HEREDITARY SENSORY AUTONOMIC NEUROPATHY - A CASE REPORT
Abstract
ABSTRACT Hereditary Sensory Autonomic
Neuropathies (HSAN) are rare inherited
genetic disorders, affecting predominantly
the sensory system and to a
variable extent the autonomic nervous
system . It consists of 5 main sub-types
(type 1 to 5). Here we report two children
from a family who presented in their 2nd
decade with clinical features of sensory
changes manifesting in the form of multiple
painless ulcers, erosive lesions of
distal phalanges in toes, mutilating arthritis
, autonomic involvement in the form of
loss of sweating with relative preservation
of motor functions . Electro diagnostic
tests revealed absent Sensory Nerve
Action potentials (SNAPs) and normal
Compound muscle action potential
(CMAP s ). The mode of inheritance age
at onset , clinical phenotype were suggestive
of HSAN type 2.The aim of reporting
this rare disorder is to recognize
this disorder early so as to minimize the
disabling complications as there is no
treatment.
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