Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up

1995 ◽  
Vol 18 (3) ◽  
pp. 333-340 ◽  
Author(s):  
J. Amiel ◽  
J. C. Maziere ◽  
I. Beucler ◽  
M. Koenig ◽  
L. Reutenauer ◽  
...  
Keyword(s):  
Vitamin E ◽  
Large Family ◽  
Extensive Study ◽  
Vitamin E Deficiency

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families

2004 ◽  
Vol 25 (3) ◽  
pp. 130-137 ◽  
Author(s):  
C. Mariotti ◽  
C. Gellera ◽  
M. Rimoldi ◽  
R. Mineri ◽  
G. Uziel ◽  
...  
Keyword(s):  
Vitamin E ◽  
Novel Mutations ◽  
Vitamin E Deficiency ◽  
Neurological Phenotype

scholarly journals Brown Bowel Syndrome Is a Rare and Commonly Missed Disease: A Case Report and Literature Review

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Joaquin Ponce-Zepeda ◽  
Wenchang Guo ◽  
Giorgioni Carmen ◽  
Daniel Moon Kim ◽  
Gregory C. Albers ◽  
...  
Keyword(s):  
Vitamin E ◽  
Small Bowel ◽  
Chronic Diarrhea ◽  
Muscularis Propria ◽  
Mitochondrial Damage ◽  
Vitamin E Deficiency ◽  
Case Presentation ◽  
History Of ◽  
Resected Small Bowel

Background. Brown bowel syndrome (BBS) is a rare gastrointestinal condition, and vitamin E deficiency has been considered to be a main contributor. However, vitamin E deficiency has been found in only a few patients throughout the published literature studies and its cutoff lab value for diagnosis is not entirely clarified. Case Presentation. A 56-year-old female patient with a history of congenital bowel obstruction (repaired at birth) presented with bloating, abdominal pain, and chronic diarrhea. Endoscopy identified unremarkable gastrointestinal mucosa except a few small polyps in the colon. A partial obstruction was detected by a small bowel follow-through series and then confirmed by CT scan. The resected small bowel was significantly dilated with a thickened brown wall and extensive serosal adhesion. Microscopic examination revealed unremarkable mucosa, but dense granular brown pigments were identified in the cytoplasm of the smooth muscle cells in the muscularis propria. These deposits resulted to be lipofuscin, and BBS was diagnosed. The patient was asymptomatic at 9-month follow-up after surgery without vitamin E supplement. Conclusion. Mitochondrial damage with lipofuscin deposition is at the root of BBS pathogenesis. Any etiology associated with mitochondrial damage can cause this disease, and vitamin E deficiency is just one of them. Dysmotility from extensive serosal adhesion could be a possible etiology for this patient. Due to overlapping symptoms, lipofuscin deposition primarily in the muscularis propria, and unclear serum value of vitamin E, this syndrome is often missed in routine clinical practice from the superficial biopsy. A transmural biopsy is necessary for a definite diagnosis.

Vitamin E Deficiency in Variant Angina

Circulation ◽  
1996 ◽  
Vol 94 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Kunihisa Miwa ◽  
Yuko Miyagi ◽  
Akihiko Igawa ◽  
Keiko Nakagawa ◽  
Hiroshi Inoue
Keyword(s):  
Vitamin E ◽  
Variant Angina ◽  
Vitamin E Deficiency

scholarly journals Serum Vitamin E Deficiency among HIV-Infected Individuals Undergoing Antiretroviral Therapy at Ho Teaching Hospital, Ghana

Heliyon ◽  
2021 ◽  
pp. e07339
Author(s):  
Daniel Edem Kpewou ◽  
Faustina O. Mensah ◽  
Collins A. Appiah ◽  
Huseini Wiisibie Alidu ◽  
Vitus Sambo Badii
Keyword(s):  
Vitamin E ◽  
Antiretroviral Therapy ◽  
Teaching Hospital ◽  
Serum Vitamin ◽  
Vitamin E Deficiency

scholarly journals Selenium and Vitamin E Deficiency in Pigs

1979 ◽  
Vol 20 (2) ◽  
pp. 289-305
Author(s):  
M. G. Simesen ◽  
H. E. Nielsen ◽  
V. Danielsen ◽  
G. Gissel-Nielsen ◽  
W. Hjarde ◽  
...  
Keyword(s):  
Vitamin E ◽  
Vitamin E Deficiency

scholarly journals Vitamin E deficiency ataxia in a family with possible cardiac involvement

2020 ◽  
Author(s):  
S. Lucas-Del-Pozo ◽  
D. Moreno-Martínez ◽  
M. Tejero-Ambrosio ◽  
J. Hernández-Vara
Keyword(s):  
Vitamin E ◽  
Cardiac Involvement ◽  
Vitamin E Deficiency
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