G192(P) Oh doctor: I get very tired and wobbly when I walk! What's wrong with me?. (May 2019)

• Record Type: Journal Article
• Authors: Dwivedi, S; Gupta, R; Sinha, G
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 2
• Page Start: A78
• Page End: A78
• Publication Date: 2019-05
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-rcpch.187
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Aim: To present a rare case of acquired chronic sensory and motor demyelinating polyneuropathy. Case description: A 15 year old Asian girl born to consanguineous parents presented with 6 months history of tiredness, difficulty in walking, running and managing stairs and being unsteady on feet. Mother's pregnancy and delivery was normal. She had surgery in the neonatal period for Hirschsprung's disease. Her developmental milestones were normal. Examination revealed difficulty in heel to toe walking, walking on side of feet, running and getting up from floor. The knee jerks were diminished with absent ankle reflexes. She later developed reduced sensation in right upper arm. Rest of her examination was normal. She had normal blood investigations except Creatinine Kinase was 500 units per litre. MRI head and spine was normal. EMG and Nerve conduction study showed sensory motor Demyelinating Polyneuropathy, likely to be acquired rather than hereditary. Her genetic test for Fredric's ataxia was negative. Her symptoms persisted, although there was slight subjective improvement, hence 2 doses of IV Immunoglobulins were given 4 weeks apart. Repeat EMG and Nerve Conduction studies showed worsening of demyelination. Subsequently, she received 3 days course of IV Methylprednisolone followed by oral prednisolone for 1 month. Result and discussion : Progressive or relapsing motor and sensory dysfunction along with electrophysiological evidence of acquired demyelination in the peripheral nerves are key to diagnosis. Treatment options available are IV Immunoglobulins, steroid course or plasmapheresis. In our case there was no improvement in the symptoms after the course of Immunoglobulins. The effect of steroids is awaited as the course is ongoing. Conclusion: Acquired Sensory motor Demyelinating Polyneuropathy is quite rare with variable presentations, multiple aetiologies and pose diagnostic challenges. Hence, early advice from tertiary neurologist is warranted to diagnose, prevent morbidities and relapse.