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

Methods

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 .

Results

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.