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STIFF PERSON: PEDIATRIC CASE REPORT
Last modified: 2014-04-03
Abstract
Introduction
Stiff-person syndrome (SP) is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and painful spasms involving the axial muscles and proximal portion of lower limbs, resulting in severely impaired ambulation. Phenomena may occur with dysatonomic manifestations
In some occasions it is associated with type 1 diabetes mellitus, or Myasthenia Gravis, showing a pathogenetic features in common.
The diagnosis is usually late, confirmed by the presence of continuous activity of motor unit in paraspinal muscles and in lower limbs in the EMG.
SP presents favorable response to symptomatic and immunomodulatory treatment.
Purpose:
We described a patient with clinical and neurophysiological diagnosis of Stiff Person Syndrome detailing the evolution, their clinical characteristics and treatment.
Material and methods:
A healthy 13-year-old boy, who started acutely with stiffness, rigidity, hypertonia, painful spams and dysatonomic phenomena.
Results:
We found activity of continuous motor unit in EMG /neuromyotonia that affects the muscles of both proximal and distal limbs. Mild sensory and motor polyradiculopathy. Post-synaptic neuromuscular transmission compromise. CK 1900 IU/l. Antibodies antiperoxidase positive, high levels of TSH, and antibodies anti GAD positive in CSF, negative in blood. Antibodies antichannel of potassium negative in blood and CSF. Other studies were negative discarding paraneoplastic syndrome and other autoimmune diseases. Normal brain and spinal cord MRI.
We started treatment with intravenous pulses of gamma globulin and oral carbamazepine with good response.
Conclusions
The diagnosis of this rare autoimmune variant of the disease allowed the establishment of appropriate therapy.
Early recognition and initiation of treatment resulted in notorious improvement.
Stiff-person syndrome (SP) is an uncommon disorder characterized by progressive muscle stiffness, rigidity, and painful spasms involving the axial muscles and proximal portion of lower limbs, resulting in severely impaired ambulation. Phenomena may occur with dysatonomic manifestations
In some occasions it is associated with type 1 diabetes mellitus, or Myasthenia Gravis, showing a pathogenetic features in common.
The diagnosis is usually late, confirmed by the presence of continuous activity of motor unit in paraspinal muscles and in lower limbs in the EMG.
SP presents favorable response to symptomatic and immunomodulatory treatment.
Purpose:
We described a patient with clinical and neurophysiological diagnosis of Stiff Person Syndrome detailing the evolution, their clinical characteristics and treatment.
Material and methods:
A healthy 13-year-old boy, who started acutely with stiffness, rigidity, hypertonia, painful spams and dysatonomic phenomena.
Results:
We found activity of continuous motor unit in EMG /neuromyotonia that affects the muscles of both proximal and distal limbs. Mild sensory and motor polyradiculopathy. Post-synaptic neuromuscular transmission compromise. CK 1900 IU/l. Antibodies antiperoxidase positive, high levels of TSH, and antibodies anti GAD positive in CSF, negative in blood. Antibodies antichannel of potassium negative in blood and CSF. Other studies were negative discarding paraneoplastic syndrome and other autoimmune diseases. Normal brain and spinal cord MRI.
We started treatment with intravenous pulses of gamma globulin and oral carbamazepine with good response.
Conclusions
The diagnosis of this rare autoimmune variant of the disease allowed the establishment of appropriate therapy.
Early recognition and initiation of treatment resulted in notorious improvement.
Keywords
myotonia. stiff person
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