hydroxocobalamin and Spinal-Cord-Diseases

Focal spinal cord lesions have been present in all previously reported cases of MRI appearances in myelopathy complicating vitamin B12 deficiency. We describe two further cases showing mild atrophy only and review the salient features of the previous 11 publications. MRI findings reflect quite closely the known pathological changes in this condition.

Topics: Adult; Aged; Atrophy; Female; Humans; Hydroxocobalamin; Magnetic Resonance Imaging; Male; Muscle Weakness; Neural Conduction; Paraparesis, Tropical Spastic; Sensation Disorders; Spinal Cord; Spinal Cord Diseases; Vitamin B 12 Deficiency

Topics: Aged; Cervical Vertebrae; Diagnosis, Differential; Fingers; Follow-Up Studies; Humans; Hydroxocobalamin; Magnetic Resonance Imaging; Male; Paresthesia; Risk Assessment; Severity of Illness Index; Spinal Cord Diseases; Treatment Outcome; Vitamin B 12 Deficiency

Subacute combined degeneration (SCD) of the spinal cord is a characteristic complication of vitamin B12 deficiency, but it has never been neuropathologically demonstrated in a B12-inborn error of metabolism. In this report SCD is documented in a 15-year-old boy with early-onset cobalamin C (cblC) disorder. The neuropathologic findings included multifocal demyelination and vacuolation with predilection for the dorsal and lateral columns at the mid-thoracic level of the spinal cord, confirming the similarity of SCD in cblC disorder to the classic adult SCD due to vitamin B12 deficiency. SCD developed in this boy despite treatment for cblC disorder that began at 3 months of age. There is clinical and experimental evidence to suggest that a deficiency in remethylation with concomitant reduction in brain methionine may be the cause of SCD. In this patient plasma methionine levels were low without betaine and/or l-methionine supplementation and in the normal range for only a 2-year period during compliance with therapy. In cblC disorder, a consistent increase in blood methionine to high normal or above normal levels by the use of betaine and l-methionine supplementation may be helpful in preventing SCD. This is especially important now that the presymptomatic detection of cblC disorder is possible through the expansion of newborn screening.

Topics: Adolescent; Brain; Child; Child, Preschool; Fatal Outcome; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Male; Median Nerve; Metabolism, Inborn Errors; Muscle, Skeletal; Neurodegenerative Diseases; Spinal Cord; Spinal Cord Diseases; Vitamin B 12

Topics: Anemia, Megaloblastic; Evoked Potentials, Visual; Humans; Hydroxocobalamin; Magnetic Resonance Imaging; Male; Middle Aged; Paresthesia; Remission Induction; Spinal Cord Diseases; Vitamin B 12 Deficiency

Topics: Adolescent; Child; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Neurocognitive Disorders; Spinal Cord Diseases; Vitamin B 12

In 28 patients suffering from subacute combined degeneration of the spinal cord, vitamin B12 metabolism was investigated. Two postulates, proving vitamin B12 deficiency and excluding another cause for the clinical symptoms, have to be fulfilled. Two patients had no disturbance in their vitamin B12 metabolism. Seven patients had a distinct vitamin B12 deficiency. In the remaining 19 patients we found a mild vitamin B12 deficiency. Of these patients, 5 had had a subtotal gastrectomy, one had had a low absorption of vitamin B12, and 13 patients we could not find a distinct cause for the vitamin B12 deficiency. It is not impossible that nutritional habits can be hold responsible for this deficiency. The question whether these 13 patients should be treated with vitamin B12 for the rest of their lives is difficult to answer. It is a conditio sine qua non that in the patients with S.C.D. the vitamin B12 metabolism is examined circumstantially. By so doing, it may be possible to detect, in cases with minor clinical signs and symptoms of S.C.D., the cause of their illness.

Topics: Adult; Aged; Diagnosis, Differential; Female; Folic Acid; Folic Acid Deficiency; Follow-Up Studies; Humans; Hydroxocobalamin; Intestinal Absorption; Male; Middle Aged; Nerve Degeneration; Recurrence; Spinal Cord; Spinal Cord Diseases; Vitamin B 12; Vitamin B 12 Deficiency

Five patients presenting clinically with a form B12-deficiency neuromyelopathy, with cord involvement in all and proximal muscle weakness in two of them, were investigated for their neurologic, hematologic and vitamin status. Megaloblastosis and achlorhydria were present in all, and impaired absorption of 57Co vitamin B12 and of D-xylose was detected in four. Total cyanide extracted vitamin B12 (A) was lowered in all cases and noncyanide extractable (B) in four of the five, being zero in three. All five responded to injections of hydroxocobalamin. In two patients sequential estimations showed that both A and B, especially the latter, rose steeply initially, normalizing at 50% of A after some weeks. Moiety B is suggested to be physiologically the more active and dissociable form of vitamin B12. Markedly elevated initial serum folate levels, and their subsequent fall under treatment with B12, indicated the operation of the "methyltetrahydrofolate trap". Blood levels of thiamin, nicotinic acid and pantothenic acid were within normal limits. However, serum riboflavin (B2) total vitamin B6 and pyridoxal were reduced in all where tested. Vitamin B6 deficiency could have resulted from its own malabsorption and have contributed to be B12 deficiency. Vitamin B2 and B6 levels also corrected themselves on B12 therapy. The B-vitamin deficiencies in our patients probably resulted from intestinal malabsorption, with a possible factor of malnutrition consequent to their strictly vegetarian diet.

Topics: Achlorhydria; Adolescent; Adult; Animals; Demyelinating Diseases; Diet, Vegetarian; Erythrocyte Count; Humans; Hydroxocobalamin; Malabsorption Syndromes; Male; Megaloblasts; Milk; Spinal Cord Diseases; Vitamin B 12 Deficiency; Vitamin B 6 Deficiency; Vitamin B Complex

Topics: Anemia, Pernicious; History, 20th Century; Humans; Hydroxocobalamin; Spinal Cord Diseases; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia, Macrocytic; Anemia, Pernicious; Humans; Hydroxocobalamin; Meningoencephalitis; Neuritis; Pellagra; Postgastrectomy Syndromes; Spinal Cord; Spinal Cord Diseases; Spinal Cord Neoplasms; Vitamin B 12; Vitamin B Complex