No abstract available.
Diagnosis ; Extremities ; Muscular Atrophy

Diagnosis, Differential ; Humans ; Infant ; Male ; Muscular Atrophy, Spinal ; diagnosis

Since Jaffe first described osteoid osteoma in 1935, it has become a well recognized clinical and pathological entity. The clinical picture is characteristic, the roentgenographic features are usually distinctive, and the pathological findings are unmistakable. Osteoid osteoma is curable by surgical excision. Often, however, a presumtive diagnosis and roentgenographic features, but surgical exploration fails to uncover the nidus. We reported a case of typical pathological specimen, roentgenographic picture and unusual clinical records with long duration and marked muscle atrophy which was hardly differentiated from herniated intervertebral disc or other spinal cord lesions.
Diagnosis ; Intervertebral Disc ; Muscular Atrophy ; Osteoma, Osteoid ; Spinal Cord

PURPOSE: The aim of this study was to describe the dynamic changes of the cervical dural sac and the spinal cord during neck flexion in patients suffering from Hirayama's disease and to present the usefulness of flexion MR study for the diagnosis. MATERIALS AND METHODS: Seven consecutive male patients (age ranging 17-43 years, mean age 23.7 years) with the clinical diagnosis of Hirayama's disease and 5 healthy subjects (aged 25-32 years) for controls had done cervical MRI from January 2001 through June 2002. Cervical MRI was done in neutral and neck flexed positions using 1.5 T system (Sonata, Siemens, Germany) and obtained images were reviewed by two radiologists. We compared the cervical MRI findings of 7 patients with those of 5 healthy controls regarding neck flexion induced changes in the lower cervical segments. RESULTS: Neutral positioned cervical sagittal MR images revealed subtle or mild cord atrophy in only 2 patients. On maximal neck flexion, AP diameter of the cresent posterior epidural space was increased and also cord flattening with anterior shifting of posterior wall of the lower cervical dural canal was noted in all 7 patients. In all 7 cases, the level and side of spinal cord changes corresponded to the clinical phenotype. All control subjects showed neither cord flattening nor widening of posterior epidural space on neck flexion. CONCLUSION: In patients with the clinical diagnosis of Hirayama's disease, MRI scans obtained on maximal neck flexion showed characteristically dynamic flattening of lower cervical cord and widening of posterior epidural space. Therefore, a flexion MR study is needed to prove the diagnosis.
Atrophy ; Diagnosis ; Epidural Space ; Humans ; Magnetic Resonance Imaging* ; Male ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Neck ; Phenotype ; Spinal Cord ; Spinal Muscular Atrophies of Childhood* ; Upper Extremity*

High-resolution (HR) ultrasound, which has been progressing continuously in technology, has improved in aspect of spatial and contrast resolution. The HR ultrasonography is a noninvasive, readily applicable imaging technique, which could get static and dynamic image in real-time for various neuromuscular disorders, especially in entrapment neuropathy. It is also a reliable tool to detect dynamic muscle movements such as fasciculation as well as muscle atrophy in chronic myopathies or neuropathies. Although reliability of the HR ultrasonography has not been investigated in large series of patients, different neuromuscular disorders tend to show specific changes on the ultrasound, which can be helpful in differential diagnosis. The HR ultrasonography is an ideal tool for the clinical and research investigation of neuromuscular system complementary to electrodiagnostic studies. This review briefly describes applicability for various neuromuscular disorders with previous study results and the technical aspects of ultrasound and its physical principles.
Diagnosis, Differential ; Fasciculation ; Humans ; Muscles ; Muscular Atrophy ; Muscular Diseases ; Nerve Compression Syndromes

PURPOSE: We report the clinical findings and surgical results of congenital fibrosis of extraocular muscles in a 5-year-old boy. METHODS: For a 5-year-old boy diagnosed with congenital fibrosis of extraocular muscles, we performed myectomy with disinsertion of both lateral rectus muscles and inferior rectus muscles and the conjunctival recession. We checked the position and motility of the eyeball before and after the operation, computerized tomography(CT) preoperatively, and the muscle biopsy postoperatively. RESULTS: In a 5-year-old boy complaining of blepharoptosis and ophthalmoplegia of both eyes from birth, and gaze limitation in all direction except abduction, atrophy of the extraocular muscles was found in CT. After myectomy with disinsertion of both lateral rectus muscles and inferior rectus muscles and conjunctival recession, the eyeball position improved but lower eyelid retraction occurred. The biopsy of the inferior rectus muscle confirmed the diagnosis of fibrosis of extraocular muscles. CONCLUSIONS: Congenital fibrosis of extraocular muscles shows ophthalmoplegia and blepharoptosis from birth. With clinical findings, extraocular muscle atrophy in CT is a useful finding in diagnosis. In treatment, extraocular muscle recession or disinsertion can be done but the treatment of postoperative lower lid retraction is required. Treatment of combined blepharoptosis can also be required.
Atrophy ; Biopsy ; Blepharoptosis ; Child, Preschool ; Diagnosis ; Eyelids ; Fibrosis* ; Humans ; Male ; Muscles* ; Muscular Atrophy ; Ophthalmoplegia ; Parturition

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by progressive anterior horn cell degeneration leading to motor weakness, muscular atrophy and denervation. Recently, the genes responsible for proximal muscular atrophy have been identified and named as survivor motor neuron (SMN) and neuronal apoptosis inhibitory protein genes. The clinical symptoms, courses and evaluation findings of proximal SMA type III are similar to those of distal SMA and proximal muscle myopathies such as limb gir-dle muscular dystrophy and fascioscapulohumeral muscular dystrophy. It cannot be diagnosed with muscle biopsy and electromyographic findings exclusively. In our case, the patient showed similar clinical manifestations of distal SMA. So we couldn't diagnose this case as SMA type III until we detected SMN 1 gene deletion. This case could be a good model for diagnostic approach to SMA type III and differential diagnosis to similar diseases.
Anterior Horn Cells ; Atrophy ; Biopsy ; Denervation ; Diagnosis, Differential ; Extremities ; Gene Deletion ; Humans ; Motor Neuron Disease ; Motor Neurons ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal* ; Muscular Diseases ; Muscular Dystrophies ; Neuronal Apoptosis-Inhibitory Protein ; Survivors

We reviewed the clinical, electrophysiological, radiological, and histopathological findings in 25 patients with benign focal amyotrophy. There were 14 patients with upper limb type and 11 with lower limb type. 18 patients had unilateral involvement and 7 had bilateral involvement asymmetrically. The characteristics clinical features were sporadic occurrence, predominance in young males, nonprogressive course or initial progression for 1 to 3 years followed by stationary state, segmental distribution of muscle weakness and atrophy localized to one limb or both homologous limbs markedly asymmetrically, and absence of any definite sensory loss or central nervous system involvement. The electrophysiological, radiological, and muscle histopathological findings suggested chronic focal anterior horn cell disease. Although the prevalence of this disease is still unknown, the importance of recognition is being emphasized because of its common occurrence in our country and the benign prognosis.
Adolescent ; Adult ; Age of Onset ; Electromyography ; Female ; Humans ; Male ; Muscular Atrophy/*diagnosis/physiopathology

Child ; Humans ; Muscular Atrophy, Spinal ; blood ; diagnosis ; Polymerase Chain Reaction ; methods

We present two cases of the patients with spinal muscular atrophy(SMA) confirmed by molecular genetic studies. The first one is 1-year-old female child with SMA type II(Dubowitz disease) who visited pediatric outpatient for developmental delay. She presented lower extremity hypotonia which progress to upper extremities and inability to sit alone. Spinal cord MRI showed normal findings but the needle electromyography suggested the possibility of myopathy. Following muscle biopsy findings were consistent with spinal muscular atrophy and PCR-SSCP(polymerase chain reaction-single strand conformation polymorphism) analysis showed homozygous deletion of telomeric SMN(survivor motor neuron) exon 7. The second is a 19-year-old female with SMA type III(Kugelberg-Welander disease) who visited neurologic outpatient for limbs weakness. She presented slowly progressive gait disturbance without muscle atrophy. The significantly decreased motor power of proximal limbs was observed. And findings of electromyography and muscle biopsy were consistent with spinal muscular atrophy. PCR-SSCP analysis revealed homozyous deletion of exon 7 of telomeric SMN and deletion of exon 8 of centromeric SMN gene. PCR analysis for NAIP(neuronal apoptosis inhibitory protein) exon 5 and 13 revealed no deletion in both cases. Molecular genetic analysis for SMN gene will be very useful for rapid diagnosis of spinal muscular atrophy.
Apoptosis ; Biopsy ; Child ; Diagnosis ; Electromyography ; Exons ; Extremities ; Female ; Gait ; Humans ; Lower Extremity ; Magnetic Resonance Imaging ; Molecular Biology* ; Muscle Hypotonia ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Muscular Diseases ; Needles ; Outpatients ; Polymerase Chain Reaction ; Spinal Cord ; Upper Extremity ; Young Adult