unusual pattern of inheritance. TYMP mutation revealed one predicted pathogenic mutation (c.1128-1153:26 bp deletion, heterozygous frameshift) and one of unknown clinical significance (c.977G>A; p.Gly326Asp, heterozygous missense). Although the inheritance pattern of MNGIE syndrome is autosomal recessive, we observed an unusual pattern of maternal inheritance in this family which delayed the diagnosis before referral of the family to our center. We postulated that severe TYMP dysfunction may have resulted in de novo mitochondrial mutations in germinal cells of the mother. The oldest offspring was probably spared due to younger age of mother at the time of pregnancy. We conclude that in clinically appropriate settings, diagnosis of MNGIE syndrome should not be dismissed due to a maternal pattern of inheritance as currently available interventions may be critical in the management of these patients.