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Involuntary Movements and Magnetic Resonance Imaging Findings in Infantile Cobalamine (Vitamin B₁₂) Deficiency

Department of Pediatrics
Fatih University School of Medicine
Ankara, Turkey

Tuba Turul, MD and Sabiha Aysun, MD

Department of Pediatrics
Hacettepe University School of Medicine
Ankara, Turkey

Iil Ünal, MD

Department of Neurology
Hacettepe University School of Medicine
Ankara, Turkey

Abbreviations: EMG, electromyography • Ig, immunoglobulin • MRI, magnetic resonance imaging • vit B₁₂, vitamin B₁₂

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Infantile vitamin B₁₂ (vit B₁₂) deficiency is encountered in malnourished infants or in offspring of strict vegan mothers or mothers with pernicious anemia and accompanied by hematologic and neurologic findings. We present here a 16-month-old infant whose mother had vit B₁₂ deficiency with low socioeconomic level admitted to our hospital. On admission, the patient was apathic, hypotonic, and lethargic. Serum vit B₁₂ level was below detectable limits. On cranial magnetic resonance imaging (MRI), T2-weighted images revealed bilateral frontal and parietal periventricular high-signal symmetric lesions in the white matter (delayed myelination) and frontoparietal cortical atrophy. On day 3 of vit B₁₂ therapy, involuntary movements were observed.

Vit B₁₂ is an essential vitamin and needs to be supplied by diet. Although a vit B₁₂-deficient diet can be tolerated by the adults for years from the endogenous pool, deficiency in infants may become symptomatic in a few months because of the limited hepatic reserve.¹ Infantile vit B₁₂ deficiency is common in malnourished offspring of vegan mothers and mothers with pernicious anemia and has a clinical course of ineffective hematopoiesis and neurodegenerative signs.^1–5 Here, we present a 16-month-old male infant who had severe vit B₁₂ deficiency accompanied by hematologic, neurologic, and typical MRI findings.

	CASE REPORT

 
A 16-month-old male infant was admitted to our hospital for fever and tendency to sleep. His past medical history revealed that his mental and motor development were normal up to 8 months of age. He subsequently became lethargic and showed developmental regression. He was hospitalized for . . . [Full Text of this Article]

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