Spastic paraparesis is caused by various etiologies such as autoimmune, infection, genetic and metabolic disorder. Adrenomyeloneuropathy (AMN) is very rare but one of important causes in spastic paraparesis. We experienced a patient presenting with adult-onset progressive spastic paraparesis, who was diagnosed as AMN with hemizygous c.431C>T (p.A144V), a novel mutation in exon1. The level of very long chain fatty acid should be included in diagnostic work-up for patients presenting with adult-onset progressive spastic paraparesis.
Adrenoleukodystrophy ; Humans ; Muscle Spasticity ; Paraparesis, Spastic

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.
Gap Junctions ; Humans ; Muscle Spasticity* ; Paraparesis, Spastic*

STUDY DESIGN: Literature review. OBJECTIVES: The aim of this study was to provide insight into idiopathic spinal cord herniation (ISCH) in terms of clinical presentation, pathophysiology, diagnosis, classification, and treatment. SUMMARY OF LITERATURE REVIEW: ISCH is a rare disorder characterized by anterior displacement of the spinal cord through a ventral dural defect. It has increasingly been recognized and described over the past 10 years. MATERIALS AND METHODS: Review of the English-language literature on ISCH. RESULTS: ISCH occurs in middle-aged adults with a female preponderance. The most common clinical presentation is Brown-Sequard syndrome, which can progress to spastic paraparesis. Its pathophysiology is unknown. However, some authors proposed that inflammation may play an important role in the emergence of a dural defect. Magnetic resonance imaging typically shows an anterior kink of the thoracic spinal cord with an obliteration of the ventral subarachnoid space and the widened dorsal subarachnoid space. Surgery is generally recommended for patients with motor deficits or progressive neurological symptoms. The posterior approach has been used because it allows wide exposure of the spinal cord. The surgical treatment of ISCH consists of spinal cord reduction from the ventral dural defect, which can be managed with enlargement, direct repair, or duraplasty (dural repair with a patch). In recent years, duraplasty has been used more frequently than enlargement of the dural defect. CONCLUSIONS: ISCH causing thoracic myelopathy could be safely treated with surgical management. The possibility of this disease should be kept in mind when treating patients with progressive myelopathy.
Adult ; Brown-Sequard Syndrome ; Classification ; Diagnosis ; Female ; Humans ; Inflammation ; Magnetic Resonance Imaging ; Paraparesis, Spastic ; Spinal Cord Diseases ; Spinal Cord* ; Subarachnoid Space

Intracranial dural arteriovenous fistula (dAVF) usually results in various problems in the brain. But it can be presented as a myelopathy, which may make early diagnosis and management to be difficult. We recently experienced a case of cervical myelopathy caused by intracranial dAVF. A 60-year-old man presented with a 3-year history of gait disturbance due to a progressive weakness of both legs. Neurological examination revealed spastic paraparesis (grade IV) and Babinski sign on both sides. Magnetic resonance imaging showed serpentine vascular signal voids at C2-T1 on T2-weighted image with increased signal intensity and swelling of spinal cord at C1-C4. We performed a brain computed tomography angiography and found intracranial dAVF with multiple arteriovenous shunts. Venous drainages were noted at tentorial veins and cervical perimedullary veins. After Onyx embolization, the patient showed gradual improvement in motor power and gait disturbance. The venous drainage pattern is a well-known prognostic factor of dAVF. In our case, the intracranial dAVF drained to spinal perimedullary vein, which seemed to result in the ischemic myelopathy. Although it is rare condition, it sometimes can cause serious complications. Therefore, we should keep in mind the possibility of intracranial dAVF when a patient presents myelopathy.
Angiography ; Arteriovenous Fistula ; Brain ; Central Nervous System Vascular Malformations* ; Drainage ; Early Diagnosis ; Gait ; Humans ; Ischemia ; Leg ; Magnetic Resonance Imaging ; Middle Aged ; Neurologic Examination ; Paraparesis, Spastic ; Reflex, Babinski ; Spinal Cord ; Spinal Cord Diseases* ; Spinal Cord Ischemia ; Veins

Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunction. We experienced the AMN case of a 33-year-old man presenting bilateral progressive spastic paraparesis, impotence and urge incontinence with primary adrenal failures, as confirmed by increased serum of VLCFA concentrations. Considering that somatosensory evoked potentials in posterior tibial nerve was the only abnormal finding in electrophysiologic findings when compared with the severe spastic gait pattern shown, it is necessary to follow up with electrophysiologic studies.
Adrenal Insufficiency ; Adrenoleukodystrophy ; Erectile Dysfunction ; Evoked Potentials, Somatosensory ; Fatty Acids ; Gait Disorders, Neurologic ; Male ; Paraparesis, Spastic ; Peripheral Nervous System Diseases ; Peroxisomal Disorders ; Spinal Cord ; Tibial Nerve ; Urinary Incontinence, Urge

BACKGROUND AND PURPOSE: Galvanic vestibular stimulation (GVS) is a low-cost and safe examination for testing the vestibulospinal pathway. Human T-lymphotropic virus 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a slowly progressive disease that affects the vestibulospinal tract early in its course. This study compared the electromyographic (EMG) responses triggered by GVS of asymptomatic HTLV-1-infected subjects and subjects with HAM/TSP. METHODS: Bipolar galvanic stimuli (400 ms and 2 mA) were applied to the mastoid processes of 39 subjects (n=120 stimulations per subject, with 60 from each lower limb). Both the short latency (SL) and medium latency (ML) components of the EMG response were recorded from the soleus muscles of 13 healthy, HTLV-1-negative adults (56+/-5 years, mean+/-SD), and 26 individuals infected with HTLV-1, of whom 13 were asymptomatic (56+/-8 years) and 13 had HAM/TSP (60+/-6 years). RESULTS: The SL and ML EMG components were 55+/-4 and 112+/-10 ms, respectively, in the group of healthy subjects, 61+/-6 and 112+/-10 ms and in the HTLV-1-asymptomatic group, and 67+/-8 and 130+/-3 ms in the HAM/TSP group (p=0.001). The SL component was delayed in 4/13 (31%) of the examinations in the HTLV-1-asymptomatic group, while the ML component was normal in all of them. In the HAM/TSP group, the most common alteration was the absence of waves. CONCLUSIONS: A pattern of abnormal vestibular-evoked EMG responses was found in HTLV-1-neurological disease, ranging from delayed latency among asymptomatic carriers to the absence of a response in HAM/TSP. GVS may contribute to the early diagnosis and monitoring of nontraumatic myelopathies.
Adult ; Diagnosis* ; Early Diagnosis ; Electrophysiology ; Human T-lymphotropic virus 1 ; Humans ; Mastoid ; Muscle Spasticity* ; Muscles ; Paraparesis, Spastic* ; Spinal Cord Diseases

Lyme disease is a multi-systemic, tick-borne infectious disease caused by a spirochete, Borrelia burgdorferi. Various urologic symptoms are associated with Lyme disease, which can be primary or late manifestations of the disease. Although voiding dysfunction is a rarely reported symptom in patients with Lyme disease, it is one of the most disabling complications of Lyme disease. Korea is not an endemic area of Lyme disease, thus, fewer cases have been reported. Herein, we report a case of a 32-year-old man with rapidly progressive bilateral ptosis, dysphagia, spastic paraparesis, and voiding difficulty in whom Lyme disease was diagnosed through serologic tests for antibodies and Western blot testing. A urodynamic study demonstrated detrusor areflexia and bulbocavernosus reflex tests showed delayed latency, indicating demyelination at S2-S4 levels. He received a 4-week course of intravenous ceftriaxone (2 g/day). The patient has recovered from the bilateral ptosis and spastic paraparesis but still suffers from neurogenic bladder.
Antibodies ; Blotting, Western ; Borrelia burgdorferi ; Ceftriaxone ; Communicable Diseases ; Deglutition Disorders ; Demyelinating Diseases ; Humans ; Korea ; Lyme Disease ; Paraparesis, Spastic ; Reflex ; Serologic Tests ; Spirochaetales ; Urinary Bladder, Neurogenic ; Urodynamics

No abstract available.
Brain ; Muscle Spasticity ; Paraparesis, Spastic ; Pyramidal Tracts

Alexander disease(AD) is a rare fatal demyelinating disorder, caused by the mutation of glial fibrillary acidic protein(GFAP) gene. It is characterized by progressive demyelination of central nervous system, and the accumulation of Rosenthal fibers within astrocytes. It is divided into three group: infantile, juvenile, and adult. The infantile type is most common, has onset during the first 2 years of life. It shows macrocephaly and psychomotor delay, spastic paraparesis, seizure, and feeding problems, and usually dies within the first decade. The severity of the pathological changes depend on the age of onset. Radiological study revealed white matter loss, usually with frontal predominance. It is diagnosed by DNA analysis. We present case of a 10-month-old male patient with AD. He had focal seizures, demyelination in the frontal lobe in MRI, and the presence of a K86E mutaion in the GFAP gene, involving the replacement of adenosine with guanine.
Adenosine ; Adult ; Age of Onset ; Alexander Disease ; Astrocytes ; Central Nervous System ; Demyelinating Diseases ; DNA ; Frontal Lobe ; Guanine ; Humans ; Infant ; Macrocephaly ; Male ; Paraparesis, Spastic ; Seizures

Hepatic myelopathy is a rare neurological complication of chronic liver disease, and is characterized by a progressing spastic paraparesis without any sensory loss. However, a few recent reports suggest that involvement of the sensory system is also possible in hepatic myelopathy. We present a patient with hepatic myelopathy, who had impaired proprioception and a delayed cortical response of somatosensory evoked potentials. This supports the hypothesis that hepatic myelopathy may involve the sensory system as well as the motor system.
Evoked Potentials, Somatosensory ; Humans ; Liver Diseases ; Paraparesis, Spastic ; Proprioception ; Spinal Cord Diseases