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Pseudoparalysis in Infantile Vitamin B12 Deficiency
Pawan Kumar1, Ankita Tyagi1, Sameer Vyas1
1Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India.
Insights
Severe infantile vitamin B12 deficiency, or infantile tremor syndrome, presents with developmental delay and tremors. Prompt injectable vitamin B12 therapy rapidly reverses akinesis and other symptoms.
Area of Science:
- Neurology
- Pediatrics
- Nutritional Science
Background:
- Infantile B12 deficiency, known as infantile tremor syndrome, is primarily reported in India.
- Affected infants often exhibit developmental delay, regression of milestones, tremors, sparse hair, and skin hyperpigmentation.
- Maternal vegetarian diet during breastfeeding is a common risk factor.
Purpose of the Study:
- To report observations in five children with akinesis and severe infantile vitamin B12 deficiency.
- To investigate the clinical presentation and response to treatment in these cases.
Main Methods:
- Clinical case series describing five infants with severe vitamin B12 deficiency.
- Observation of clinical features including akinesis and response to injectable vitamin B12 therapy.
Main Results:
- All five children presented with akinesis and typical features of severe infantile vitamin B12 deficiency.
- Rapid recovery of movements was observed within two weeks of initiating injectable vitamin B12 therapy.
- Two children experienced a transient phase of generalized rigidity during recovery.
Conclusions:
- Akinesis in infantile B12 deficiency may result from energy depletion in the basal ganglia.
- The basal ganglia, with their high metabolic rate, appear particularly susceptible to vitamin B12 deficiency.
- Early diagnosis and treatment with vitamin B12 are crucial for reversing neurological deficits.
Abstract:
The neurocutaneous syndrome of infantile B12 deficiency, also called the "infantile tremor syndrome," is reported mainly from India. Typically, the child of a vegetarian mother who breastfeeds presents with developmental delay, regression of milestones, and tremors. The baby typically appears chubby, has sparse hypopigmented hair, and hyperpigmentation on the dorsum of the hands, feet, and other parts of the body. We share our observations in five children with akinesis and the typical features of severe infantile vitamin B12 deficiency. After initiating therapy with injectable vitamin B12, the children showed rapid recovery of movements in the first two weeks. The recovery went through a phase of generalized rigidity in two children. We postulate that the state of akinesis, or pseudoparalysis, is secondary to energy depletion of the basal ganglia. The basal ganglia, one of the regions with high metabolic rates, appear to be selectively vulnerable to vitamin B12 deficiency.
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