Dyskeratosis Congenita Complicated by Hepatic Fibrosis With Hepatic Vein Thrombosis

Yoshida, Hideki; Imamura, Toshihiko; Sakamoto, Kenichi; Asai, Daisuke; Nakatani, Takuya; Morimoto, Akira; Hosoi, Hajime

doi:10.1097/mph.0000000000000001

Cited by 4 publications

(2 citation statements)

References 15 publications

(17 reference statements)

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“…Other DC manifestations are pulmonary and hepatic fibrosis, with portal hypertension, cerebellar hypoplasia and atresia of the lacrimal ducts 26 27. In the present case, other features can be explained by the disease, such as intrauterine growth restriction in pregnancy, thin hair and dental caries 12 18–21 23–25…”

Section: Discussionmentioning

confidence: 71%

Pneumococcal vaccine failure: Can it be a primary immunodeficiency?

et al. 2014

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Vaccine failure is a rare condition and the need to investigate a primary immunodeficiency is controversial. We present the case of a 4-year-old boy, with complete antipneumococcal vaccination, who had necrotising pneumonia with pleural effusion and severe pancytopaenia with need for transfusion. A vaccine-serotypeStreptococcus pneumoniaewas isolated in the blood culture. On follow-up, detailed medical history, laboratory and genetic investigation led to the diagnosis of X linked dyskeratosis congenita. Dyskeratosis congenita is an inherited disorder that causes shortening or dysfunction of telomeres, affecting mainly rapidly dividing cells (particularly in the skin and haematopoietic system). It leads to bone marrow failure, combined immunodeficiency and predisposition to cancer. The confirmation of this diagnosis allows genetic counselling and medical monitoring of these patients, in order to detect early complications such as bone marrow aplasia or malignancies.

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Section: Discussionmentioning

confidence: 71%

Pneumococcal vaccine failure: Can it be a primary immunodeficiency?

et al. 2014

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“…The typical clinical characteristics of DKC include the triad of nail (toenail) dystrophy, skin pigmentation, and leukoplakia. Other clinical symptoms may include mental retardation, aplastic anemia (Vulliamy et al., 2005; Yamaguchi et al., 2005), malignant tumors, lung infection, idiopathic pulmonary fibrosis (Diaz de Leon et al., 2010), hepatic fibrosis (Yoshida et al., 2014), immunodeficiency, and scoliosis. The lowest standard of the diagnostic criteria for DKC is the presence of any two of the four major characteristics; the triad of nail (toenail) dystrophy, skin pigmentation, leukoplakia, and bone marrow failure and two or more other physical symptoms (Vulliamy et al., 2006).…”

Section: Introductionmentioning

confidence: 99%

Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome

Zhang

Cao

et al. 2021

Brain and Behavior

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Objective This study aimed to summarize the magnetic resonance imaging (MRI) and computed tomography (CT) features of the central nervous system (CNS) in children with Hoyeraal‐Hreidarsson syndrome. Methods The imaging and clinical data of four children diagnosed with Hoyeraal‐Hreidarsson syndrome by clinical and laboratory tests in the Guangzhou Women and Children's Medical Center were gathered and analyzed retrospectively. The clinical manifestations and CNS imaging features of Hoyeraal‐Hreidarsson syndrome were summarized based on our results and a literature review. Results Our results showed that delayed development, skin pigmentation, nail/toenail dystrophy, thrombocytopenia, and anemia are the most observed clinical presentations of Hoyeraal‐Hreidarsson syndrome. Important findings on CNS imaging showed that all patients had cerebellar hypoplasia, delayed myelination, hydrocephalus, brain atrophy, and calcification. The gene mutations in all cases were consistent with those of dyskeratosis congenita, including TINF2 mutations in three cases and DKC1 mutations in one case. Conclusion Hoyeraal‐Hreidarsson syndrome is a severe variant of dyskeratosis congenita. Both DKC1 and TINF2 mutations can lead to the phenotypes of Hoyeraal‐Hreidarsson syndrome. In our study, CNS imaging revealed that cerebellar hypoplasia has an important diagnostic value for Hoyeraal‐Hreidarsson syndrome while delayed myelination, calcification of the parenchyma, brain atrophy, and hydrocephalus are also important findings on CNS imaging. Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal‐Hreidarsson syndrome.

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Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases

Tamura

Imamura²,

Urata³

et al. 2017

Journal of Pediatric Hematology/Oncology

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Although bone marrow failure in patients with dyskeratosis congenita (DKC) can be successfully treated with allogeneic hematopoietic cell transplantation (allo-HCT) using a reduced intensity conditioning (RIC) regimen, the outcome of nonhematological disorders in patients with DKC treated with allo-HCT using RIC has not been fully elucidated. Here, we describe the clinical course of nonhematological disorders after allo-HCT with RIC in 3 consecutive patients with DKC. Allo-HCT with RIC was feasible in all cases; however, patient 1 developed lethal pulmonary disease and patient 2 experienced progression of hepatic fibrosis. Careful follow-up of patient-specific complications is required after allo-HCT in patients with DKC.

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Dyskeratosis Congenita Complicated by Hepatic Fibrosis With Hepatic Vein Thrombosis

Cited by 4 publications

References 15 publications

Pneumococcal vaccine failure: Can it be a primary immunodeficiency?

Pneumococcal vaccine failure: Can it be a primary immunodeficiency?

Brain imaging features of children with Hoyeraal‐Hreidarsson syndrome

Allogeneic Hematopoietic Cell Transplantation for Dyskeratosis Congenita: A Report of 3 Cases

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