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The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements.
Mov Disord. 1997 Jan; 12(1):39-46.MD

Abstract

Developmental regression is the presenting symptom of most infants with cobalamin (Vitamin B12) deficiency. We present a report of three infants with cobalamin deficiency in which the infants also developed a movement disorder. In each case the mother was a vegetarian and the infant was exclusively breast-fed. In two of the infants, a striking movement disorder consisting of a combination of tremor and myoclonus particularly involving face, tongue, and pharynx appeared 48 h after the initiation of treatment with intramuscular cobalamin. This was associated with marked changes in plasma amino acid levels. Paradoxically, the onset of the movement disorder coincided with overall neurological improvement. The third infant had a persistent focal tremor, which appeared before the commencement of treatment. The movements slowly abated during a 3-6 week period. The presence of a movement disorder in cobalamin deficiency has received less attention than other features, but in a mild form is probably common. It may offer an early clue to the diagnosis before the onset of profound neurological deterioration. The cause of the severe movement disorder that can appear after treatment is not known.

Authors+Show Affiliations

Department of Paediatric Neurology, Westmead Hospital, Sydney, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8990052

Citation

Grattan-Smith, P J., et al. "The Neurological Syndrome of Infantile Cobalamin Deficiency: Developmental Regression and Involuntary Movements." Movement Disorders : Official Journal of the Movement Disorder Society, vol. 12, no. 1, 1997, pp. 39-46.
Grattan-Smith PJ, Wilcken B, Procopis PG, et al. The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements. Mov Disord. 1997;12(1):39-46.
Grattan-Smith, P. J., Wilcken, B., Procopis, P. G., & Wise, G. A. (1997). The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements. Movement Disorders : Official Journal of the Movement Disorder Society, 12(1), 39-46.
Grattan-Smith PJ, et al. The Neurological Syndrome of Infantile Cobalamin Deficiency: Developmental Regression and Involuntary Movements. Mov Disord. 1997;12(1):39-46. PubMed PMID: 8990052.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The neurological syndrome of infantile cobalamin deficiency: developmental regression and involuntary movements. AU - Grattan-Smith,P J, AU - Wilcken,B, AU - Procopis,P G, AU - Wise,G A, PY - 1997/1/1/pubmed PY - 1997/1/1/medline PY - 1997/1/1/entrez SP - 39 EP - 46 JF - Movement disorders : official journal of the Movement Disorder Society JO - Mov Disord VL - 12 IS - 1 N2 - Developmental regression is the presenting symptom of most infants with cobalamin (Vitamin B12) deficiency. We present a report of three infants with cobalamin deficiency in which the infants also developed a movement disorder. In each case the mother was a vegetarian and the infant was exclusively breast-fed. In two of the infants, a striking movement disorder consisting of a combination of tremor and myoclonus particularly involving face, tongue, and pharynx appeared 48 h after the initiation of treatment with intramuscular cobalamin. This was associated with marked changes in plasma amino acid levels. Paradoxically, the onset of the movement disorder coincided with overall neurological improvement. The third infant had a persistent focal tremor, which appeared before the commencement of treatment. The movements slowly abated during a 3-6 week period. The presence of a movement disorder in cobalamin deficiency has received less attention than other features, but in a mild form is probably common. It may offer an early clue to the diagnosis before the onset of profound neurological deterioration. The cause of the severe movement disorder that can appear after treatment is not known. SN - 0885-3185 UR - https://www.unboundmedicine.com/medline/citation/8990052/The_neurological_syndrome_of_infantile_cobalamin_deficiency:_developmental_regression_and_involuntary_movements_ L2 - https://doi.org/10.1002/mds.870120108 DB - PRIME DP - Unbound Medicine ER -