Skip to main content

Table 1 Clinical features and ERT of 6 children with GSD II

From: Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series

 

P1

P2

P3

P4

P5

P6

Form

Juvenile-onset

Juvenile-onset

Juvenile-onset

Infantile-onset

Infantile-onset

Infantile-onset

Gender

F

M

F

M

M

M

Age of onset (mo)

15

20

47

5

1

4

Initial symptoms

Unsteady walking, recurrent respiratory infection

Walked slowly,recurrent respiratory infection

Generalized fatigue, slow running, hoarse voice, ptosis

Myocardial hypertrophy, delayed gross motor skills

Myocardial hypertrophy

Hypertrophic cardiomyopathy

Best gross motor milestone (age obtained in months)

Walk (15 → lost at 26)

Walk (20 → lost at 24)

Walk (14)

walk (13 → lost at 33)

stand with support (15)

MHC (4)

LVEdD (Z score>2) at baseline, age (mo)

✖

✓, 24

✖

✓, 5

✓, 1

✓,4

Age at first admission to our hospital (mo)

32

24

49

34

3

4

Weight at admission (kg)

10 (−2.2SD)

9 (−3.0SD)

12 (−2.2SD)

12 (−1.8SD)

5.2 (−2.0SD)

6.5 (−1.3SD)

Height at admission (cm)

87 (−1.6SD)

90 (−1SD)

95 (−2.3SD)

94 (−0.3SD)

58 (− 1.6SD)

63 (−0.6SD)

BMI at admission (kg/m2)

13.2

11.1

13.2

13.5

15.4

16.3

Dysphagia at baseline

✖

✖

✖

✖

✓

✓

Feeding pattern, nutrient type during hospitalization

NGT, peptamen

NGT,peptamen

Oral feeding, Normal diet

NGT,peptamen

NGT,formula milk

NGT,formula milk

Total calories

(kcal/kg/day)

120–135

90–120

70–80

70–100

100–136

100–110

Rate of proteins with diet

12%

12%

10%

12%

15%

15%

Age of final diagnosis (mo)

31†

25†

49

7†

2†

5

Age of ERT intiation (mo)

32

31

56

34

3

5

Symptoms before starting ERT

Bed-ridden, muscle weakness of limbs, 24-h invasive ventilation

Bed-ridden, muscle weakness of limbs, 24-h invasive ventilation

Serious fatigue after exercises

Bed-ridden, myocardial hypertrophy, muscle weakness of limbs, 24-h invasive ventilation

Respiratory failure, 24-h invasive ventilation

Hypertrophic cardiomyopathy, respiratory failure, 24-h invasive ventilation

ERT Duration (mo, 20 mg/kg qow)

15.5

4.5

2

2.5

17

2

CRIM status

NT

NT

NT

NT

NT

NT

Age (mo); follow up status

72mo, wheelchair, tracheal intubation, 24-h mechanical ventilation

48mo, wheelchair, Weaned from the ventilator

96mo, went to school normally, physical exercise intolerable

36mo, died after abandoning treatment

21mo, walk independently, delayed gross motor skills

7mo, died after abandoning treatment

GAA activity in PBLCb

0.90

1.45

1.03

8.20

0.00

2.86

Genotypec

c.1082C>T,c.1935C>A (both potentially less severe)

c.1216G>A (unknow),c.1935C>A (potentially less severe)

c.1216G>A (unknow),c.1935C>A (potentially less severe)

c.1557G>A (unknown), c.1978C>T (potentially less severe)

homozygotic mutation of c.1935C>A (potentially less severe)

c.1822C>T (very severe), c.1935C>A (potentially less severe)

Age of initial MV (mo),Duration of IV (NIV) (mo)

30,36 (0.4)

23,1 (0)a

47,1 (0)a

31,5 (0)

3,3.5 (0.6)

5,2 (0.1)

Age of MV for the second time (mo),Duration of IV (NIV) (mo)

NA

30,2.5 (4)

72,1 (3)a

NA

15,1 (0.4)

NA

Trachcostomy (Yes/No)

Yesd

No

No

No

No

No

ABG pre-ventilation/worst

PH

7.16

7.13

7.33

7.22

7.27

7.33

PO2 (mmHg)

84

88

65

74

39

808

PCO2 (mmHg)

111

98

80

84

93

85

ABG on discharge/in the recovery phase

PH

7.39

7.48

7.41

7.42

7.35

7.44

PO2 (mmHg)

80

62

93

97

72

89

PCO2 (mmHg)

55

39

47

50

59

50

  1. GSD II Glycogen storage disease type II, P patient no, mo months or month, F female, M male, LVEdD left-ventricular end-diastolic diameter, MHC minimal head control, SD standard deviation, BMI Body Mass Index, NGT naso-gastric tube, ERT enzyme replacement therapy, CRIM Cross reactive immunological material, NT not tested, GAA acid alpha- glucosidase, PBLC peripheral blood leukocytes, MV mechanical ventilation, IV invasive ventilation, NIV noninvasive ventilation, NA Not Applicable, ABG Arterial blood gas, PH Potential Hydrogen, PaO2 Partial pressure of oxygen, PaCO2 Partial pressure of carbon dioxide
  2. ashe or he was diagnosed in a previous hospital and successful withdraw of mechanical ventilation without enzyme replacement therapy in the first time
  3. bnormal GAA activity in PBLC: > 14 nmol/h/mg; c please visit www.pompecenter.nl for the severity of gene mutation
  4. dshe had a tracheotomy at 46 months old