DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20180579

Hereditary sensory autonomic neuropathy type V: a rare case report

Madhura S., Sowrabha ., Manjunath ., Savitha M. R.

Abstract


Hereditary sensory autonomic neuropathy (HSAN) type V is a rare autosomal recessive condition caused by mutation in neurotrophic tyrosine kinase receptor type 1 gene located on chromosome 1 (1q21-1q22). It is characterized by pain insensitivity, partial anhydrosis without mental retardation and unimpaired touch and pressure sensitivity. Self-mutilation injury involving teeth, lips, tongue, ears, eyes, nose and fingers are invariable feature of this disorder. This rare disorder can be extremely challenging for the physicians as the symptoms like pain, tenderness is absent and hence most of the symptoms and injuries are frequently missed. Here we report a case of 1-year old female child with HSAN type V, having the typical clinical manifestations of pain insensitivity causing self-mutilation. Apart from the classical manifestations of HSAN type V, our case also had bilateral corneal opacity.


Keywords


Congenital insensitivity to pain, Corneal opacity, Hereditary sensory autonomic neuropathy

Full Text:

PDF

References


Nagasako EM, Oaklander AL, Dworkin RH. Congenital insensitivity to pain: an update. Pain. 2003;101(3):213-9.

Sasnur AH, Sasnur PA, Ghaus-Ul RS. Congenital insensitivity to pain and anhidrosis. Indian J Orthop. 2011;45:269-71.

Swanson AG. Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings. Arch Neurol.1963;8:299-306.

Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, et al. A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol. 2001;49:521-5.

Carvalho OP, Thornton GK, Hertecant J, Houlden H, Nicholas AK, Cox JJ, et al. A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy. J Med Genet. 2011;48:131-5.

Einarsdottir E, Carlsson A, Minde J, Toolanen G, Svensson O, Solders G, et al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet. 2004;13:799-805.

Narayanan V. Oral and maxillofacial manifestations of hereditary sensory neuropathy. Br J Oral Maxillofac Surg.1996;34:446-9.

Jacob A, Sarada C, Thomas SV. Painless injuries in a child: Hereditary sensory and autonomic neuropathy. Ann Indian Acad Neurol. 2006;9:39-41.

Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996;13:485-8.

de Andrade DC, Baudic S, Attal N, Rodrigues CL, Caramelli P, Lino AM, et al. Beyond neuropathy in hereditary sensoryand autonomic neuropathy type V: Cognitive evaluation. Eur J Neurol. 2008;15:712-9.

Prashanth GP, Kamate M. A case of hereditary sensory autonomic neuropathy type IV. Ann Indian Acad Neurol. 2012;15:134-6.