ICNC Abstracts, ICNC 2018

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Hereditary sensory and autonomic neuropathy(HSAN ) type IV in Jordan
amira masri

Last modified: 2018-09-09


To report on the phenotype and genotype of Jordanian patients with Hereditary sensory and autonomic neuropathy( HSAN IV  )


In this retrospective study we studied  all patients presenting to our pediatric neurology  clinic at Jordan university hospital  with the clinical diagnosis of HSAN IV   during the period from 2001-2017 .


Seven patients from five families were identified; four boys and three girls .The total follow up period   ranged from one month to 6 years .

The earliest symptom was high fever   in the first few days of life . Decreased sensation to pain and decreased sweating were noted in all patients  .Poor weight gain , microcephaly and global developmental delay were present in most cases  .All patients manifested tongue ulcerations . Fingers / toes ulcerations were  noted in  6/7 (86.0 %)   patients , hip  joint dislocation  in 3/7(43.0%)  patients,  chronic arthritis and joint swelling in 6/7(86.0%)  patients, corneal ulcers in  4/7(57.1%) patients , kidney  amyloidosis in1/7 (13.0%) patient. Death following a high fever occurred in  4/7(57.1%) patients


Consanguinity was present in all families. Genetic analysis revealed that the most common mutation in our series is c1926-1927ins T(p645fs). One patient has a  new mutation variant in  c.2170G>A, with similar clinical features though milder phenotype than   the previously known variants .

Conclusion This cohort reveals  a severe HSAN IV phenotype  necessitating thorough multidisciplinary care and  follow up.


CIPA ; HSAN IV ; insensitivity to pain ; children ; Jordan

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