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Multisystem triglyceride storage disorder without ichthyosis in two siblings
Author(s) -
Wessalowski R,
Schroten H,
NeuenJacob E,
Reichmann H,
Melnik BC,
Lenard HG,
Voit Th
Publication year - 1994
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1994.tb12960.x
Subject(s) - ichthyosis , medicine , endocrinology , triglyceride , myopathy , cholesterol , dermatology
Wessalowski R, Schroten H, Neuen‐Jacob E, Reichmann H, Melnik BC, Lenard HG, Voit Th. Acta Paediatr 1994;83:93–8. Stockholm. ISSN 0803–5253 A four‐year‐old boy presented with hepatomegaly, vacuolized granulocytes (Jordans' anomaly) and slightly progressive myopathy as signs of multisystem triglyceride storage disease. The nine‐year‐old sister of the patient also showed Jordans' anomaly and early fatigability, but no overt weakness. Biochemical analysis revealed normal values for carnitines, carnitine palmityl transferase in serum and striated muscle, and β‐oxidation enzymes in striated muscle. Distribution of non‐membrane‐bound lipids in granulocytes, fibroblasts, smooth muscle cells and striated muscle was compatible with Chanarin‐Dorfman syndrome. In contrast to Chanarin‐Dorfman syndrome, our patients lacked congenital ichthyosis.