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

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 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

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 anhidrosies (CIPA) is one of the exceedingly rare hereditary sensory autonomic neuropathies (HSAN). There are five types of HSAN according to hereditary transmission, natural history, clinical manifestations, and pathologic findings. The CIPA corresponds to type IV and is characterized by episodes of recurrent fever with generalized anhidrosis, insensitivity to pain and temperature with self-multilation, and mental retardation. We report a 14 month old girl with the clinical symptoms and neuropathological findings of CIPA without family history. She presented with episodes of recurrent fever and self-mutilation of her tongue. Clinical, laboratory and pathologic aspects of this patient are discussed along with review of the literature.
Female ; Fever ; Hereditary Sensory and Autonomic Neuropathies* ; Humans ; Hypohidrosis ; Infant ; Intellectual Disability ; Natural History ; Pain Insensitivity, Congenital* ; Tongue

We experienced a case of congenital insensitivity to pain with anhidrosis mimicking a chronic osteomyelitis of the talus, with recurrent ankle swelling and intermittent fever. He was misdiagnosed as low virulence osteomyelitis at other hospital in annual recurrence for 3 years. A Charcot joint in children is a very rare condition and diagnosis should be made in a careful approach.
Animals ; Ankle ; Ankle Joint ; Arthropathy, Neurogenic ; Child ; Fever ; Hereditary Sensory and Autonomic Neuropathies ; Humans ; Hypohidrosis ; Osteomyelitis ; Recurrence ; Talus