Journal Article

Sensory ataxia with cranial nerve palsies

Grundmann, Alexander, Hardwick, Marc, Ledingham, David, Miller, James

2022

Overview

Table 1 provides the background history.Table 1 Patient’s clinical and social background Medical history Steroid responsive pulmonary fibrosis (usual interstitial pneumonia pattern)—June 2019 left cerebellar infarct 4 months before, confirmed on MRI: presented with dysarthria and vertigo from which he fully recovered. The presence of complex ophthalmoplegia and other cranial nerve involvement further narrows the differential diagnosis.Table 2 Differential diagnosis Pathophysiology Differential diagnosis Inflammatory Miller Fisher syndrome pharyngo-cervical-brachial variant of Guillain-Barré syndrome Sjögren’s syndrome systemic lupus erythematosus sarcoidosis inflammatory neuropathy associated with antidisialosyl antibodies: CANOMAD (chronic ataxic neuropathy, ophthalmoplegia, monoclonal protein, cold agglutinins and disialosyl antibodies) Paraneoplastic Anti-Hu syndrome anti-CV2, anti-PNMA2, anti-MA1, anti-amphiphysin and anti-CRMP-5 syndromes Toxic Cisplatin and other chemotherapeutics pyridoxine toxicity Inherited or degenerative Friedreich’s ataxia CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia syndrome) Infective HIV syphilis Lyme disease Idiopathic Several immune-mediated neuropathies are compatible with this cluster of symptoms and subacute presentation. Table 3 outlines the results.Table 3 Clinical and laboratory investigations and results Investigation Result MR scan of brain on admission Deep left frontal and left cerebellar white matter T2 lesions consistent with previous infarcts no other findings to account for presentation CSF analysis Opening pressure not elevated protein 0.78 g, white cell count 2, glucose 4.4 IgG band detected that was matched in the serum Nerve conduction studies Upper limb: markedly reduced or absent sensory responses with motor responses within the normal range lower limb: acceptable responses, no reason identified for lower limb ataxia needle EMG: chronic neurogenic changes in right upper limb, lower limbs and thoracic paraspinal muscles Blood results at presentation Routine bloods were unremarkable normal serum B12 and folate infective screen normal including: HIV, Hep B and C, syphilis, Lyme serology negative antinuclear antibody, ANCA, serum ACE. Serum kappa/lambda ratio normal cold agglutinins negative CT scan of chest, abdomen and pelvis no evidence of malignancy bilateral lower lobe predominant fibrotic changes associated prominent mediastinal and hilar lymphadenopathy thought likely to be reactive. no pelvic or axillary lymphadenopathy Clinical course continued gradual progression 9 weeks from symptom onset Schirmer’s test negative Blood results 9 weeks into presentation Antineuronal antibody panel (including Hu, amphiphysin and CRMP5): negative anti-ganglioside antibody panel: positive GD1b IgM, GD1a IgG and IgM, GM1 IgM and GQ1b IgM ACE, Angiotensin-converting enzyme; ANCA, Anti-neutrophil cytoplasm antibodies; CSF, Cerebrospinal fluid; EMG, Electromyography.

• Publisher: BMJ Publishing Group Ltd,BMJ Publishing Group LTD
• Subject: Antibodies / Ataxia / Ataxia - complications / Autoimmune diseases / Chemotherapy / Cold / Cranial Nerve Diseases - complications / Cranial Nerve Diseases - diagnosis / Dysarthria / Electromyography / Eye movements / Guillain-Barre syndrome / Humans / Laboratories / Medical imaging / neuropathy / paraneoplastic syndrome / Peripheral neuropathy / Pneumonia / Proteins / Syphilis / Test yourself / Tumors