Hereditary sensory neuropathy is a unusual disease which is charcterized by mutilating acropathy with cutaneous sensory loss and complete absence of sensory apparatus. We experienced a case of bereditary sensory neuropathy Type 2.
Hereditary Sensory and Autonomic Neuropathies

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disease, which affects a patient's pain sensation and thermoregulation. There are several anesthetic considerations for those with this disorder. We anesthetized a patient with CIPA for an orthopedic operation by volatile induction and maintenance with sevoflurane. We discuss a safe anesthetic management for patients with CIPA.
Body Temperature Regulation ; Hereditary Sensory and Autonomic Neuropathies* ; Humans ; Orthopedics ; Pain Insensitivity, Congenital* ; Sensation

A 38-year-old Korean man was diagnosed with hereditary sensory and autonomic neuropathy (HSAN) type 2 because of his chronic sensory neuropathy and progressive acro-mutilation. Genetic analysis revealed that he was a compound heterozygous for two novel mutations in the HSN2 gene including a nonsense mutation (Gln73X) and a 1-bp insertion mutation (Asp379fsX1). To our knowledge, this is the first report of a genetically confirmed case of HSAN type 2 in the Asian population and supports the genetic homogeneity of this rare disease.
Adult ; Asian Continental Ancestry Group ; Codon, Nonsense ; Hereditary Sensory and Autonomic Neuropathies ; Humans ; Mutagenesis, Insertional ; Rare Diseases

Adolescent ; Female ; Hereditary Sensory and Autonomic Neuropathies ; surgery ; Humans ; Hypohidrosis ; surgery ; Pain ; Spine ; surgery

Acro-Osteolysis ; etiology ; Child ; Follow-Up Studies ; Hereditary Sensory and Autonomic Neuropathies ; complications ; Humans ; Male

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary sensory and autonomic neuropathy. CIPA is characterized by inability to sweat, insensitivity to pain, self-mutilation, recurrent episodes of hyperpyrexia, mental retardation, and autonomic nervous system abnormality. Patients with CIPA may undergo surgery because of susceptibility to trauma, bony fracture and osteomyelitis due to insensitivity to pain. We report a child who had undergone anesthesia with total intravenous anesthesia. The anesthetic management of this condition is discussed.
Anesthesia ; Anesthesia, Intravenous ; Autonomic Nervous System ; Child* ; Hereditary Sensory and Autonomic Neuropathies* ; Humans ; Intellectual Disability ; Osteomyelitis ; Pain Insensitivity, Congenital* ; Propofol ; Sweat

Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.
Axonal Transport ; Hereditary Sensory and Autonomic Neuropathies ; Hereditary Sensory and Motor Neuropathy ; Humans ; Neurodegenerative Diseases ; Neurons ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Phenotype ; Signal Transduction ; Wills

No abstract available.
Adult ; Arthritis, Rheumatoid/*complications/diagnosis ; Female ; Hand/pathology ; Hereditary Sensory and Autonomic Neuropathies/*complications/diagnosis ; Humans ; Rheumatoid Factor/blood

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal-recessive disorder characterized by the clinical triad of indifference of pain, anhidrosis and heat intolerance.Because of their lack of autonomic response to noxious stimuli, the determination of adequate depth of anesthesia in the CIPA patient undergoing surgery is a major challenge.We experienced a patient with CIPA who had minor procedures three times under the general anesthesia, in which bispectral index (BIS) was maintained at 40-50 by adjusting sevoflurane concentrations with 50% nitrous oxide.The low end-tidal sevoflurane concentrations (<1.2 vol%) were required to keep the target BIS while vital signs remained stable throughout the surgery in each operation.BIS monitor may be a valuable tool to guide the depth of anesthesia in patients with CIPA.
Anesthesia ; Anesthesia, General ; Hereditary Sensory and Autonomic Neuropathies ; Hot Temperature ; Humans ; Hypohidrosis ; Indoles ; Methyl Ethers ; Organothiophosphorus Compounds ; Propionates ; Vital Signs

The hereditary sensory neuropathy is a very rare disease characterized by prominent sensory loss without corresponding motor involvement, but may be associated with autonomic features. Currently, the disease is divided into five main types and most frequent are Type I and Type II. The type II hereditary sensory neuropathy is characterized by autosomal recessive inheritance, onset in utero or in infancy, loss of touch-pressure sense more than paintemperature sense, and almost total absence of myelinated nerve fibers. In this case, we describe a 23 years old female patient with acroosteolysis and heel ulcer who was diagnosed as hereditary sensory neuropathy type II.
Acro-Osteolysis* ; Female ; Heel ; Hereditary Sensory and Autonomic Neuropathies* ; Humans ; Nerve Fibers, Myelinated ; Rare Diseases ; Ulcer ; Wills ; Young Adult