Last modified: 2018-09-09
Abstract
Introduction: Hereditary Sensory and Autonomic Neuropathy Type-VII (HSAN-VII) is a rare autosomal dominant genetic condition characterized by inability to feel pain, hyperhydrosis & gastrointestinal dysfunction. We are presenting 2 sisters with HSAN-VII.
Case description: A 9 year old girl presented with c/o absent sweating & tears formation, hyperpyrexia, heat intolerance. She had feeding difficulty & joint pain, No H/o self mutilation/ Fractures/GERD/repeated LRTI/vision/hearing problem. Her younger sister aged 6 years also has similar complaints. No other family members affected. Birth/Developmental-Uneventful. Both sisters had BP-normal, skin-dry, tongue papillae+, No dysmorphic features. Apart from absent response to pain sensation, rest CNS & other systems examination found normal.
Investigations revealed Normal Vision & Hearing, EMG/NCV showed absent sympathetic skin response s/o small fiber neuropathy. Next-Gen Sequencing (NGS) in SCN11A Gene Mutation found Positive in both sisters & father but Negative in mother. Father is asymptomatic. Both sisters managed symptomatically with prevention of injuries & infections, skin & dental care, avoidance of hot-cold showers, antipyretics for fever. Regular follow up advised.
Discussion: HSAN-VII present with pain insensitivity, hyperhydrosis, dysautonomia & gastrointestinal dysfunction. Symptoms usually present since birth. But our both cases have hypohydrosis with no skin ulcers/fractures/developmental delay. Father is also positive for SCN11A gene mutation but asymptomatic. As the disorder is incurable only supportive treatment can be offered.
Conclusion: Early recognition, prevention of accidental injuries, treatment of gastrointestinal & orthopedic problems & regular follow up could be useful in reducing frequency and severity of complications in HSAN-VII.