ICNC Abstracts, ICNC 2018

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A case series of hereditary sensory autonomic neuropathy in children
Renu Suthar, Hansa Shree Padmanabha, Arushi Gahlot Saini, Jitendra K Sahu, Bhavneet Bharti, Naveen Sankhyan, Ingo Kurth, Pratibha Singhi

Last modified: 2018-09-09

Abstract


Objective: Hereditary sensory autonomic neuropathy (HSAN) is a rare disorder caused by mutations affecting the small myelinated and unmyleinated neurons. Method: Case series describing 5 cases of HSAN.Results:Case1. A 9 year old girl with developmental delay, self mutilation, absence of pain and temperature perception, microcephaly, retinitis pigmentosa, chronic non healing ulcers with auto-amputation of all the fingers diagnosed as HSAN 4. A compound heterozygous miss-sense mutation in the FLVCR1 gene was identified.Case 2. A 3 year old girl, presented with several episodes of burns and corneal ulcers, hypertension, bilateral corneal ulcers, mutilated fingers and absence of pain and temperature perception. Heterozygous mutation in NTRK1 gene was noted.Case 3: A 9 year old developmentally normal boy presented with painless nonhealing ulcers at heels, with recurrent episodes of pain abdomen and vomiting with areflexia, absence of pain, temperature and vibration perception.Case 4: A 2.5 year adopted old girl presented with failure to thrive, abdominal distention, constipation and burn scars. Hyperkeratotic scars, fracture of right femur, multiple burn scars and absence of pain perception were noted. Heterozygous mutation in DST1 gene as detected.Case 5: A 2year old boy presented with global developmental delay and insensitivity to pain and temperature since early infancy. Mutilated lower lip, and absent pain and temperature perception was noted. A homozygous splice site mutation in the PRDM12 gene was detected.Conclusion: Diagnosis of HSAN is delayed because of variable presentation. Developmental delay, self mutilation, non healing ulcers and auto-amputation are the characteristic features.

Keywords


HSAN; Pain; temperature; ulcers; mutilation

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