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Table 1 Clinical course and laboratory data including treatments and outcomes

From: A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

Age (m)/ time after treatment (m)

3

4

5–7

8

9

12

14

15

15/+ 0.25

16/+ 1

17/+ 2

19/+ 4

23/+ 8

Clinical

URI

diarrhea

PJP, PEM

Wide gap metabolic acidosis

Anemia

Hemolytic anemia, B. cereus sepsis

Anemia, fatigue

More active

Suspected ASD

Liver/Spleen (cm)a

2/1

3/1

5/2

0/0

0/0

0/0

2/0

7/0

5/0

JP/0

JP/0

0/0

0/0

Red cell transfusion

X

X

X

X

X

X

X

Hydroxocobalamin (IM)

X

X

EN + PNb

X

X

X

X

1 mg daily for a week then 1 mg twice a week

CBC

 Hb (g/dL)

3.7

5.7

8.2

10.3

14.4

8.7

3.5

9.4

9.9

10.5

12

12.3

13.7

 MCV (fL)

94

77

86

98.7

99.9

102

98.8

98.4

93

90.3

82.4

75.1

82.2

 RDW (%)

ND

16.3

17.4

28

15.2

16.2

26.6

31.3

22.2

19.3

15.7

13.8

13.6

 WBC (109/L)

4.67

2.3

20.6

7.5

14.0

6.8

14.6

7.2

8.67

9.94

9.01

12.32

9.82

 N(%)

14

65

35

14

60

12

29

27

30

20

13

33

16

 Platelet (109/L)

25

36

29

250

338

186

164

62

331

267

261

297

285

LDH (125–220 U/L)

805

1606

610

ND

ND

1314

1786

673

365

362

275

297

288

Plasma homocysteine (5-15 μmol/L)

ND

ND

ND

ND

ND

ND

ND

53.7

1.6

2.0

2.8

2.8

2.1

Development

Roll over, Chest up, Sit with support, no babbling

Sit without support

Feed NG, no sucking, no babbling, stand with aid

Stand with aided, no babbling, no meaning word

Feed orally, babbling, increased variety of sounds, stand unaided

Walk with aided

Walk unaided, no meaning word

Jump, scribble, few words, no imitate, one step command with gesture

  1. Abbreviations: ASD Autistic spectrum disorder, CBC Complete blood count, EN + PN Enteral and parenteral nutrition, IM Intramuscular, JP Just palpable, m. Month, ND No data, NG Nasogastric tube, PEM Protein energy malnutrition, PJP Pneumocystis jirovecii pneumonia, URI Upper respiratory tract infection
  2. aLiver and spleen were measured expansion below the costal margin
  3. bEnteral nutrition with 1 μg/day of fortified cobalamin for 2 months, parenteral nutrition with 5 μg/day of intravenous cyanocobalamin for 1 week