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Table 2 Further evaluation of ASMD patients at referral

From: Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

 

P1

P2

P3

P4

P5

P6

P7

Age (months)

31

16

8

4

26

7

6

Evolution

 Hepatomegaly

 + 

 + 

 + 

 + 

 + 

 + 

 + 

 Splenomegaly

 + 

 + 

 + 

 + 

 + 

 + 

 + 

 Developmental delay

 + 

 + 

 + 

 Cherry red spot

ND

ND

 + 

 + 

 + 

 + 

 Hypotonia

 Interstitial lung disease

 + 

Biochemistry results

 Total bilirubin (μmol/L)

7.3

20.3

33.3

100.4

13.7

8.7

10.9

 Direct bilirubin (μmol/L)

1.4

5.3

20.2

57.9

6.6

3.4

2.9

 Alanine aminotransferase (U/L)

31

63

118

20

121

239

54

 Aspartate aminotransferase (U/L)

57

103

368

214

126

230

210

 γ-glutamyl transpeptidase (U/L)

16

38

195

167

38

66

37

 Total bile acid (μmol/L)

7.8

2.4

92.6

329.5

6.9

10.9

27.2

 HDL-C (mmol/L)

ND

0.42

0.71

ND

0.67

0.74

0.72

 Platelet (× 10^9/L)

90

204

103

327

140

329

189

Foam cells in bone marrow

 + 

 + 

 + 

 + 

 + 

 + 

 + 

Liver histologic studies

 Foam cells

 + 

 + 

 + 

 + 

 + 

 + 

 + 

 Cholestasis

 + 

 Activity grade

G0

G0

G0

G1

G0

G1

G0

 Fibrosis stage

S1

S3

S3

S2

S2

S2

S1

  1. ND, not done; HDL-C (mmol/L), high density liptein cholesterol (ref: 1.03–1.55)