Case Report: A case report and literature review of hemoglobin variation associated with neonatal cyanosis

被引:0
|
作者
Chen, Yanru [1 ]
Lv, Jingwen [1 ]
Qian, Jihong [1 ]
机构
[1] Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Neonatol, Shanghai, Peoples R China
来源
FRONTIERS IN PEDIATRICS | 2024年 / 12卷
关键词
neonatal cyanosis; anemia; neonatal outcome; hypoxia; whole-exome sequencing; F-M-OSAKA; FORT-RIPLEY;
D O I
10.3389/fped.2024.1334757
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
We will discuss a recent case of unexplained neonatal cyanosis, evaluate its origin, clinical presentation, diagnosis, and treatment, and share with you some of our clinical insights. We report a transient cyanosis in a newborn due to a mutation in the globulin gene (HBG2), as well as diagnosis and treatment. Clinically, the infant was in good overall health, and despite low oxygen saturation, the arterial oxygen partial pressure was always normal. Early respiratory support includes mechanical ventilation, nasal tube oxygen, and eventually stopping oxygen therapy. With the above treatment measures, the blood oxygen saturation of the child always fluctuated at 85%, but the arterial blood oxygen partial pressure was up to 306 mmHg. Further improvement of laboratory tests revealed elevated methemoglobin levels, reticulocytosis, mild anemia, and basically normal on chest x-ray and echocardiography. To clarify the etiology, WES testing was performed. The results showed heterozygous variation in HBG2 gene (c.190C>T. p.H64Y). There is heterozygous variation at this site in the proband father, and no variation at this site in the proband mother. Given the age of the affected infants, we hypothesized that the mutation originated in the gamma peptide chain of the head protein. The baby was discharged from the hospital 10 days after birth, with blood oxygen saturation fluctuating around 90%. The cyanosis disappeared 2 months after discharge, and the blood oxygen saturation level returned to normal.
引用
收藏
页数:4
相关论文
共 50 条
  • [1] Hemoglobin Kansas as a Rare Cause of Cyanosis: A Case Report and Review of the Literature
    Nagayama, Yoshikuni
    Yoshida, Minoru
    Kohyama, Tadashi
    Matsui, Katsuyuki
    INTERNAL MEDICINE, 2017, 56 (02) : 207 - 209
  • [2] Neonatal iliopsoas abscess presenting with transient cyanosis of a single extremity: a case report and review of the literature
    Akin, Mustafa Senol
    Agackiran, Damla
    Unal, Emre
    Yavuz, Ozlem Ozkale
    Yigit, Sule
    TURKISH JOURNAL OF PEDIATRICS, 2020, 62 (01) : 160 - 164
  • [3] Neonatal Dermatophytosis: Report of a Case and Review of the Literature
    Atanasovski, Marijana
    El Tal, Abdel Kader
    Hamzavi, Fasahat
    Mehregan, David A.
    PEDIATRIC DERMATOLOGY, 2011, 28 (02) : 185 - 188
  • [4] Neonatal babesiosis - Case report and review of the literature
    Fox, LAM
    Wingerter, S
    Ahmed, A
    Arnold, A
    Chou, J
    Rhein, L
    Levy, O
    PEDIATRIC INFECTIOUS DISEASE JOURNAL, 2006, 25 (02) : 169 - 173
  • [5] Neonatal Parotitis: A Case Report and Review of the Literature
    Pollenus, Julie
    Van Lierde, Stefaan
    PEDIATRIC INFECTIOUS DISEASE JOURNAL, 2023, 42 (09) : E323 - E327
  • [6] Neonatal Rhabdomyolysis: A Case Report and Review of the Literature
    Uzun, Ozlem Unal
    Cinar, Muge
    Ister, Meral Bahar
    Esgi, Merve
    Kara, Bulent
    Pehlevan, Ozge Serce
    NEUROPEDIATRICS, 2025,
  • [7] Neonatal melioidosis: A case report and review of the literature
    Noraida, R
    Van Rostenberghe, H
    Pauzi, WIW
    FAOPS 2004: PROCEEDINGS OF THE 13TH CONGRESS OF THE FEDERATION OF ASIA AND OCEANIA PERINATAL SOCIETIES FAOPS 2004, 2004, : 159 - 162
  • [8] Neonatal Myxomas: Case Report and Literature Review
    Pasternack, Daniel M.
    Sharma, Madhu
    Colavito, John
    Ramirez, Michelle M.
    Martinez, Michael J.
    Chakravarti, Sujata
    Mosca, Ralph
    Kumar, T. K. Susheel
    WORLD JOURNAL FOR PEDIATRIC AND CONGENITAL HEART SURGERY, 2022, 13 (06) : 770 - 776
  • [9] Neonatal septoplasty: Case report and review of the literature
    Emami, AJ
    Brodsky, L
    Pizzuto, M
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 1996, 35 (03) : 271 - 275
  • [10] Cutaneous neonatal lupus: a case report and review of the literature
    Moretti, Davide
    Cimaz, Rolando
    Vannucci, Gaia
    Marino, Achille
    De Martino, Maurizio
    Greco, Antonella
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2014, 53 (12) : 1508 - 1512