Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings.

Abstract:

:The authors present a report on two sibling with a nearly identical phenotype mimicking peroxisomal disorder but with totally discordant biochemical findings. In an attempt to confirm the diagnosis of a peroxisomal disorder, plasma levels of very long chain fatty acids (VLCFA) and phytanic acid were determined. In addition, fibroblasts profile of VLCFA and plasmalogen levels were evaluated for Case 2. Pathomorphological examinations represented by lymph node and kidney biopsies as well as postmortem examinations of liver, adrenals and brain were performed in Case 1. The phenotypes of both siblings showed marked resemblance to those observed in children with Zellweger syndrome. The results of biochemical tests performed in Case 1, together with abundant peroxisomes in the liver and the wide spectrum of clinical abnormalities suggest pseudo-Zellweger or Zellweger-like syndromes, but no conclusive data have been found. The plasmalogen level in fibroblasts as well as the fibroblasts profile of VLCFA noted in Case 2 were within the normal range, thus excluding the possibility of a peroxisomal disorder. The striking phenotype resemblance of the siblings mimicking Zellweger, together with discordant biochemical findings, are difficult to explain on the basis of currently available tests.

journal_name

Clin Pediatr (Phila)

journal_title

Clinical pediatrics

authors

Pietrzyk JJ,Turowska-Heydel D,Klimek M,Kaczmarski F,Kaluza J

doi

10.1177/000992289002900814

subject

Has Abstract

pub_date

1990-08-01 00:00:00

pages

479-84

issue

8

eissn

0009-9228

issn

1938-2707

journal_volume

29

pub_type

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