Atypical Hereditary Sensory and Autonomic Neuropathy Type IV With Neither Mental Retardation Nor Pain Insensitivity

Jung, Chae Lim; Ki, Chang-Seok; Kim, Byoung Joon; Lee, Jong-Hyuck; Sung, Ki-Sun; Kim, Jong-Won; Park, Youn-Soo
December 2013
Journal of Child Neurology;Dec2013, Vol. 28 Issue 12, p1668
Academic Journal
Hereditary sensory and autonomic neuropathy type IV is an autosomal recessive disorder characterized by severe mental retardation and self-mutilation-related complications. Recently, we investigated a 16-year-old Korean boy with normal intelligence. He had preserved pain sensation but was suspected of having hereditary sensory and autonomic neuropathy type IV because of the recurrent bone fractures and painless joint destruction in the absence of any predisposing medical conditions. Genetic analysis of the NTRK1 gene revealed compound heterozygous mutations including c.851-33T>A and c.2303C>T (p.Pro768Leu) in the NTRK1 gene. The p.Pro768Leu mutation has been identified in 2 Japanese patients with a mild phenotype. Therefore, although it is rare, hereditary sensory and autonomic neuropathy type IV should be considered in patients with recurrent bone fractures and painless joint destruction who do not have any predisposing conditions even when they do not have typical clinical features such as mental retardation or pain insensitivity.


Related Articles

  • She feels no pain: A child with congenital insensitivity to pain and anhidrosis. Agrawal, Sanjay N.; Deshmukh, Yogeshree R.; Deshmukh, Manasi N. // Indian Journal of Paediatric Dermatology;Jul-Sep2015, Vol. 16 Issue 3, p146 

    The hereditary sensory and autonomic neuropathies encompass a number of inherited disorders that are associated with sensory dysfunction and varying degree of autonomic dysfunction. Hereditary sensory and autonomic neuropathy (HSAN) with anhidrosis type IV is the second most common form of...

  • Neuropathic Osteoarthropathy in a Patient with Congenital Insensitivity to Pain. Mobini, M.; Javadzadeh, A.; Forghanizadeh, J. // Archives of Iranian Medicine (AIM);Nov2009, Vol. 12 Issue 6, p599 

    This report describes a 23-year-old man who presented with multiple joint deformities as a consequence of multiple painless intra-articular fractures. Blood counts, biochemistry, and nerve conduction velocity were all normal. X-ray studies showed joint destruction in hips, elbows and knees. We...

  • Congenital Insensitivity to Pain with Anhidrosis in an Iranian Patient. Saleh-gohari, Nasrollah; Mohammadi-Anaie, Marzye // Basic & Clinical Neuroscience;Winter2013, Vol. 4 Issue 1, p88 

    Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to...

  • Recurrent Digital Infections and Osteomyelitis in Monozygotic Twins With Congenital Analgesia and Compulsive Onychophagia. Iorio, Matthew L.; Barbour, John R. // Journal of Child Neurology;Jul2014, Vol. 29 Issue 7, p962 

    Congenital insensitivity to pain is a rare sensory neuropathy that manifests with multiple and recurrent injuries secondary to a lack of negative pain stimuli. When present with compulsive onychophagia, prompt recognition and behavioral management to prevent chronic digital infection or...

  • Can loss of muscle spindle afferents explain the ataxic gait in Riley–Day syndrome? Macefield, Vaughan G.; Norcliffe-Kaufmann, Lucy; Gutiérrez, Joel; Axelrod, Felicia B.; Kaufmann, Horacio // Brain: A Journal of Neurology;Nov2011, Vol. 134 Issue 11, p3198 

    The Riley–Day syndrome is the most common of the hereditary sensory and autonomic neuropathies (Type III). Among the well-recognized clinical features are reduced pain and temperature sensation, absent deep tendon reflexes and a progressively ataxic gait. To explain the latter we tested...

  • Twenty-one Years with Congenital Insensitivity to Pain. Lad, Dnyanesh G.; Khaleel, V. M. // Case Connector;2012, Vol. 2 Issue 4, p1 

    The article presents a case study of a right-handed man admitted at the age of eleven years in 2002 diagnosed with hereditary sensory and automatic neuropathy (HSAN) Type IV. He developed increased swelling in both knees, associated with a painless limp. The patient was diagnosed with congenital...

  • Technique for methyl methacrylate cranioplasty to optimize cosmetic outcome. Sorour, Mohammad; Caton, William; Couldwell, William // Acta Neurochirurgica;Jan2014, Vol. 156 Issue 1, p207 

    Background: Cranioplasty aims to reconstruct skull defects from fractures, decompressive craniectomies, tumors, and congenital anomalies in a cosmetically acceptable manner. We present a technique in methyl methacrylate cranioplasty that gives excellent cosmetic results by maintaining patient's...

  • Ask the doctor. Phelps, Kerryn // Australian Women's Weekly;May2014, Vol. 84 Issue 5, p153 

    The article presents questions and answers related to medical issues including one on acute sensory neuropathy, on prickly heat spots during perimenopause and the effects of removing a gall bladder.

  • Effects of light fingertip touch on postural responses in subjects with diabetic neuropathy. Dickstein, R.; Peterka, R.J.; Horak, F.B. // Journal of Neurology, Neurosurgery & Psychiatry;May2003, Vol. 74 Issue 5, p620 

    Objectives: To investigate the potential benefits from lightly touching an external supporting device on automatic postural responses to support surface translations, in subjects with profound sensory neuropathy in the feet due to diabetes mellitus (DM-PN).Methods:...


Read the Article


Sign out of this library

Other Topics