presentation Aluloska N. 1 , Palcevska S. 1 , Papazovska A. 1 , - - PowerPoint PPT Presentation

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Aug 21, 2022 377 likes •457 views

Sy Zellweger- un unusual presentation Aluloska N. 1 , Palcevska S. 1 , Papazovska A. 1 , Zdraveska N. 1 , Tasic V. 2 , Peter M. 3 1 Neonatology and 2 Nephrology Departments, University Childrens Hospital, Skopje, Macedonia 3 Screening

SLIDE 1

Sy Zellweger- un unusual presentation

Aluloska N.1, Palcevska S.1, Papazovska A.1, Zdraveska N.1, Tasic V.2, Peter M.3

1Neonatology and 2Nephrology Departments, University Children’s Hospital,

Skopje, Macedonia

3Screening Laboratory, Hannover, Germany

SLIDE 2

Case history

A two 2 week old baby was admitted on the

Department of Neonatology for nephrologic work up.

There was a positive prenatal finding for enlarged

hyperechogenic kidneys.

There was a positive family history for polylethality

without proper medical documentation.

On the department severe hypotonia was noted. Also

there was dysmorphic facial appearance. Other extrarenal abnormalities included: redundant neck skin, ventricular septal defect, and talipies

equinovarus. Poor feeding and respiratory distress

were noted.

SLIDE 3

Body structure and prominent facial dysmoprphic features

SLIDE 4

Imaging studies

Kidney US- Both kidneys were massively enlarged, hyperechogenic with diffusely distributed small cysts and poor cortico- medullary differentiation. No major morphological changes were detected on CNS ultrasound and MRI apart from somewhat dilated chamber system, a condition post intracranial hemorrhage.

SLIDE 5

Differential diagnosis

The family history is negative for kidney diseases
Both parents had normal kidney US
ARPKD ???
ARPD + Spinal muscular atrophy (Werdnig Hoffman)
Kleefstra syndrome (9q34.3microdeletion)-facial

dysmorphy, hypotonia, congenital heart disease, renal defects

Joubert syndrome- hypotonia, facial dysmorphy,

cystic kidneys, molar tooth sign

Zellweger syndrome???

SLIDE 6

Zellweger syndrome

ZWS is the most common peroxisomal disorder
Prevalence 1:50.000 do 1:100.000
Fatal in infancy
Elevated very long chain fatty acids from the dried

spot were established.

Dihydroxycholestanoic acid (DHCA): 0.9 μmol/L (Ref.:

< 0.1 μmol/L)

Trihydroxycholestanoic acid (THCA): 5.6 μmol/L (Ref.:

0-0.1 μmol/L)

Next Generation Sequencing – panel for Zellweger