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Byline: Samir. Patel, Prahlad. Sethi, Ish. Anand, Anuradha. Batra, Pooja. Gupta Sir, Hereditary spastic paraplegia (HSP) or Strümpell–Lorrain syndrome refers to clinically and genetically heterogeneous groups of conditions that are [...]

Vocal cord palsy can have myriad causes. Unilateral vocal cord palsy is common and frequently asymptomatic. Trauma, head, neck and mediastinal tumors as well as cerebrovascular accidents have been implicated in causing unilateral vocal cord palsy. Viral neuronitis accounts for most idiopathic cases. Bilateral vocal cord palsy, on the other hand, is much less common and is a potentially life-threatening condition. Myasthenia gravis, an autoimmune disorder caused by antibodies targeting the post-synaptic acetylcholine receptor, has been infrequently implicated in its causation. We report here a case of bilateral vocal cord palsy developing in a 68-year-old man with no prior history of myasthenia gravis 2 months after he was operated on for diverticulitis of the large intestine. Delay in considering the diagnosis led to endotracheal intubation and prolonged mechanical ventilation with attendant complications. Our case adds to the existing literature implicating myasthenia gravis as an infrequent cause of bilateral vocal cord palsy. Our case is unusual as, in our patient, acute-onset respiratory distress and stridor due to bilateral vocal cord palsy was the first manifestation of a myasthenic syndrome.

Introduction: Isolated extrapontine myelinolysis(EPM) without central pontine myelinolysis(CPM) is a rare entity. It occurs due to the rapid correction of hyponatremia. It commonly presents with features of acute onset parkinsonism and extrapyramidal syndrome which is a challenging diagnosis. Pathologically, there is involvement of basal ganglia, thalamus, cerebellum and subcortical white matter. There is demyelination of nigrostriatal dopaminergic neurons due to rapid osmotic shift. Patient can make good recovery on supportive treatment. Case summary: We present three such cases. One patient presented in coma, the other two with features of parkinsonism which had developed acutely. Their MRI brain revealed high signal in bilateral basal ganglia and thalamus on T2W and Flair images. All the three patients made rapid and complete clinical recovery on supportive treatment. Conclusion: EPM has been described in 10% of patients with CPM, however extrapyramidal symptoms are a rarity as they are masked by pyramidal and brainstem features. The destruction of myelin alone without involvement of the axis cylinder and the neurons explains the prompt clinical and radiological recovery. [ABSTRACT FROM AUTHOR]

Introduction: Megalencephalic leucodystrophy with subcortical cysts(MLC) is a rare form of leucodystrophy described in particular ethnic group(Agarwals)in India. It is an autosomal recessive disease due to mutation in MLC -1 gene (22q13.33) characterized by megalencephaly, early onset ataxia followed by slowly progressive spasticity, occasional seizures and mild to moderate cognitive decline. MRI brain shows early and severe cerebral white matter involvement with subcortical cysts in the temporal lobes and fronto-parietal areas. It is non-progressive variety and the prognosis is good. Management is based on physical and psychomotor therapy and treatment of seizures. Identification of MLC-1 mutation is the only way of prenatal diagnosis. Case Summary: We present here a genetically confirmed case of 7yrs old, Agarwal boy, born of non -consanguinous marriage, delivered through caeserian section due to large head size. The child had normal motor and mental milestones till three years of age when he developed slowly progressive gait and limb ataxia and generalized seizures. There is no family history. MRI brain revealed diffuse white matter changes with bilateral temporal and frontal cortical cysts. Genetic testing revealed MLC-1 gene mutation. [ABSTRACT FROM AUTHOR]

The craniovertebral (CV) junction can be involved in many diseases, e.g. rheumatoid arthritis, as well as destructive bone pathologies such as tumour and tuberculosis (craniovertebral Pott's disease). While some of these patients present acutely with neck pain and neurological deficits, in others the signs and symptoms may be more subtle. Two patients with CV junction involvement are described. One patient suffered from fracture of the anterior arch of atlas after being involved in a motor vehicle accident and the other had craniovertebral Pott's disease. A detailed history and clinical examination was carried out paying special attention to the situation when patients attempted to recline or while getting up from a reclining position. Patients were further investigated with imaging studies which focused on the CV junction. It was noted that patients with CV junction involvement frequently support their head while attempting to recline or when getting up from a reclining posture. This head supporting sign may be the sole neurological finding in some patients with involvement of the CV junction.