Hereditary Sensory and Autonomic Neuropathy V: A Case Report
Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated manifestations. This case report describes the case of a...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2023-06-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/18082/62445_CE[Ra1]_F(IS)_PF1(HJ_VI__IS)_PFA_NC(KM)_PN(KM).pdf |
| Summary: | Hereditary Sensory and Autonomic Neuropathy (HSAN) are a group of rare inherited disorders that comprises a varied set of disorders which mainly present with sensory dysfunction and deficits in autonomic functions, along with other associated manifestations. This case report describes the case of a four-year-old male child, who was referred to the department of Paediatric Neurology and Pedodontics due to loss of multiple teeth and drooling of saliva, coupled with multiple oral ulcers that worsened over time. During the assessment, sensory and autonomic abnormalities were observed, while the remaining systems were normal. Following a strong clinical suspicion and the involvement of a geneticist, a genetic analysis yielded the diagnosis of HSAN V. Given its rarity and varied presentation, reporting this case would help to open discussions on diagnostic and therapeutic dilemmas involved in treating these children, which usually comprises a multidisciplinary team, consisting mainly of dental and neurology departments. |
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| ISSN: | 2249-782X 0973-709X |