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 Children’s Hospital, Skopje, Macedonia 3 Screening Laboratory, Hannover, Germany
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.
Body structure and prominent facial dysmoprphic features
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.
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???
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 μ mol/L (Ref.: < 0.1 μ mol/L) • Trihydroxycholestanoic acid (THCA): 5.6 μ mol/L (Ref.: 0-0.1 μ mol/L) • Next Generation Sequencing – panel for Zellweger spectrum(result pending)
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