ICNC Abstracts, ICNC 2018

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A RARE TYPE OF HEREDITARY SENSORY AUTONOMIC NEUROPATHY
PRIYANKA SUNIL WALZADE, SHRUTI AGRAWAL, MANSI SHAH, VIRAJ SANGHI, SANGEETA RAVAT

Last modified: 2018-09-09

Abstract


Hereditary sensory autonomic neuropathy is a rare form amongst hereditary neuropathies. HSAN types 1 to 5 were well defined genetically but in recent years rare genes were identified .We present a case of 7month old male baby born out of non consanguineous marriage, presented with  ulceration and defect of lower lip during teething and repeated scratching  and ulceration of body. Mother on enquiry told that baby didn’t cry during immunisation. She also gave history of decreased sweating all over body except over head and face. Clinically diagnosis of HSAN was suspected. Genetic study showed homozygous missense variation in exon 3 of PRDM12 gene which is expressed in nociceptive receptors and is critical for perception of pain and patient was diagnosed as HSAN VIII. This case represents rare variety of HSAN and only few cases are reported in literature yet. We could find only one case report of HSAN VIII in India. Management   remains supportive. however gene targeted therapy offers hope for future treatment options.


Keywords


HERIDITARY, SENSORY,AUTONOMIC,GENETICS

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