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Published on: September 19, 2019
West syndrome due to vitamin B12 deficiency
Hepsen Mine Serin1, Aslıhan Oruçoğlu Kara2, Baran Oğuz2
1Department of Pediatrics, Division of Pediatric Neurology, Fırat University Faculty of Medicine, Elazığ, Turkey.
Insights
Vitamin B12 deficiency can cause serious neurological issues in infants, including West syndrome. Early diagnosis and intervention are crucial, even without anemia, to prevent developmental delays.
Area of Science:
- Pediatrics
- Neurology
- Nutritional Science
Background:
- Vitamin B12 is vital for infant development, with deficiency leading to hematological and neurological deficits.
- Symptoms of deficiency include macrocytic anemia, neurodevelopmental delay, hypotonia, and seizures.
Observation:
- A six-month-old male infant presented with West syndrome and hypotonicity.
- Vitamin B12 levels were found to be low, despite a normal complete blood count and no evidence of macrocytic anemia.
Findings:
- The infant's condition was attributed to maternal nutritional inadequacy, leading to vitamin B12 deficiency.
- No other etiological factors for West syndrome were identified in the patient.
Implications:
- Vitamin B12 deficiency should be considered in the differential diagnosis of neurological findings in infants.
- This case highlights vitamin B12 deficiency as a rare but important cause of West syndrome.
Abstract:
Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.
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