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A novel variant in the LIPA gene associated with distinct phenotype

A. Sarajlija
A. Sarajlija
, 
L. Armengol
L. Armengol
, 
A. Maver
A. Maver
, 
I. Kitic
I. Kitic
, 
D. Prokic
D. Prokic
, 
M. Cehic
M. Cehic
, 
M.S. Djuricic
M.S. Djuricic
 y 
B. Peterlin
B. Peterlin
   | 01 mar 2023
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Article Category: Case Report
Publicado en línea: 01 mar 2023
Páginas: 93 - 100
DOI: https://doi.org/10.2478/bjmg-2022-0010
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© 2022 Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Liver histology of patient 3. 1A. Foamy macrophages with pyknotic nuclei loaded in the portal space and uniform microvesicular steatosis with accompanying marked fibrosis. (Paraffin section stained with Masson’s trichrome, x200). 1B. Histological picture of liver steatosis with evenly distributed, Sudan IV positive microvesicles in hepatocytes and crystalloid clefts of cholesteryl ester that are only hinted at due to light birefringence. (Frozen section stained with Sudan IV, x25). 1C. Birefringent, anisotropic crystals are seen under polarized light on frozen sections stained by the Sudan IV method. Maltese cross-type birefringence is visible here and there. (Frozen section stained with Sudan IV, polarized light, x40).
Liver histology of patient 3. 1A. Foamy macrophages with pyknotic nuclei loaded in the portal space and uniform microvesicular steatosis with accompanying marked fibrosis. (Paraffin section stained with Masson’s trichrome, x200). 1B. Histological picture of liver steatosis with evenly distributed, Sudan IV positive microvesicles in hepatocytes and crystalloid clefts of cholesteryl ester that are only hinted at due to light birefringence. (Frozen section stained with Sudan IV, x25). 1C. Birefringent, anisotropic crystals are seen under polarized light on frozen sections stained by the Sudan IV method. Maltese cross-type birefringence is visible here and there. (Frozen section stained with Sudan IV, polarized light, x40).

Genetic, hematologic and biochemical findings in four Serbian patients with chronic hepatosplenomegaly and variants detected in the LIPA gene

Patient 1 Patient 2 Patient 3 Patient 4
LIPA gene variant #1 c.419G>A (p.Trp140Ter) c.419G>A (p.Trp140Ter) c.851C>T (p.Ser284Phe) c.851C>T (p.Ser284Phe)
LIPA gene variant #2 c.851C>T (p.Ser284Phe) c.851C>T (p.Ser284Phe) c.851C>T (p.Ser284Phe) c.851C>T (p.Ser284Phe)
Enzyme activity 0.14 nmol/punch/hr (normal >0.1) Not available 0.32 nmol/punch/h (normal >0.1) Not performed
Total cholesterol (mmol/L) 3.1 - 4.4 4.13 - 4.3 2.4 - 5.44 3.56 - 5.12
LDL cholesterol (mmol/L) 2.04 - 2.6 2.66 - 2.9 1.35 - 4.47 2. 44 - 3.9
HDL cholesterol (mmol/L) 0.14 - 0.42 0.13 - 0.14 0.23 - 0.73 0.07 - 0.51
TG (mmol/L) 1.34 - 6.6 2.94 - 3.18 0.61 - 1.63 1.7 - 3.22
AST (IU/L) 61 - 153 109 - 128 55 - 200 60 - 154
ALT (IU/L) 49 - 98 50 - 76 40 - 105 38 - 102
Hemoglobin (g/L) 107-126 92-115 80-118 75-127
WBC count 3.65 - 5.7 5.4 -5.8 2.66 - 14.4 2.6 - 8.54
Platelet count 57.7 -203 14 - 204 73 - 399 66 - 406
ACE (IU/L) 120 - 223 ND ND ND
Chitotriosidase (nmol/ml/hr) 2106 - 8083 ND 10805 ND
Oxysterols (mcmol/L) 0.597 (normal < 0.05) ND ND ND
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Medicine, Basic Medical Science, other
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