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Journals / İzmir Tepecik Eğitim Hastanesi Dergisi / 2009 / Cilt: 19 - Sayı: 3

A case of familial hemophagocytic lymphohistiocytosis in association with cytomegalovirus infection

Sitomegalovirüs infeksiyonunun eşlik ettiği ailevi hemofagositik lenfohistiyositoz olgusu

Zümrüt ŞAHBUDAK
Meral TÜRKER
Işın YAPRAK
Oya HALICIOĞLU
Berna ATABAY
Pages
153–156
DOI
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AI Summary & Key Takeaways

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

The patient is reported because of it's rarity and to emphasize the importance of genetic diagnosis and genetic counselling.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:We report a four-month old female patient brought to our hospital with prolonged fever and abdominal swelling.
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Key Findings & Data:Hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in the bone marrow were found.
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Conclusion & Impact:The patient is reported because of it's rarity and to emphasize the importance of genetic diagnosis and genetic counselling.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Süt çocuğu · Lenfohistiyositoz · hemofagositik

Abstract

We report a four-month old female patient brought to our hospital with prolonged fever and abdominal swelling. Hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in the bone marrow were found. Investigations for viral infections revealed high.CMV IGM antibody and CMV PCR positivity. Because of patient's young age, history of consanguineous marriage and an exitus history of a close relative in infacy, molecular genetic analysis was performed and perforin gene mutation was described in both the patient and the parents. The patient is reported because of it's rarity and to emphasize the importance of genetic diagnosis and genetic counselling.

Özet

Hastanemiz Çocuk Sağlığı ve Hastalıkları Süt Çocuğu Servisine bir aydır süregelen yüksek ateş, karın şişliği yakınmaları ile getirilen 4 aylık kız olgu hepatosplenenomegali, pansitopeni, hipertrigliseridemi, hiperferritinemi ve kemik iliği aspirasyonunda görülen yaygın hemofagositoz nedeniyle hemofagositik lenfohistiyositoz tanısı almış: Sitomegalovirüs (CMV) Immünglobulin (Ig) M antikor düzeyi yüksek, CMV-PCR pozitif bulunmuştur. Olgumuzun yaşı, soygeçmişinde akraba evliliği olması ve halanın erken süt çocukluğu döneminde benzer yakınmalarla kaybedilmiş olması nedenleri ile anne, baba ve hastadan alınan genetik mutasyon analizlerinde perforin gen mutasyonu saptanmıştır. Olgu nadir görülmesi ve Ailevi hemofagositik lenfohistiyositoz (AHLH)'de genetik tanı ve danışmanlığın önemini vurgulamak amacıyla sunulmuştur.

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Cite This Article

ŞAHBUDAK, Z., TÜRKER, M., YAPRAK, I., HALICIOĞLU, O., ATABAY, B. (2009). A case of familial hemophagocytic lymphohistiocytosis in association with cytomegalovirus infection. İzmir Tepecik Eğitim Hastanesi Dergisi, Cilt: 19 - Sayı: 3, 153–156. https://ajindex.com/articles/268582

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