No abstract available.
Nitrous Oxide* ; Subacute Combined Degeneration*

We report two cases of subacute combined degeneration (SCD) caused by nitrous oxide (N₂O) gas intoxication, which is rarely reported in Korea. Two patients recreationally inhaled N₂O gas daily for several months. They presented with paresthesia of limbs, voiding difficulty, and gait disturbance. The initial vitamin B₁₂ levels were normal or decreased, but homocysteine levels of the two patients were increased. Magnetic resonance imaging of the cervical spine showed T2-weighted hyperintensity in the bilateral dorsal columns of the cervical spinal cord. Electromyography and somatosensory evoked potential tests for both patients suggested posterior column lesion of the spinal cord combined with sensorimotor polyneuropathy. According to these findings, we concluded that the two patients had SCD. The patient’s symptoms partially improved after cessation of N₂O gas inhalation and the receiving of vitamin B₁₂ supplementation therapy. As the incidence of recreational N₂O gas inhalation is increasing in Korea, physicians must be alert to the N₂O induced SCD in patients presenting with progressive myelopathy.
Cervical Cord ; Electromyography ; Evoked Potentials, Somatosensory ; Extremities ; Gait ; Homocysteine ; Humans ; Incidence ; Inhalation ; Korea ; Magnetic Resonance Imaging ; Nitrous Oxide ; Paresthesia ; Polyneuropathies ; Recreation ; Spinal Cord ; Spinal Cord Diseases ; Spine ; Subacute Combined Degeneration ; Vitamin B 12 ; Vitamins

No abstract available.
Inhalation ; Nitrous Oxide ; Pulmonary Embolism ; Subacute Combined Degeneration

No abstract available.
Humans ; Subacute Combined Degeneration ; Vitamin B 12

We report a patient who was diagnosed as subacute combined degeneration (SCD) with elevated homocysteine and methylmalonic acid levels in the situation of a spurious elevation of the vitamin B12 concentration. A false-positive elevation of the vitamin B12 level could lead to a delayed diagnosis and cause irreversible changes in the nervous systems. We therefore suggest that the homocysteine and methylmalonic acid levels should be checked in patients with a normal or elevated vitamin B12 level for whom there is a high clinical suspicion for vitamin B12 deficiency, as a further evaluation for SCD.
Delayed Diagnosis ; Gastritis, Atrophic* ; Homocysteine ; Humans ; Methylmalonic Acid ; Nervous System ; Subacute Combined Degeneration* ; Vitamin B 12 Deficiency ; Vitamin B 12* ; Vitamins*

No abstract available.
Magnetic Resonance Imaging* ; Subacute Combined Degeneration*

Pernicious anemia (PA) is an autoimmune disease characterized by atrophic gastritis and deficiency in intrinsic factor leading to impairment of vitamin B12 absorption in the ileum. Anemia is commonly found in rheumatoid arthritis (RA); however, PA is rarely found in RA. There are few reports describing patients with both conditions; none in Korea to date. We report on a case of a 46-year-old female who presented with hypesthesia and general weakness. She was previously diagnosed as seropositive RA with myelodysplastic syndrome. She had severely impaired sensation, especially for vibration and proprioception in all limbs. Subacute combined degeneration was observed on her magnetic resonance imaging and serum vitamin B12 level was very low. Further exam results were consistent with PA and her symptoms improved with cobalamin injection. This case demonstrates that PA should be considered in RA patients presenting with both central nervous system manifestations and anemia.
Absorption ; Anemia ; Anemia, Pernicious* ; Arthritis, Rheumatoid* ; Autoimmune Diseases ; Central Nervous System* ; Extremities ; Female ; Gastritis, Atrophic ; Humans ; Hypesthesia ; Ileum ; Intrinsic Factor ; Korea ; Magnetic Resonance Imaging ; Middle Aged ; Myelodysplastic Syndromes ; Proprioception ; Subacute Combined Degeneration ; Vibration ; Vitamin B 12

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.
Child ; Foot ; Gait ; Gastrectomy ; Hand ; Heterozygote ; Humans ; Muscle Spasticity ; Paresthesia ; Peripheral Nervous System Diseases ; Porphyrins ; Pyramidal Tracts ; Sensation ; Spastic Paraplegia, Hereditary ; Subacute Combined Degeneration ; Vibration ; Vitamin B 12

PURPOSE: Subacute combined degeneration (SCD) involves progressive degeneration of the spinal cord, optic nerve, and peripheral nerves. Vitamin B12 (VB12) is a co-factor in myelin synthesis. Because each cell that constitutes the myelin component in the central nervous system and peripheral nervous system is different, it is improbable that these cells undergo simultaneous degeneration. However, the sequence of degeneration in SCD has not been established. MATERIALS AND METHODS: In this study, we analysed medical records and electrophysiological data of patients who showed neurological symptoms and whose serum VB12 levels were lower than 200 pg/mL. RESULTS: We enrolled 49 patients in this study. Their mean VB12 level was 68.3 pg/mL. Somatosensory evoked potential (SEP) study showed abnormal findings in 38 patients. Of the 40 patients who underwent visual evoked potential (VEP) study, 14 showed abnormal responses. Eighteen patients showed abnormal findings on a nerve conduction study (NCS). In this study, abnormal posterior tibial nerve SEPs only were seen in 16 patients, median nerve SEPs only were seen in 3 patients, abnormal VEPs only in two, and abnormal NCS responses in one patient. No patient complained of cognitive symptoms. CONCLUSION: In SCD, degeneration appears to progress in the following order: lower spinal cord, cervical spinal cord, peripheral nerve/optic nerve, and finally, the brain.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Evoked Potentials, Somatosensory/physiology ; Female ; Humans ; Male ; Middle Aged ; Subacute Combined Degeneration/*blood/metabolism/*physiopathology ; Vitamin B 12/blood ; Vitamin B 12 Deficiency/blood/complications ; Young Adult

Vitamin B12 deficiency can cause myelopathy of subacute combined degeneration of lateral and dorsal column in spinal cord. When combined with compressive myelopathy, symptoms and signs of vitamin B12 deficient myelopathy could be masked. We experienced a case of forty-one year old man suffered from gait disturbance and decreased proprioception. Initially surgeons concluded his weakness resulted from myelopathy by C5-6 centrally herniated disk based on MRI and surgical decompression was performed. Gait disturbance slightly improved but decreased proprioception did not improve. Vitamin B12 deficiency was found and high signal intensity lesions were found in dorsal and lateral spinal column with review of pre-op MRI. After administration with vitamin B12 supplements, weakness and sensation of proprioception improved and follow-up MRI showed decreased signal intensity. We concluded the cause of his symptoms was combination of compressive myelopathy and vitamin B12 deficient myelopathy.
Decompression, Surgical ; Follow-Up Studies ; Gait ; Intervertebral Disc Displacement ; Masks ; Proprioception ; Sensation ; Spinal Cord ; Spinal Cord Compression ; Spinal Cord Diseases ; Spine ; Subacute Combined Degeneration ; Vitamin B 12 ; Vitamin B 12 Deficiency ; Vitamins