Severe haemophilia A in a preterm girl with Turner syndrome: case report – a diagnostic and therapeutic challenge for a paediatrician (Part 2)
| Autor: | Wysokińska Barbara, Berendt Agnieszka, Wójtowicz-Marzec Monika, Kwaśniewska Anna |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Gastrointestinal bleeding congenital hereditary and neonatal diseases and abnormalities Haemophilia Turner syndrome Haemophilia A Case Report 030204 cardiovascular system & hematology Hemophilia A Genetic diseases inborn RJ1-570 Diagnosis Differential 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases medicine Humans Family history Skewed X-inactivation Infant newborn Factor VIII Blood coagulation disorders inherited biology business.industry Infant Newborn medicine.disease Infant premature Recombinant factor VIIa Gonadal dysgenesis vaccination Factor VIII Factor VIII/adverse effects biology.protein Female Differential diagnosis business Infant Premature 030215 immunology |
| Zdroj: | Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-10 (2021) Italian Journal of Pediatrics |
| ISSN: | 1824-7288 |
| Popis: | Background Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical manifestation of severe haemophilia in preterm infants poses a great challenge to the therapeutic team. As extreme prematurity is linked to an increased risk of central nervous system or gastrointestinal bleeding, a well-informed and balanced treatment from the first days of life is crucial to prevent long-term damage. Haemophilia is most commonly caused by inheriting defective genes, and can also be linked to skewed X inactivation and Turner syndrome. The coincidental occurrence of haemophilia A and Turner syndrome is extremely rare, with only isolated cases described to date. Hence, a multidisciplinary approach is needed. Case presentation The authors report on a preterm girl (gestational age 28 weeks) diagnosed with haemophilia and Turner syndrome. The first manifestation of haemophilia was prolonged bleeding from injection sites on the second day of life. Indeterminate aPTT and factor VIII level Conclusions Haemophilia should always be considered in the differential diagnosis of prolonged bleeding, even in patients with a negative family history. In the case of coinciding atypical phenotypic features, further diagnostics for another genetic disease are recommended. Infant care should follow current care standards, while considering certain individual features. |
| Databáze: | OpenAIRE |
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