Hereditary sensory autonomic neuropathy Type IV.
نویسندگان
چکیده
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.
منابع مشابه
Hereditary sensory and autonomic neuropathy: A case report
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...
متن کاملHereditary sensory and autonomic neuropathy type IV.
Several types of hereditary sensory and autonomic neuropathies (HSAN) are reported in literatures. We describe here a case of type IV HSAN, the second commonest variety of HSAN and attempt to present a short review of literature. Families of these children need support, proper guidance and counseling for taking better care of the diseased. The goal should be to help them achieve independent fun...
متن کاملHereditary Sensory Autonomic Neuropathy Type IV in a Newborn
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. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. These patients usually present in late infancy. Here we...
متن کاملDysphagia in hereditary sensory autonomic neuropathy type IV.
There has been tremendous progress in the detection and diagnosis of hereditary neuropathies and while the genes responsible for these rare neuropathies have improved our understanding of the development of the sensory system, they remain clinical enigmas with rare occurrences and diverse presentations. In 1963, Swanson first described two brothers with congenital insensitivity to pain, anhidro...
متن کاملSyndromic Vignettes in Anaesthesia
ably affects development, as well as maintenance of neurons, because there is neuropathological and clinical progression. Inherited autonomic neuropathies are a rare group of disorders associated with sensory dysfunction. As a group they are termed the "hereditary sensory and autonomic neuropathies" (HSAN). Classification of the various autonomic and sensory disorders is ongoing. Phenotypic exp...
متن کاملCan loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Indian pediatrics
دوره 42 3 شماره
صفحات -
تاریخ انتشار 2005