1/6. Electromyographic mixed nerve and cutaneous silent period in evaluating the A-delta fibres in a patient with hereditary sensory-autonomic neuropathy.The aim of this study was to evaluate A-delta fibre function in a patient with hereditary sensory-autonomic neuropathy (HSAN). We used the mixed and cutaneous silent period techniques in addition to a conventional electromyographic investigation in a patient with type 2 HSAN, a rare disease characterised by wide-spread sensory and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons. Whereas the stimulation of one digital nerve did not show any evidence of silent period in either the left or the right hand, the simultaneous stimulation of two digital nerves, as well as the stimulation of a mixed nerve, revealed a measurable delayed and shortened silent period. These data suggest that a spatial summation mediated by A-delta fibres was required for generation of the silent period in this patient and that combining the CSP and MNSP may be of practical use in evaluating impairment of the small myelinated fibres.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/6. Congenital insensitivity of pain with anhidrosis.Congenital insensitivity to pain with anhidrosis is an autosomal recessive disorder included in a group of rare diseases termed as hereditary sensory-motor neuropathies. The diagnosis is made usually in early childhood period as most of the children present with recurrent unexplained hyperpyrexia. This case report is of a neonate who presented with tachypnea and fever on second day of life being treated for clinical sepsis and had no response to antibiotics. On pricking for i.v. canulation there was no cry, and temperature of the baby returned to normal on removing the covering blankets. Diagnosis was established by family history, skin and sural nerve biopsy. early diagnosis is important for prevention of injury, self mutilation and growth retardation. This case report points to the question that should assessment of pain sensation be a part of routine examination of newborn.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/6. Hereditary sensory neuropathy with spastic paraplegia.We report the case of a 4-year-old boy with hereditary sensory neuropathy manifesting as insensitivity to pain in all four limbs and associated with spastic paraplegia. The patient was referred with multiple injuries to his fingers suggestive of self-mutilation and attributed to psychiatric disturbance. Clinical examination corrected the diagnosis by revealing insensitivity to pain in all four limbs, associated with spastic paraplegia. The histamine test reaction was positive, nerve biopsy and electrophysiological investigations confirmed sensory nerve involvement and the diagnosis of hereditary sensory neuropathy. classification and treatment of such rare diseases is difficult and a multidisciplinary approach is often necessary.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/6. Hereditary sensory autonomic neuropathy Type IV.Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature, therefore, resulting in self mutilation. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. The clinical presentation of two children with this rare disease is described.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/6. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)Congenital insensitivity to pain with anhidrosis (CIPA, hereditary sensory and autonomic neuropathy type IV) is an exceedingly rare disease. Only 31 cases have been reported. We report a 4-year-old girl with CIPA and include a complete review of the literature. CIPA is a severe autosomal recessive condition that leads to self-mutilation in the first months of life and to bone fractures, multiple scars, osteomyelitis, joint deformities, and limb amputation as the children grow older. Mental retardation is common. death from hyperpyrexia occurs within the first 3 years of life in almost 20% of the patients. Ultrastructural and morphometric studies of the peripheral nerves demonstrate a loss of the unmyelinated and small myelinated fibers. The actual physiopathologic mechanism of this developmental disorder remains unknown.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/6. Hereditary sensory and autonomic neuropathy type I (Thevenard's disease).Radiographic and MR findings of two cases of hereditary sensory and autonomic neuropathy type I are reported. This rare disease has a non-specific radiographic and MR appearance. Differential diagnosis includes other types of hereditary and acquired sensory neuropathies affecting small myelinated and unmyelinated nerve fibers, as well as vascular abnormalities and lesions of the spinal cord.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |