Zellweger syndrome

What this deck covers

Zellweger syndrome in fourteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fourteen cases you are asked to choose between options such as: Macroglossia and umbilical hernia, Rocker-bottom feet and clenched fists, Low birth weight and temperature instability, Zellweger syndrome (peroxisome biogenesis disorder), Neonatal lupus erythematosus, Congenital rubella syndrome, Glycogen storage disease type II (Pompe disease), Cortical thickening of long bones, Osteopetrosis with a bone-in-bone appearance, Periosteal reaction suggesting metaphyseal fractures, Chondrodysplasia punctata (stippled epiphyses), Urine organic acids, Serum quantitative amino acids, Serum copper and caeruloplasmin, Periventricular leukomalacia with cystic changes, Dandy-Walker malformation with posterior fossa cysts, Bilateral subdural haematomas with midline shift, Polymicrogyria with leukodystrophy and germinolytic cysts, Elevated pipecolic acid in CSF, Severity of hypotonia, Family history of consanguinity, Monthly ACTH stimulation to restore adrenal function, Licorice-root extract as a natural mineralocorticoid.

Clinical pearls from this deck

• Multi-organ involvement is what separates Zellweger from every other cause of neonatal hypotonia. Sensorineural hearing loss occurs in over 90%, renal cortical cysts are highly characteristic on ultrasound, and the craniofacial triad is high forehead, flat nasal bridge and epicanthal folds.
• The craniofacial triad plus hepatomegaly plus profound hypotonia should trigger a plasma VLCFA request the same day. High forehead with large widely-spaced fontanelles, hypoplastic supraorbital ridges, and a broad flat nasal bridge with epicanthal folds is the recognisable Zellweger face.

The fourteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.