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Table 1 Summary of Patients' clinical data

From: Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Clinical features Patients
  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
  1. y, years; m, months; NE: not examined; AST, aspartate aminotransferase; ALT, alanine aminotransferase; GGT, γ-glutamyl transpeptidase; CPK, creatine phosphokinase; SGOT, serum glutamic oxaloacetic transaminase; SGPT, serum glutamic pyruvic transaminase; CNS, central nervous system; NCIE, nonbullous congenital ichthyosiform erytrhoderma
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172