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Oct 31, 2018

7th Congress of the European Academy of Paediatric Societies

0989 - HEREDITARY SENSORY AUTONOMIC NEUROPATHY (HSAN) TYPE 4: AN UNCOMMON CAUSE OF SELF MUTILATION

self-mutilation

neuropathy

hereditary

Abstract

Abstract

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Keywords

self-mutilation

neuropathy

hereditary

Abstract

Background and Aims: Self mutilation is becoming more common in the paediatric age group in the recent years due to increasing incidence of depression, drug abuse, bullying, other psychiatric illnesses and behavioural problems. In this case report, we describe a 5 year old child who presented with history of self mutilation and recurrent fevers. Methods: The patient was a 5 year old male, only child born out of a 3rd degree consanguineous marriage, who came with history of self mutilation and recurrent fevers since 9 months of age. There was history of absence of pain and temperature perception, anhydrosis and hyperactivity as well as delay in social and language milestones. On examination, he had a temperature of 100.8 Fo. Similar readings were recorded at subsequent visits. He also had multiple bruises, scars, mutilation of fingers and tongue along auto-extraction of teeth and conjunctival abrasions. Tendon reflexes were depressed. There was no evidence of thickened nerves. Complete haemogram, renal function, liver function, serum uric acid, B12, serum homocysteine levels were normal but CPK levels were raised. Nerve conduction study and electromyography were normal. A punch biopsy of the skin was showed decrease in the intraepidermal nerve fibre density, consistent with small fibre neuropathy. Results: On clinicopathological correlation, a diagnosis of Hereditary sensory autonomic neuropathy type 4 (HSAN4) was made. Conclusions: It is important to consider rarer causes of self-mutilation such as HSAN in the paediatric age group. A comprehensive history, physical examination and laboratory investigations are necessary before labelling the patient

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© Copyright 2019 Morressier GmbH.
All rights reserved.