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309 Fanconi anemia: a case report

Rodrigues, Alexandra M ; Ribeiro, Joana Filipe ; Francisco, Catarina ; Salicio, Leonor

Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A130-A130 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health

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  • Título:
    309 Fanconi anemia: a case report
  • Autor: Rodrigues, Alexandra M ; Ribeiro, Joana Filipe ; Francisco, Catarina ; Salicio, Leonor
  • Assuntos: Abstracts ; Acute myeloid leukemia ; Anatomy ; Anemia ; Anogenital ; Anus ; Bone marrow ; Bone marrow transplantation ; Bradycardia ; Case reports ; Central nervous system ; Congenital defects ; Congenital diseases ; Deafness ; Diagnosis ; Diepoxybutane ; Disease transmission ; Ear ; Fanconi syndrome ; Fetuses ; Head and neck ; Hypoplasia ; Intellectual disabilities ; Karyotypes ; Leukemia ; Life span ; Myeloid leukemia ; Nipples ; Patients ; Pediatrics ; Pregnancy ; Quality of life ; Stem cell transplantation
  • É parte de: Archives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A130-A130
  • Notas: Paediatric Hematology and Oncology
    10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021
  • Descrição: BackgroundFanconi anemia is a rare genetic inheritance disease. Although the transmission in most cases is autosomal recessive, in some instances, it can be X-linked. Congenital malformations are the first clinical presentation that could affect many organic systems like the skeletal, skin, cardiac, pulmonary, central nervous system, gastrointestinal and urogenital. Limb asymmetry, thenar hypoplasia, mycrocephaly and low stature and weight are very frequent. Patients may also present ear malformations with or without congenital deafness and intellectual disabilities. The most serious problem is early severe bone marrow failure which leads to pancytopenia and, some years later, to the progression of acute myeloid leukemia or myelodysplastic syndrome. Moreover, the presence of solid tumors (head and neck or anogenital) is more prevalent.Case ReportA 9 year old male child was born with polymalformations such as imperforate anus, micropenis, inverted nipples, low implanted ears, sacrococcigeal sinus, thenar and radius hypoplasia. His birth occurred under a supervised gestation of 42 weeks by caesarean because of fetal bradycardia. The Apgar index was 5/8/9 and reanimation was performed. The patient was hospitalized in intensive care and anus correction surgery was performed.The child’s parents were healthy but consanguineous (cousins). The boy is the couple’s third child. The first one died at 7 years old with acute myeloid leukemia and had a previous diagnosis of Fanconi anemia. The second one had sudden death at 3 months old. Because of this, karyotype and evaluation of chromosomal breakage induced by diepoxybutane (DEB) was tested and the last one confirmed Fanconi anemia diagnosis. Until now, he developed pancytopenia and bone marrow failure without progression to leukemia. Later, he had a younger brother without Fanconi anemia. It should be noted that the child in question has a 17 year old male cousin also diagnosed with Fanconi anemia. The cousin has low stature, intellectual disability and performed Hematopoietic stem cell transplantation at 7 years old.Currently, the child takes danazol and receives periodic transfusions. He has multidisciplinary follow-up and was proposed to Hematopoietic stem cell transplantation.ConclusionFanconi anemia is responsible for many malformations and inevitable bone marrow failure. The presence of an inheritance pattern increases the level of suspicion when other relatives have the disease.After diagnosis, these patients need close multidisciplinary follow-up to improve the expectancy and quality of life. The prevention or early detection of neoplasia is the main objective for these patients, as it leads to poor prognosis.
  • Editor: London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
  • Idioma: Inglês
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