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Caso contributivo

Grave deficit di vitamina B12 in una lattante

Franco Colonna¹, Erika Moretto¹, Paola Costa², Floriana Zennaro³

¹SC di Pediatria, PO di San Vito al Tagliamento (Pordenone), ASS 6 Friuli Occidentale
²Neuropsichiatria Infantile, IRCCS “Burlo Garofolo”, Trieste
³Radiologia a indirizzo pediatrico, IRCCS “Burlo Garofolo”, Trieste

Key words: Vitamin B12, Macrocytic anemia, Psychomotor impairment

An 11-month-old female was admitted to our hospital for anorexia, pallor and developmental regression. She had been exclusively breast-fed. Mother with thyroiditis, non vegetarian. Hemogram in the baby revealed macrocytic anaemia (8.4 g/dl Hb, MCV 99); serum folate level was normal, cobalamine level not measurable. Subsequently, cobalamine deficiency and autoimmune gastritis were diagnosed in her mother. Cerebral NMR revealed fronto-temporal subatrophy. Intramuscular cobalamine injections in daily dose of 1,000 µg were given. After few days of treatment, involuntary movements appeared (controlled by clonazepam). Later, favourable clinical course and slow but progressive improvement of neurological development were observed. Seven months later, serum haemoglobin and cobalamine level were normal and cerebral NMR almost completely normalized. We remark the importance of macrocytosis in the diagnosis of cobalamine deficiency.

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