Autopsy findings in two siblings with infantile Refsum disease

1992 ◽  
Vol 83 (2) ◽  
pp. 190-195 ◽  
Author(s):  
C. W. Chow ◽  
A. Poulos ◽  
A. J. Fellenberg ◽  
J. Christodoulou ◽  
D. M. Danks
Keyword(s):  
Refsum Disease ◽  
Autopsy Findings ◽  
Infantile Refsum Disease

Hepatic peroxisomes are deficient in infantile refsum disease: A cytochemical study of 4 cases

1986 ◽  
Vol 25 (2) ◽  
pp. 257-271 ◽  
Author(s):  
Frank Roels ◽  
Alfons Cornelis ◽  
Bwee Tien Poll-The ◽  
Patrick Aubourg ◽  
Helène Ogier ◽  
...  
Keyword(s):  
Refsum Disease ◽  
Cytochemical Study ◽  
Infantile Refsum Disease

scholarly journals Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.

1986 ◽  
Vol 83 (16) ◽  
pp. 6156-6158 ◽  
Author(s):  
A. W. Schram ◽  
A. Strijland ◽  
T. Hashimoto ◽  
R. J. Wanders ◽  
R. B. Schutgens ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Refsum Disease ◽  
Beta Oxidation ◽  
Infantile Refsum Disease

Infantile Refsum disease: deficiency of catalase-containing particles (peroxisomes), alkyldihydroxyacetone phosphate synthase and peroxisomal β-oxidation enzyme proteins

1986 ◽  
Vol 145 (3) ◽  
pp. 172-175 ◽  
Author(s):  
R. J. A. Wanders ◽  
R. B. H. Schutgens ◽  
G. Schrakamp ◽  
H. van den Bosch ◽  
J. M. Tager ◽  
...  
Keyword(s):  
Refsum Disease ◽  
Infantile Refsum Disease ◽  
Oxidation Enzyme ◽  
Phosphate Synthase

scholarly journals Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Omar Elghawy ◽  
Alice Y. Zhang ◽  
Ryan Duong ◽  
William G. Wilson ◽  
Eugene Y. Shildkrot
Keyword(s):  
Hearing Loss ◽  
Docosahexaenoic Acid ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Cholic Acid ◽  
Phytanic Acid ◽  
Sensorineural Hearing ◽  
Refsum Disease ◽  
Restricted Diet ◽  
Infantile Refsum Disease

Infantile Refsum disease is a rare peroxisomal biogenesis disorder characterized by impaired alpha-oxidation and accumulation of phytanic acid in the tissues. Patients often present with fundus changes resembling retinitis pigmentosa, developmental delay, sensorineural hearing loss, ataxia, and hepatomegaly. Traditionally, mainstay treatment for this condition has been a phytanic acid-restricted diet, although supplementation with either docosahexaenoic acid or cholic acid has rarely been described in the literature. We present a case of infantile Refsum disease in a child with retinitis pigmentosa-like ocular findings, sensorineural hearing loss, and self-resolving hepatic disease, who developed novel findings of macular edema refractory to carbonic anhydrase inhibitors. We describe management with a phytanic acid-restricted diet and combination docosahexaenoic acid, and cholic acid therapy, which helped to limit progression of her disease.

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

PEDIATRICS ◽  
2016 ◽  
Vol 137 (6) ◽  
pp. e20153102-e20153102 ◽  
Author(s):  
M. Matsunami ◽  
N. Shimozawa ◽  
A. Fukuda ◽  
T. Kumagai ◽  
M. Kubota ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Living Donor ◽  
Living Donor Liver Transplantation ◽  
Refsum Disease ◽  
Donor Liver ◽  
Heterozygous Parent ◽  
Donor Liver Transplantation ◽  
Infantile Refsum Disease

Infantile Refsum Disease

1992 ◽  
Vol 14 (1) ◽  
pp. 83-85 ◽  
Author(s):  
Hanna Mandel ◽  
Dan Meiron ◽  
Ruud B. H. Schutgens ◽  
Ronald J. A. Wanders ◽  
Moshe Berant
Keyword(s):  
Refsum Disease ◽  
Infantile Refsum Disease
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