Table 1 Summary of Patients' clinical data
Clinical features | Patients | |||||||
|---|---|---|---|---|---|---|---|---|
| Â | A-II-1 | B-II-1 | C-II-2 | C-II-1 | D-II-2 | E-II-1 | E-II-2 | F-II-1 |
Age/sex | 42 y (F) | 1 y (M) | 12 y (M) | 13 y (M) | 9 y (M) | 8 y (M) | 6 y (M) | 16 y M) |
Place of origin | Molise | Egypt | Palestine | Palestine | Greece-Cyprio | Greece | Greece | Sicily |
Consanguinity | No | Yes | Yes | Yes | No | No | No | No |
Lipid vacuoles in | Granulocytes and monocytes | Granulocytes, monocytes, skin, liver, bone marrow, epidermal Langerhans cells | Granulocytes, monocytes, skin | Granulocytes, monocytes, skin | Granulocytes, keratinocytes, fibroblasts, endothelial cells | Granulocytes, monocytes, skin | Granulocytes, monocytes, skin | Granulocytes, monocytes, skin, liver |
Liver disease | Severe steatosis, splenomegaly, portal hypertension | Hepatosplenomegaly, steatosis | NE | NE | Hepatomegaly | Hepatomegaly, fatty infiltration, lobular fibrosis | Hepatomegaly, fatty infiltration, lobular fibrosis | Hepatomegaly |
NCIE | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Myopathy | No | Yes | Mild | Mild | Mild | No | No | No |
Ophtalmological (Ophthalmologic examination) | Cataracts | Bilateral ectropion | Cataracts (Nuclear) | Cataracts (Nuclear) | microcataracts, myopia (Nuclear) | Cataracts | Cataracts | No |
Deafness | Hypoacusia | No | Yes | Yes | No | No | No | No |
CNS abnormalities | No | No | Neurological retardation | Neurological retardation | No | No | No | No |
Altered biochemical analysis | AST, ALT | Triglycerides, AST | Serum muscle enzymes | Serum muscle enzymes | ALT, GGT, Serum muscle enzymes | AST, ALT, GGT | AST, ALT, GGT | GGT, transient increase of serum transaminases |
Others | No | Umbilical hernia | Short stature, peculiar facial appearance | Mild lateral facial weakness | No | Short stature | No | Looking rather older than his age |
Reported by | N. Ronchetti | Z. EI-Kabbany | M.L. Williams | M.L. Williams | M.R. Judge | T. Kakourou | T. Kakourou | D. Mela |