Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.
Fetal Pediatr Pathol
; 41(3): 526-528, 2022 Jun.
Article
em En
| MEDLINE
| ID: mdl-33966594
Background: Jordans' anomaly is characterized by lipid vacuoles in granulocytes which are observed in neutral lipid storage diseases like Chanarin-Dorfman syndrome. Case report: This six-year-old boy had skin ichthyosis, elevated liver enzymes, and prominent vacuoles in neutrophils, eosinophils, monocytes, and basophils (Jordans' anomaly), leading to the diagnosis of Chanarin-Dorfman Syndrome, which was successfully treated with medium-chain triglyceride oil. Conclusion: Jordans' anomaly is a red flag for the diagnosis of neutral lipid storage diseases especially in patients with ichthyosis and elevated liver enzymes.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Eritrodermia Ictiosiforme Congênita
/
Ictiose
Tipo de estudo:
Diagnostic_studies
Limite:
Child
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Humans
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Male
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article