An Observational Study of Various Risk Factors and Etiological Profile in Patients with Lower Back Pain at Tertiary Care Center.

OBJECTIVES: The study aimed to analyze the risk factors and etiological profile of lower back pain (LBP) among patients attending a neurology outpatient department at a tertiary care center. MATERIALS AND METHODS: A cross-sectional observational study was conducted, involving 170 patients, aged over 18, presenting with LBP between March and August 2023. Sociodemographic and lifestyle data were collected, and diagnostic investigations, including X-ray and magnetic resonance imaging (MRI), were performed. Patients were categorized into acute and chronic LBP groups for analysis. RESULTS: Age-acute LBP was more prevalent in younger patients (<35 years), while chronic LBP was predominant in older age-groups (≥55 years). Gender-females showed a higher prevalence of LBP compared to males, with chronic LBP more common among females. Triggering events-heavy weightlifting was a significant trigger for chronic LBP, while coughing/sneezing was common in acute LBP. Occupation-patients with physically exerting jobs were more prone to acute LBP, while chronic LBP was prevalent among homemakers and those with no work. Body mass index (BMI)-obesity and overweight were associated with chronic LBP. Medication-chronic LBP patients were more likely to be on medication compared to acute LBP patients. MRI findings-prolapsed intervertebral disk (PIVD) was the most prevalent etiology, more common in chronic LBP patients. Other etiologies included vertebral fracture, tumor, tuberculosis, and various spinal conditions. CONCLUSION: Lower back pain is a multifaceted condition influenced by age, gender, BMI, and lifestyle factors. Effective management and prevention strategies should consider these risk factors to improve patients' quality of life. A comprehensive approach is essential to address the complex etiology of LBP.

Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure.

Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an autosomal recessive, progressive neurodegenerative disorder belonging to inherited cerebellar ataxias. The pathogenic variants of the SETX gene have been implicated in ATX-SETX. We report the case of a 21-year-old woman presenting with ataxia, oculomotor apraxia and dystonia. She had elevated serum α-fetoprotein (AFP), follicle stimulating hormone (FSH) and luteinising hormone (LH) levels and moderate cerebellar atrophy. On further evaluation, she was found to have premature ovarian failure as well. Multiplex ligation-dependent probe amplification detected a heterozygous deletion in exon 6 of the SETX gene. A combination of cerebellar ataxia, oculomotor apraxia with elevated AFP and cerebellar atrophy are highly suggestive of ATX-SETX. In rare instances, it may be associated with premature ovarian failure with elevated FSH and LH levels, necessitating hormonal survey and fertility evaluation in all patients with ATX-SETX.

Central nervous system blast crisis of chronic myeloid leukaemia misdiagnosed as tubercular meningitis.

Chronic Myeloid Leukaemia (CML) presenting with isolated Central Nervous System (CNS) blast crisis is an uncommon entity. A 22-year-old man, diagnosed with chronic phase CML in 2011 and was in haematological and cytogenetic remission until July 2016, had acute onset headache and vomiting with meningeal signs and was admitted elsewhere, investigated by brain imaging and cerebrospinal fluid (CSF) analysis and suspected to have tubercular meningitis, for which steroids and antitubercular medications were started. The patient's sensorium further deteriorated, and Ventriculoperitoneal shunt surgery was done for hydrocephalus by a neurosurgeon. After 2 months of the illness, he was admitted to our hospital with a persistent headache, vomiting and altered sensorium. CSF for cytospin confirmed myeloid blasts. He was still in haematological remission. So, a diagnosis of isolated CNS blast crisis was made. The patient was started on triple intrathecal chemotherapy and cranial radiotherapy. He had improvement with treatment and is still in remission.

An unusual case of basilar artery aneurysm presenting with spastic quadriparesis.

Unruptured aneurysm usually presents with headache and neuro-ophthalmic features; when it ruptures, it presents with subarachnoid haemorrhage. Basilar artery aneurysm represents only 3-5% of cerebral aneurysms. Non-haemorrhagic symptoms and the signs of unruptured aneurysms are manifested as mass effect, thromboembolic phenomenon or epileptical attacks. Clinical presentation of unruptured aneurysm depends on structures which are involved. In our case, the patient had insidious onset headache and spastic quadriparesis with sixth cranial nerve palsy, which implicate involvement of corticospinal pathways at the level of pons.

Multiple endocrine neoplasia type 1 presenting with refractory seizures.

We report a case of 29-year-old woman referred to us for management of refractory epilepsy. Under observation, she was detected to have recurrent hypoglycaemia during the episodes of seizures. On investigation, she was found to have hyperinsulinemic hypoglycaemia. Her triple-phase CT scan of abdomen showed neuroendocrine tumour of pancreatic head, with bilateral renal calculi. Screening of other endocrine glands revealed pituitary microadenoma and parathyroid adenoma on imaging, which was also supported by biochemical and hormonal profile. On the basis of tumours involving parathyroid, pancreatic islets and pituitary gland, she was diagnosed as a case of multiple endocrine neoplasia type 1. Pancreatic tumour removal was done and bromocriptine was started. She was followed up for 6 months postoperatively and never had seizures even without antiepileptic drugs. This case report highlights an exceptional treatable cause of uncontrolled seizures.

Chewing-induced facial dystonia: a rare presentation of task-specific dystonia.

This case is an addition to scarce literature available for a rare condition, chewing-induced task-specific dystonia. The patient was a 63-year-old woman who presented with a 4-year history of progressive difficulty in eating food only during chewing associated with abnormal facial grimaces without any difficulty in drinking, swallowing, speaking or singing. Examination revealed dystonia of facial muscles every time she chewed but absent during drinking and speaking. As movements were consistent and reproducible with the specific task, other differential diagnosis like motor tics, psychogenic disorder, tardive dystonia and parkinsonism syndrome were excluded leading to a diagnosis of task-specific facial dystonia triggered by chewing. Treatment was started with trihexyphenidyl and later on tetrabenazine was also added but she got only mild relief of symptoms. As she did not agreed for botulinum toxin therapy, so we continued with the same treatment without much improvement.

Osmotic demyelination syndrome in type 1 diabetes in the absence of dyselectrolytaemia: an overlooked complication?

Central pontine myelinolysis (CPM) is a demyelinating disorder of central nervous system which involves central portion of the pons and sometimes extrapontine areas also. It is commonly reported in settings of hyponatraemia or its rapid correction, but in the last few years it has also been reported in patients with diabetes in the absence of electrolyte disturbances or correction of serum osmolality. Here we report a case of a 20-year-old female patient, with a known history of type 1 diabetes mellitus, who presented with acute onset spastic quadriparesis with dysarthria and mild ataxia which evolved over 2 weeks. Her MRI brain showed well-defined, bilateral symmetric hyperintense lesion involving central pons showing area of diffusion restriction which was consistent with CPM. Patient was treated conservatively and improved over a period of few weeks. To diagnose more number of cases, we should not overlook CPM in patients with diabetes.

Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy - Case report.

Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping revealed trisomy of chromosome 21. Very few cases had been described in literature of late-onset myoclonic epilepsy in DS. This is first case report from India and our aim is to propose the inclusion of this entity in the spectrum of progressive myoclonic epilepsies but still more cases are yet to be found.

A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody.

Antibodies to GAD-65 have been implicated in the pathogenesis of type 1 diabetes, limbic encephalitis and Stiff person syndrome, however these diseases rarely occur concurrently. We intend to present a rare case of 35 year old female who was recently diagnosed as having type 1 diabetes presented with 1½ month history of recurrent seizures, subacute onset gait ataxia, dysathria, psychiatric disturbance and cognitive decline. No tumor was found on imaging and the classic paraneoplastic panel was negative. Cerebrospinal fluid and blood was positive for GAD-65 antibodies. Patient showed significant improvement with immunomodulatory therapy. Association of GAD-65 antibodies has been found with various disorders including type 1 diabetes, limbic encephalitis, Stiff person syndrome, cerebellar ataxia and palatal myoclonus. This case presents with unique combination of type 1 diabetes, Stiff person syndrome and limbic encephalitis associated with GAD-65 antibodies that is responsive to immunotherapy. It also highlights the emerging concept of autoimmunity in the causation of various disorders and there associations.

Alien hand and leg as the presenting feature of probable sporadic Creutzfeldt-Jakob disease: A rare presentation of a rare disease.

Sporadic Creutzfeldt-Jakob disease (sCJD) can have varied clinical presentation depending upon the genotype at codon 129. The common presenting clinical features of sCJD are rapid onset cognitive impairment, ataxia, psychosis and visual signs (field defects, distortion, cortical blindness). Alien limb sign was first described in patients with corpus callosal tumors and later with other neurodegenerative conditions like corticobasal degeneration. Alien hand complaints as the presenting feature of sCJD has been described in literature, but simultaneous alien hand and leg has been rarely described as presenting feature of sCJD. We describe here a case of a 55-year-old man who presented with progressive left alien hand and leg as the sole clinical manifestation of probable sCJD.

Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature.

SYMPTOMATIC NEUROSYPHILIS (NS) CAN HAVE VARIED SYNDROMIC PRESENTATIONS: Meningitis, meningovascular and parenchymatous involvement. Non-tabetic syphilis affecting the spinal cord is rare and only sporadic case reports have been published. The variant of meningomyelitis known as Erb's paraplegia refers to patients of spinal syphilis with very slow progression over many years and predominantly motor signs. Primary optic atrophy occurs twice as frequently in tabes dorsalis as in other types of NS. We describe here a case of a 32-year-old truck driver who presented with Erb's paraplegia with primary optic atrophy. This clinical overlap in NS is extremely rare and to our knowledge is the first case report of its type.

Study of brain stem auditory-evoked potentials (BAEPs)and visual-evoked potentials (VEPs) in leprosy

A study of brain stem auditory-evoked potentials (BAEPs) and visual-evoked potentials (VEPs) was done on 25 newly diagnosed patients with leprosy whose diagnosis was confirmed by skin biopsy. The results were compared with 25 age- and sex-matched healthy controls. In BAEPs the important observations were the prolonged latency of wave V in 13 (52%), delayed interpeak latency (IPL) of wave I-III in 5 (20%) cases, of wave III-V in 12/25 (40%), suggesting a conduction abnormality of the VIII cranial nerve in its peripheral part, in its nucleus and in its connection in the brain stem. In VEPs, a delayed peak latency of major positive potential (P100) was seen in 20 cases (80%; 11/13, 84.6% TT; 7/10, 70% LL; 2/2, 100% BL), suggestive of subclinical optic nerve involvement. The BAEPs and VEPs were both abnormal in 10 cases (40%; 3/13, 23% TT; 5/10, 50% LL; 2/2, 100% BL). Conduction abnormalities of the central nervous system (CNS) were observed more frequently in lepromatous leprosy, as in other forms of peripheral neuropathy such as hereditary motor sensory neuropathy type I (HMSN I). There is a fair possibility of similar multiple demyelinating lesions in the CNS also, as is seen in leprous peripheral neuropathy. This hypothesis requires further strengthening by an extensive study of multimodality evoked potentials with magnetic resonance imaging in the patients. Histopathological and immunofluorescent studies of autopsy material of the brain can also contribute significantly to solve the dilemma.