how to cite this article: azadvari m, emami razavi sz, kazemi sh. hereditary sensory and autonomic neuropathy type iv in 9 year old boy: a case report. iran j child neurol. spring 2016; 10(2):83-85. abstract objective the hereditary sensory and autonomic neuropathy (hsan) is a rare group of neuropathies that affects the sensory and autonomic nervous system. the patients do not have the ability ...

A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...

Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and aut...

hereditary sensory and autonomic neuropathies (hsan) are clinically and genetically a heterogeneous group of disorders. there are overlapping variants of hsan regarding clinical manifestations and pathologic findings. five types of hsan have been described by dyck (1993) and there are two other types which have been introduced recently. we report four siblings that seem to suffer from symptomat...

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 the hypothesis that muscle spindles, or their afferents, are absent in hereditary sensory and autonomic neuro...

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 plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a l...

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 screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...

there are few reports about congenital indifference to pain or hereditary and sensory autonomic neuropathy (hsan). several investigations for pathophysiology of this syndrome have been performed and different classifications about it. in this report we present a case of hsan type ii with general absence of pain and self amputations and leprosy–like damage of extremities which was suspected to b...

Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diag...