Ultrasonography in Zellweger Syndrome: Spectrum of Early Findings

Abstract

Aim: Zellweger syndrome (ZS), also known as cerebrohepatorenal syndrome, is a rare and severe peroxisomal biogenesis disorder that involves multiple organ systems. The affected subjects are mostly symptomatic in the neonatal or early infantile period. Bedside ultrasonography (US) is a safe and repeatable method that allows combined imaging of the abdomen and head in neonates and infants. This study aimed to investigate the spectrum of early abnormalities in bedside US examinations of the head and abdomen in a population of children with ZS. Materials and Methods: US images of the head and abdomen in nine children diagnosed with ZS syndrome were analyzed retrospectively to identify the characteristics and frequencies of abnormal findings. Results: Subependymal germinolytic cysts were the most frequent finding in head USs. Mild-to-moderate ventricular dilation, lenticulostriate vasculopathy, and thinning of the corpus callosum were among the associated findings. The kidneys showed increased cortical echogenicity and preservation of the medullar hypoechogenicity in all; 8 out of 9 patients had subcapsular cysts and 7 had small and irregular medullae. Increased periportal echogenicity, gallbladder edema, and biliary sludge were identified in 4 patients. One patient had a cystic pancreatic lesion that had not been previously reported in ZS. Conclusion: The cerebral findings of ZS are well-defined in magnetic resonance imaging, however, combined ultrasonographic findings of the cerebrum and abdomen in this syndrome are rarely reported. As a safe, readily available, and repeatable imaging method, bedside US can be used in neonates and infants to identify the multisystem findings of ZS.

Keywords

• Peroxisomal disorders
• Ultrasonography
• Zellweger syndrome

Zellweger Sendromunda Ultrasonografi: Erken Bulgular

Abstract

Amaç: Serebrohepatorenal sendrom olarak da bilinen Zellweger sendromu (ZS), çoklu organ sistemlerini etkileyen nadir ve ciddi bir peroksizomal biyogenez bozukluğudur. Etkilenen kişiler çoğunlukla yenidoğan veya erken çocukluk döneminde semptomatiktir. Yatak başı ultrasonografi (US), yenidoğan ve süt çocuklarında abdomen ve serebrumun birlikte görüntülenmesini sağlayan güvenli ve tekrarlanabilir bir yöntemdir. Bu çalışmada, ZS'li bir çocuk popülasyonunda serebrum ve abdomenin yatak başı US incelemelerindeki erken dönemdeki bulgular spektrumunu araştırmayı amaçlandı. Gereç ve Yöntem: ZS sendromu tanısı alan dokuz çocuğun serebrum ve abdomen US görüntüleri, anormal bulguların özelliklerini ve sıklığını belirlemek amacıyla retrospektif olarak analiz edildi. Bulgular: Serebrum ultrasonlarında en sık görülen bulgu subependimal germinolitik kistler idi. Hafif- orta dereceli ventriküler genişleme, lentikülostriat vaskülopati ve korpus kallosumun incelmesi diğer ilişkili bulgular arasındaydı. Böbreklerde kortikal ekojenitenin arttığı ve tüm hastalarda medüller hipoekojenitenin korunduğu görüldü; 9 hastanın 8'inde subkapsüler kistler, 7'sinde ise küçük ve düzensiz medullalar mevcuttu. Dört hastada artmış periportal ekojenite, safra kesesi ödemi ve safra çamuru tespit edildi. Bir hastada daha önce ZS'de bildirilmemiş kistik pankreas lezyonu vardı. Sonuç: ZS'nin serebral bulguları manyetik rezonans görüntülemede iyi tanımlanmıştır, ancak bu sendromda serebrum ve abdomenin kombine ultrasonografik bulguları nadiren bildirilmektedir. Güvenli, kolay ulaşılabilir ve tekrarlanabilir bir görüntüleme yöntemi olarak yatak başı US, yenidoğanlarda ve bebeklerde ZS'nin çoklu sistem bulgularını saptamada kullanılabilir.

Keywords

• Peroksizomal hastalıklar
• Ultrasonografi
• Zellweger sendromu

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