Spinocerebellar ataxia 46 in a young female.

Spinocerebellar ataxias (SCAs) are a group of both clinically and genetically heterogeneous neurodegenerative disorders. SCA 46 is a rare autosomal dominant ataxia initially described in a Dutch family, clinically characterized by ataxia, peripheral neuropathy, cerebellar dysarthria, and varied oculomotor abnormalities. SCA 46 has recently been discovered to be associated with a mutation in phospholipase D 3 gene.

AMAN with Ophthalmoparesis: A Rare Presentation.

Acute motor axonal neuropathy (AMAN) is a variant of Guillain-Barré syndrome (GBS), characterized by acute areflexic flaccid quadriparesis with motor axonal changes and absence of demyelinating findings in electrophysiological studies. A 30-year-old man presented with acute onset flaccid type of weakness involving all four limbs, along with drooping of eyelids. Examination revealed ptosis with restricted horizontal and vertical eye movements. Spinomotor system examination revealed acute flaccid areflexic quadriparesis. Nerve conduction studies (NCS) showed features suggestive of motor axonal neuropathy changes. Cerebrospinal fluid (CSF) revealed albuminocytological dissociation. The diagnosis of AMAN was made, and the patient was treated with intravenous immunoglobulin (IVIg). His weakness gradually improved over 1 month, with partial improvement in ptosis and eye movements. This case highlights the occurrence of ophthalmoparesis in the AMAN variant of GBS. The presence of ophthalmoparesis and areflexia makes it necessary to exclude Miller-Fisher syndrome. But, the presence of axonal changes in nerve conduction study and the profound weakness with negative serum anti-GQ1b antibody profile, supports the diagnosis of AMAN. How to cite this article: Budumuru U, Muralidharan K, Sowmini PR, et al. AMAN with Ophthalmoparesis: A Rare Presentation. J Assoc Physicians India 2023;71(11):103-104.

Polyradiculopathy and Multiple Cranial Nerve Palsies - Rare Manifestations of Cerebral Venous Sinus Thrombosis.

We report about two young males who developed significant proximal weakness of all four limbs secondary to intracranial hypertension due to intracranial venous sinus thrombosis. Intracranial venous sinus thrombosis can manifest in a variety of ways which includes isolated intracranial hypertension, focal neurological symptoms or signs and acute or subacute encephalopathy. Various false localising signs have been reported to occur in patients with raised intracranial pressure including cranial nerve palsies and extensive radiculopathy. In a patient presenting with flaccid areflexic quadriparesis and papilledema, the possibility of a potentially reversible dysfunction of the cranial nerves and spinal nerve roots due to a marked rise in intracranial and intraspinal pressure must be recognised. Lumboperitoneal shunt to reduce the intraspinal pressure on the spinal nerve roots has been advocated to reverse the symptoms of extensive radiculopathy in such patients. Both of our patients showed remarkable improvement in symptoms and signs with medical treatment of CVT.

See-Saw Relationship and its Reversal after Immunotherapy in a Case of Graves' Disease with Coexisting Myasthenia Gravis.

The unique association of myasthenia gravis (MG) with Graves' disease in clinical practice emphasizes that one autoimmune disease can coexist with another or many. The relationship between these two entities has remained controversial till date. Some authors have reported a see-saw relationship between these two entities, MG waning with hyperthyroidism and waxing with treatment of hyperthyroidism. Treatment of both these disorders concurrently may be challenging at times as treatment for one entity may worsen the other. The use of beta-blockers and steroids for Graves' disease may worsen myasthenic weakness. Antithyroid drugs can worsen myasthenia probably by immunomodulatory effects. We report a case of Graves' disease coexisting with MG in a reciprocal relationship which was subsequently reversed after immunotherapy.