Table 1.
Patients’ demographic and clinical findings.
| Pt# 1 | Pt #2 | Pt #3.1 | Pt #3.2 | Pt #4 | |
|---|---|---|---|---|---|
| Ethnic Origin | Latino | African American | Latino | Latino | Northern European descent |
| Sex | M | F | F | M | M |
| Parental consanguinity | No | No | No | No | No |
| Age of onset (months) | 9 | 15 | 3 | Unknown | 12 |
| Variants (GBE1 gene, NM_000158.4) | c.1544G > A; p.(Arg515His)/ c.1064G > A/p.(Arg355His) |
c.1544G > A; p.(Arg515His)/c.826G > C; p.(Ala276Pro) | c.1544G > A; p.(Arg515His)/c.1803 + 2T > C; p.? | NA | c.1570C > T p.(Arg524*)/ c.760 A > G p.(Thr254Ala) |
| Method of diagnosis | NGS, gene panel | Gene panel | NGS, gene panel | Retrospective (brother of patient 3.1) | NGS, single gene |
| Prenatal/neonatal findings | Normal | Oligohydramnios | Normal | NA | Normal |
| Developmental delay | Yes | Yes | NA | NA | Yes |
| Failure to thrive | Yes | Yes | NA | NA | Yes |
| Hypotonia | Yes | Yes | NA | NA | Yes |
| Length in cm (Z score) | 82 (−1.2 SD) at 23 months | NA | 65 (−2.18 SD) at 10 months | 73 (−2.34 SD) at 16 months | |
| Weight in kg (Z score) | 9.7 (−2.4 SD) at 23 months | NA | 6.6 (2.69 SD) at 10 months | 11.2 (−0.09 SD) at 16 months | |
| First symptoms | Failure to thrive, hepatosplenomegaly, and hypotonia. | Progressive chronic liver dysfunction. | Blood stool/abdominal distension | Hepatosplenomegaly | Hepatosplenomegaly |
| Hepatomegaly | Yes | Yes | Yes | No | Yes |
| Splenomegaly | Yes | Yes | Yes | Yes | Yes |
| Serum laboratory data at hospital admission | |||||
|
Chitotriosidase (nmol/h/mL)
NRV = 8.8–132 |
860 | N/A | NA | 973.2 | 229 |
|
Hemoglobin (g/dL)
NRV = 13.2–16.6 |
7.1 | 9.4 | 12 | 10.7 | 7.3 |
|
Platelet count (×109/L)
NRV = 135–317 |
8.9 | 71 | 504 | NA | 264 |
|
Alanine aminotransferase (U/L)
(NRV = 5–50) |
85 | 187 | 999 | 123 | 138 |
|
Aspartate aminotransferase (U/L)
(NRV = 10–60) |
400 | 271 | 610 | 711 | 405 |
| Gamma-glutamyl transferase (GGT) (NRV = 7–32) | 152 | 74 | 599 | 380 | 72 |
| Lactic acid (NRV < 2.0) | 1.8 | 5.3 | NA | NA | 2.4 |
| US findings | Hepatomegaly heterogeneous echogenicity. | Hepatomegaly with lobular surface suggesting cirrhosis. Dysplastic nodules; ascites. | Homogeneous hepatosplenomegaly. | NA | Enlarged liver (10.7 cm in length) and spleen (8.6 cm in length) with normal echotextures. |
| Echocardiogram findings | Left ventricle diameter in the upper limits of the normal reference range for age. | Normal | NA | NA | Moderate dilatation of the left ventricle (Z score = +5.7) with normal systolic function. Resolved after LT. |
| Liver biopsy findings | Bridging fibrosis with thick septa (Laennec grade 4C) with regenerative nodule organization; features of storage disease. | Portal and periportal bridging fibrosis (stage 3/4). Histology shows features of storage disease. | NA | Hepatic fibrosis. Lobular Langerhans cell infiltration was not observed. | Findings are bordering on cirrhosis. Inclusions positive for PAS and PAS-D. The inclusions strongly positive for colloidal iron. |
NA—not available.