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Retinal Renal Dysplasia and Encephalopathy in a Patient with Triglyceride Storage Disease

Published online by Cambridge University Press:  01 August 2014

M. Philippart ,
W. den Tandt ,
C. Borrone  and
P. Durand
M. Philippart
Affiliation:
III Medical Division, “G. Gaslini” Hospital, Genoa, Italy Neuropsychiatry Institute, University of California, Los Angeles, USA
W. den Tandt
Affiliation:
III Medical Division, “G. Gaslini” Hospital, Genoa, Italy Neuropsychiatry Institute, University of California, Los Angeles, USA
C. Borrone
Affiliation:
III Medical Division, “G. Gaslini” Hospital, Genoa, Italy Neuropsychiatry Institute, University of California, Los Angeles, USA
P. Durand*
Affiliation:
III Medical Division, “G. Gaslini” Hospital, Genoa, Italy Neuropsychiatry Institute, University of California, Los Angeles, USA
*
Istituto G. Gaslini, Via 5 Maggio, 16147 Genova Quarto, Italy

Abstract

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A 10-year-old girl with tapetoretinal degeneration, renal dysplasia similar to juvenile nephronophtisis, gradually increasing mental deterioration, walking incoordination, obesity, and ichthyosis is reported.

Hystochemical analyses of the liver, spleen, intestine, lungs, myocardium, kidney, and brain, showed a glycolipid storage. A triglyceride storage in the liver was identified.

Triglyceride lipase activity was about 1% and acid lipase activity 10% with respect to normal controls.

A genetic factor, rather than a secondary metabolic inhibition of triglyceride lipase, is indicated by the normal activity of this enzyme in fatty liver from patients with Reye's syndrome and alcoholic cirrhosis. No inhibitor was found in triglyceride storage disease.

Type
5. Free Contributions: First Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 201 - 203
Copyright
Copyright © The International Society for Twin Studies 1974

References

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