ICNC Abstracts, ICNC 2018

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Clinical profile of three children with HSAN type 4 from South India
Beena Suresh, Beena Suresh, Sujatha Jagadeesh

Last modified: 2018-09-09

Abstract


Hereditary sensory and autonomic neuropathy type IV (HSAN IV), also called as congenital insensitivity to pain with anhidrosis (CIPA) or Nishida syndrome is an autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis , absence of reaction to noxious stimuli, self-mutilating behavior and mental retardation. HSAN IV is due to the absence of afferent neurons activated by tissue-damaging stimuli. Nerve growth factor (NGF) supports the survival of nociceptive sensory and autonomic sympathetic neurons as well as cholinergic neurons of the basal forebrain. Defects in NGF signal transduction at its receptor leads to failure of neuronal  survival. Autonomic dysfunction leads to manifestations like anhidrosis and fever We present the major clinical features of three children with HSAN 4 who presented to us.

These children usually have been reported with developmental delay in literature but in our series two of the three children have normal intelligence.The presenting symptom in all three children were recurrent fever, two children presented with self mutilation while the third child presented with recurrent corneal ulcers. Nerve conduction studies were normal.Therefore HSAN type 4 should be a differential diagnosis when a child presents with self mutilation, painless  neuropathic corneal ulcers and anhidrosis.


Keywords


self mutilation;anhidrosis

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