14 research outputs found
Episodic neurological dysfunction in hereditary peripheral neuropathy
Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) was confirmed with detection of mutation in Gap Junction B1 (GJB1) gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation). Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes
Neuro-Bechet’s disease: a case series from India
Abstract Background There are several studies which have studied large cohort of Neuro-Bechet’s disease (NBD) patients worldwide However, there is sparse literature about NBD from India. We aimed to characterize the clinical, radiological characteristics, treatment response and outcome in NBD. Methods The study was a retrospective descriptive analysis of a cohort of patients with NBD evaluated between January 2017 to June 2021, fulfilling the International Consensus Recommendation (ICR) criteria for NBD. Results Twelve patients were diagnosed as NBD during the study period. The mean age of the patient was 34.7 ± 11.1 (range 21–59 years). The mean duration of illness was 1.4 ± 1.2 years. All 12 patients had neuroparenchymal NBD. Systemic symptoms were present in 6 patients (50%). Pyramidal tract involvement (67%) was the most common symptom and sign followed by cranial nerve, spinal cord and visual involvement. Pathergy test was positive in 6 patients (50%). Human leucocyte antigen (HLA) B51 positivity was seen in all patients. Thalamus (100%) was the most common area involved followed by pons (80%). Favourable outcome (modified Rankin Scale scores ≤ 2) was seen in 7 patients, poor outcome in 3 patients and 2 patients were lost to follow-up after first attack. Conclusion NBD is prevalent in India and there is need for clinical suspicion. Brainstem and cerebral syndrome are the most common presentation of NBD and thalamus is the most common site of involvement in NBD
Autoimmune antibodies positivity in probable sporadic Creutzfeldt–Jakob disease: A mini-review of literature
A systematic review and meta-analysis of Optical coherence tomography studies in Schizophrenia, Bipolar disorder and Major depressive disorder
Objectives- Due to the common neurodevelopmental origin and easy accessibility, the retina serves as a surrogate marker for changes in the brain. Hence, Optical Coherence Tomography (OCT), a tool to examine the neuronal layers of retina has gained importance in investigating psychiatric disorders. Several studies in the last decade have reported retinal structural alterations in schizophrenia (SCZ), bipolar disorder (BD), and major depressive disorder (MDD). However, the findings are inconsistent. Hence, we conducted a meta-analysis to investigate alterations in OCT parameters in patients with SCZ, BD and MDD
Spastic ataxia with sensory neuropathy sans cerebral leukodystrophy in probable adult polyglucosan body disease
ANCA-associated vasculitic neuropathy following Anti-SARS-CoV-2 vaccination: An epiphenomenon or causal association?
A rare treatable cause for atypical frontotemporal dementia with multiple fractures in a young female
Frontal and temporal lobe involvement in young people is seen in infections like neurosyphilis, Vitamin B12 deficiency, NPH, tumors and neurometabolic disorders apart from neurodegenerative dementias. Involvement of other parts of neuraxis in addition to Fronto temporal features is a clue for the specific diagnosis. Cerebro tendinous xantamatosis (CTX) is a rare treatable inborn error of bile acid metabolism. Reported average delay from onset of symptoms to diagnosis is about 16 years as per reports. A patient responds very well to treatment, if diagnosed before significant neurological damage had occurred. 40 year old female had been symptomatic for 11 years with tendon xanthomas, severe osteopenia and multiple fractures. She presented to us with features of Frontal, temporal and cerebellar involvement. Frontal and temporal lobe dysfunction in neuropsychological tests with MRI showing frontal, temporal and cerebellar atrophy. Genetic testing with whole exome sequencing showed TREM2 (-) (ENST00000373113) Exon 2 c.377T>G (p.Val126Gly) Homozygous Autosomal recessive. Short stature, tendon xanthomas, cognitive behavioral impairment with severe osteopenia is consistent with the diagnosis of CTX. CTX is a relatively rare and treatable cause for atypical Fronto temporal dementia
An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy
Tangier disease is a rare metabolic disorder that causes neuropathy in half of the affected individuals. We present the clinical, electrophysiological, and histopathological findings in a middle-aged gentleman of Tangier disease who was initially diagnosed as leprosy and treated with antileprosy drugs. The presence of a demyelinating electrophysiology in a patient with predominant upper limb involvement and facial diplegia should raise the suspicion of Tangier disease. Estimation of serum lipids should form a part of routine evaluation in order to avoid misdiagnosis