| CASE REPORT |
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| Year : 2012 | Volume
: 15
| Issue : 2 | Page : 134-136 |
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A case of hereditary sensory autonomic neuropathy type IV
GP Prashanth1, Mahesh Kamate2
1 Department of Pediatrics, SDM College of Medical Sciences and Hospital, Dharwad, Karnataka, India
2 Child Development Clinic, KLE University's JN Medical College, Belgaum, Karnataka, India
Correspondence Address:
G P Prashanth
Department of Pediatrics, SDM College of Medical Sciences and Hospital, Sattur, Dharwad-580 009, Karnataka
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0972-2327.94999
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Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation. Developmental delay and mental retardation are usually present. Ultrastructural study of the peripheral nerves demonstrates loss of the unmyelinated and small myelinated fibers. We here report a 8 year -old boy with HSAN IV with typical clinical features where the diagnosis was supported by nerve biopsy findings. However, our case was unusual since mental development was normal. |
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