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Journals / Türk Pediatri Arşivi / 2012 / Cilt: 47 - Sayı: 4

A rare cause of non-immune hydrops fetalis: Congenital sialidosis

Nadir bir immün olmayan hidrops fetalis nedeni: Doğumsal siyalidoz

Ayla Eker SARIBOYACI
Ercan TUTAK
Cemal KARA
Necip Cihangir YILANLIOĞLU
Altuğ SEMİZ
Pages
290–293
Publication Date
2022-11-05
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In cases with hydrops fetalis which can have various etiologies, careful examination of the peripheral smear is very important in the differential diagnosis in addition to detailed familial history and physical examination.

📌 3 Key Takeaways

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Objective & Hypothesis:Sialidosis is a rare congenital lysosomal storage disease with autosomal recessive transmission caused by a deficiency of alpha-N-acetylneuraminidase (sialidase).
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Key Findings & Data:It was learned that the first pregnancy of the mother ended in spontaneous abortion and the second pregnancy was ended up with intrauterine exitus due to hydrops fetalis in the 28th gestational age.
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Conclusion & Impact:In cases with hydrops fetalis which can have various etiologies, careful examination of the peripheral smear is very important in the differential diagnosis in addition to detailed familial history and physical examination.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Sialidosis is a rare congenital lysosomal storage disease with autosomal recessive transmission caused by a deficiency of alpha-N-acetylneuraminidase (sialidase). The findings begin in the intrauterine period in congenital type of sialidosis and the cases die in the postnatal period due to hydrops fetalis with multiorgan failure. Here, a case of premature baby born to a consanguineous parents and diagnosed as sialidosis with hydrops fetalis is presented. It was learned that the first pregnancy of the mother ended in spontaneous abortion and the second pregnancy was ended up with intrauterine exitus due to hydrops fetalis in the 28th gestational age. On the first physical examination, generalized edema, abdominal distantion due to hepatomegaly and generalized ascites was observed. Direct hyperbilirubinemia and cytoplasmic vacuoli in the lymphomonocyte series in both the bone marrow and peripheral blood smear were detected. The same vacuoli were also observed in hepatocytes in the hystopathological sections of the liver biopsy. Sialidosis was diagnosed by showing that there was no activity of sialidase enzyme in the fibroblast culture. The case died due to cardiorespiratory insufficiency on the 53rd day of admission. In cases with hydrops fetalis which can have various etiologies, careful examination of the peripheral smear is very important in the differential diagnosis in addition to detailed familial history and physical examination.

Özet

Siyalidoz; alpha-N-asetil-nöraminidaz (siyalidaz) enziminin eksikliği nedeniyle oluşan otozomal çekinik geçişli nadir bir kalıtsal lizozomal depo hastalığıdır. Doğumsal siyalidozda bulgular doğum öncesinde başlar ve olgular hidrops fetalis ile doğum sonrası dönemde çoklu organ yetersizliği sonucu kaybedilir. Burada akraba evliliği olan bir aileden hidrops fetalis ile doğan ve siyalidoz tanısı konulan bir erken doğmuş bebek olgusu sunuldu. Annenin birinci gebeliğinin ilk üç ayında düşükle, ikinci gebeliğinin hidrops fetalis nedeni ile 28. gestasyonel haftada anne karnında ölüm ile sonuçlandığı öğrenildi. Olgunun yapılan ilk fizik muayenesinde anazarka tarzında ödem, yaygın asit ve karaciğer büyüklüğüne bağlı karın gerginliği gözlendi. Direkt hiperbilirübinemi, kemik iliğinde ve periferik yaymada lenfomonositer seri hücrelerin sitoplazmalarında vaküoller görüldü. Benzer vaküollar karaciğer biyopsi örneğinde hepatositlerde de gözlendi. Fibroblast kültüründe siyalidaz enzim aktivitesinin hiç olmadığı gösterilerek siyalidoz tanısı konuldu. Olgu 53. gününde dolaşım ve solunum yetersizliği nedeni ile kaybedildi. Etiolojisinde yüzlerce hastalığın yer aldığı hidrops fetalisli olgularda dikkatli öykü, fizik muayene yanında periferik yaymanın dikkatli incelenmesi ayırıcı tanıda çok önemlidir.

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Cite This Article

SARIBOYACI, A. E., TUTAK, E., KARA, C., YILANLIOĞLU, N. C., SEMİZ, A. (2022). A rare cause of non-immune hydrops fetalis: Congenital sialidosis. Türk Pediatri Arşivi, Cilt: 47 - Sayı: 4, 290–293. https://ajindex.com/articles/641364

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