Table 1

Admission and follow-up clinical and laboratory data of an infant with vitamin B12 deficiency
Parameter Admission Two weeks after admission Three months after admission Five months after admission Seven months after admission
Clinical data
Age, months 5 6 8 10 12
Weight, g 4,800 5,660 6,515 7,000 7,445
Length, cm 60 61.5 65.5 67.5 69
Head circumference, cm 39 42 43.5 45 46
Pathological clinical findings Poor weight gain, feeding difficulties, severe pallor, muscle hypotonia, somnolence, enlarged liver and spleen Persistence of hypotonia and mildly enlarged liver and spleen Persistence of mild hypotonia and mildly enlarged liver and spleen Persistence of mild hypotonia Persistence of mild hypotonia
Pathological neurological findings Significant delay in developmental milestones and communicative reactions Significant delay in developmental milestones and communicative reactions Significant delay in developmental milestones and communicative reactions Able to remain seated with delay in other developmental milestones and communicative reactions Able to remain seated, delay in gross motor function and language; Griffith’s scale 86 (normal values, 92–100)
Laboratory data
Hb, g/dL 4.7 10 n.a. n.a. 12.2
MCV, fL 84.2 91.3 n.a. n.a. 81.2
White blood cell count, cells/mm3 4,680 9,810 n.a. n.a. 13,410
Platelet count, cells/mm3 45,000 492,000 n.a. n.a. 375,000
Peripheral blood film Oval macrocytes, anisopoikilocytosis, hypochromia, anisochromia, and hypersegmented polymorphonuclear leukocytes Normal n.a. n.a. Normal
Bone marrow examination Reduced number of red line cells with some megaloblasts; a small number of dysplastic megakaryocytes; dysplastic granulopoiesis with asynchronous maturation processes n.a. n.a. n.a. n.a.
Serum vitamin B12, pg/mL 57 >2,000 n.a. n.a. 1,344
Serum folic acid, ng/mL 12.8 14 n.a. n.a. 17.3
Serum iron, μg/dL 9 76 n.a. n.a. 73
Serum ferritin, ng/mL 4 ng/mL 31 n.a. n.a. 49
Blood homocysteine, μmol/L 11 5.4 n.a. n.a. 2
Urinary methylmalonic acid, μmol/mol creatinine 281 6 n.a. n.a. 4
MMACHC gene mutations None n.a. n.a. n.a. n.a.
Neuroimaging
MRI Mild dilatation of lateral ventricles with diffuse retarded myelination, most markedly in the brainstem n.a. n.a. n.a. Persistent mild dilatation of lateral ventricles with diffuse retarded myelination, most markedly in the brainstem

MRI: magnetic resonance imaging; n.a.: not available.

Guez et al.

Guez et al. BMC Pediatrics 2012 12:85   doi:10.1186/1471-2431-12-85

Open Data