Laporan kasus: bayi usia 4 bulan dengan kecurigaan hemofagositik limfohistiositosis (HLH) di RSUP Prof. Dr. I.G.N.G. Ngoerah
- pdf |
- DOI: https://doi.org/10.15562/ism.v14i2.1806 |
- Published: 2023-08-29
Open Access & Peer Reviewed
Multidisciplinary Journal of Science and
Medical Research
Multidisciplinary Journal of Science and
Medical Research
Abstract
-Background: Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by immune dysregulation. The incidence of this disease is approximately 1.2 cases per one million people each year. HLH is a life-threatening hyperinflammatory syndrome and can be divided into primary and secondary groups. Familial HLH (primary HLH) can be diagnosed under 1 year of age in 70-80% of cases. Patients with mutations in this gene resulting in complete loss of protein function, develop primary HLH in childhood. This study aims to report a case of an infant with suspicion of HLH at Prof. Dr. I.G.N.G. Ngoerah General Hospital.
Case report: A 4-month-old male infant patient came to the health facility with a chief complaint of fever. The fever has been fluctuating since August 1, 2020 and in the last 24 hours the patient has had a fever that has fluctuated 3 times. Other complaints such as cough, runny nose, shortness of breath, nosebleeds, bleeding gums, and red spots on the patient's body were denied by the patient's parents. On physical examination, schuffner III splenomegaly was found. Laboratory examination of hematology and femostasis faeces showed that there was a picture of hypocellular bone marrow with suspicion of metabolic disease, X-ray examination results showed suspected splenomegaly. The patient was diagnosed with observation of bicytopenia with splenomegaly et causa suspected HLH with differential diagnosis of Gaucher disease. The patient was finally given supportive therapy in the form of fluids, zinc peroral, and paracetamol if fever appeared.
Conclusion: This study reports a case of a 4-month-old male patient with suspicion of HLH. Examination showed that this patient met 5 of the 8 criteria based on the HLH-2004 guidelines.
Pendahuluan: Hemofagositik limfohistiositosis (HLH) adalah penyakit yang ditandai dengan disregulasi imun. Insiden dari penyakit ini sekitar 1,2 kasus per satu juta orang setiap tahunnya. HLH merupakan sindrom hiperinflamasi yang dapat membahayakan nyawa dan dapat dibagi menjadi kelompok primer dan sekunder. HLH familial (HLH primer) dapat didiagnosa pada usia dibawah 1 tahun pada 70-80% kasus. Pasien dengan mutasi pada gen ini yang mengakibatkan hilangnya fungsi protein secara total, berkembang menjadi HLH primer di masa anak-anak. Studi ini bertujuan untuk melaporkan sebuah kasus bayi dengan kecurigaan HLH di RSUP Prof. Dr. I.G.N.G. Ngoerah.
Laporan Kasus: Pasien bayi laki-laki berusia 4 bulan datang ke fasilitas kesehatan dengan keluhan utama demam. Demam naik turun sejak tanggal 1 Agustus 2020 dan dalam 24 jam terakhir pasien mengalami demam yang naik turun sebanyak 3 kali. Keluhan lain seperti batuk, pilek, sesak, mimisan, gusi berdarah, dan bintik merah pada tubuh pasien disangkal oleh orang tua pasien. Pada pemeriksaan fisik ditemukan splenomegali schuffner III. Pemeriksaan laboratorium hematologi dan faal femostasis menunjukkan bahwa terdapat gambaran sumsum tulang hiposeluler dengan kecurigaan penyakit metabolik, hasil pemeriksaan rontgen menunjukkan adanya suspek splenomegali. Pasien terdiagnosis dengan observasi bisitopenia dengan splenomegali et causa suspek HLH dengan diagnosis banding penyakit Gaucher. Pasien akhirnya diberikan terapi suportif berupa cairan, zinc peroral, dan parasetamol jika demam muncul.
Simpulan: Studi ini melaporkan satu kasus pasien laki-laki berusia 4 bulan dengan kecurigaan HLH. Pemeriksaan yang telah dilakukan menunjukkan bahwa pasien ini memenuhi 5 dari 8 kriteria berdasarkan pedoman HLH-2004.
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How to Cite
Gacchanti, A. A. I. R., & Wirawati, I. A. P. (2023). Laporan kasus: bayi usia 4 bulan dengan kecurigaan hemofagositik limfohistiositosis (HLH) di RSUP Prof. Dr. I.G.N.G. Ngoerah. Intisari Sains Medis, 14(2), 797–801. https://doi.org/10.15562/ism.v14i2.1806
