Wolman disease (Q65100): Difference between revisions
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A doença de Wolman representa a manifestação mais grave da deficiência de lipase ácida lisossômica pode se manifestar no feto (hepatomegalia, ascite, glândulas adrenais calcificadas) ou, mais comumente, nas primeiras semanas de vida com distensão abdominal e hepatoesplenomegalia grave ou mesmo maciça (que pode ocorrer no período neonatal) e às vezes ascite e glândulas adrenais calcificadas. | |||
| description / en | description / en | ||
Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency and can present in the fetus (hepatomegaly, ascites, calcified adrenal glands), or more typically in the first weeks of life with abdominal distension and major or even massive hepatosplenomegaly (which can occur in the neonatal period) and sometimes ascites and calcified adrenal glands. | |||
Revision as of 12:49, 14 August 2026
Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency and can present in the fetus (hepatomegaly, ascites, calcified adrenal glands), or more typically in the first weeks of life with abdominal distension and major or even massive hepatosplenomegaly (which can occur in the neonatal period) and sometimes ascites and calcified adrenal glands.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_520367511 |
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| English | Wolman disease |
Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency and can present in the fetus (hepatomegaly, ascites, calcified adrenal glands), or more typically in the first weeks of life with abdominal distension and major or even massive hepatosplenomegaly (which can occur in the neonatal period) and sometimes ascites and calcified adrenal glands. |
