Results 1 to 10 of about 744 (162)

Cardiac arrest after anesthetic management in a patient with hereditary sensory autonomic neuropathy type IV

Saudi Journal of Anaesthesia, 2011
Hereditary sensory autonomic neuropathy type IV is a rare disorder with an autosomal recessive transmission and characterized by self-mutilation due to a lack in pain and heat sensation.
Ergül Yakup, Ekici Baris, Keskin Sabiha   +2 more
doaj   +5 more sources

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

Journal of Medical Case Reports, 2017
Background Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela   +5 more
doaj   +2 more sources

Hereditary Sensory and Autonomic Neuropathy V: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2023
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 ...
GK Pallavi Urs, Gaurav M Urs, Varsha V Hebbar, Vibha Konanur   +3 more
doaj   +1 more source

Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis

Indian Journal of Paediatric Dermatology, 2021
Hereditary sensory and autonomic neuropathy is a rare syndrome characterized by congenital insensitivity to pain, temperature changes, and an autonomic nerve formation disorder. We report an 8-year-old boy who presented with late-onset of self-mutilating
Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar   +3 more
doaj   +1 more source

Glycogen synthase kinase 3ß functions as a positive effector in the WNK signaling pathway. [PDF]

PLoS ONE, 2018
The with no lysine (WNK) protein kinase family is conserved among many species. Some mutations in human WNK gene are associated with pseudohypoaldosteronism type II, a form of hypertension, and hereditary sensory and autonomic neuropathy type 2A.
Atsushi Sato, Hiroshi Shibuya
doaj   +1 more source

Ophthalmic manifestation of Hereditary Sensory and Autonomic Neuropathy – Five-year follow up

Indian Journal of Ophthalmology. Case Reports, 2022
Hereditary Sensory and Autonomic Neuropathy (HSAN) is a rare genetic disorder that usually begins in childhood. It is associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception).
Praveen Dhanapal, Niharika Chaurasia, Anupreeti Jain   +2 more
doaj   +1 more source

A rare case of congenital corneal anesthesia

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023
A 12-year-old male, who had a history of trauma in his right eye at 2 years of age, presented to the clinic with diminution of vision and whitish discoloration in his right eye.
Kunj Naik, Aditya Ganesh Garlapati, Shailaja Anand, Renu Magdum, Nilay Dhore   +4 more
doaj   +1 more source

A rare case of hereditary sensory and autonomic neuropathy type II

Clinical Case Reports, 2023
We describe the follow‐up of a 29‐year‐old man diagnosed with hereditary sensory and autonomic neuropathy type II, including the different complications that presented since his childhood.
Elmira Mamytova, Asel Jusupova, Anara Toktomametova, Kunduz Karbozova, Begimay Kadyrova, Yethindra Vityala, Tugolbai Tagaev   +6 more
doaj   +1 more source

Anesthetic management of a child with congenital insensitivity to pain with anhidrosis: A case report

Frontiers in Surgery, 2022
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disease classified as hereditary sensory and autonomic neuropathy type VI. Patients with CIPA are characterized by insensitivity to pain, episodes of unexplained fever,
Ying Zhang, Zhiyu Geng
doaj   +1 more source

Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages

Annals of Clinical and Translational Neurology, 2022
Objective To determine the sensitivity and specificity of cutaneous amyloid deposition in relation to patient‐reported measures in the earliest disease stage of hereditary ATTR amyloidosis (ATTRv).
Roy Freeman, Alejandra Gonzalez‐Duarte, Fabio Barroso, Marta Campagnolo, Sharika Rajan, Jennifer Garcia, Jee Young Kim, Ningshan Wang, Lucas Orellana, Christopher Gibbons   +9 more
doaj   +1 more source