Allo-SCT in a patient with CRMCC with aplastic anemia using a reduced intensity conditioning regimen

Asai, Daisuke; Osone, Shinya; Imamura, Toshihiko; Sakaguchi, Hirotoshi; Nishio, Naomichi; Kuroda, Hiroshi; Kojima, Seiji; Hosoi, Hajime

doi:10.1038/bmt.2011.221

Cited by 9 publications

(9 citation statements)

References 11 publications

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“…In contrast with the 8 previously reported CRMCC patients with neuroimaging materials available in their articles, [2–7,9,11] our case provided a more comprehensive view of its neuroimaging features. In our case, multiple intracranial calcifications were best depicted on CT images.…”

Section: Discussioncontrasting

confidence: 72%

“…As reported in previous studies, in addition to the characteristic visual and neurological manifestations, patients with CRMCC may also exhibit other disorders, including cirrhosis, portal hypertension, gastrointestinal bleeding, anemia and thrombopenia with varying degrees of bone-marrow suppression, and skeletal changes. [4,5,8,9,11,17] …”

Section: Discussionmentioning

confidence: 99%

“…[1–3] So far, only 15 cases have been reported in the English literature. [3–11] It is a multisystem disease and clinical phenotypes are variable, among which the neurological disorder manifested on neuroimaging is the most remarkable feature of CRMCC: a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. [4–6,8,9] In this paper, we report a 23-year-old female patient with CRMCC, who has a long history of multisystem involvement for 11 years, with focus on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability.…”

Section: Introductionmentioning

confidence: 99%

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Cerebroretinal microangiopathy with calcifications and cysts

Zhu²,

Zhang³

2017

Medicine

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Rational:Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in multisystem organs. Its characteristic neurological disorders manifested on neuroimaging are a triad of leukoencephalopathy, intracranial calcifications, and parenchymal cysts. In this paper, we report a CRMCC patient with multisystem involvement, focusing on the neuroimaging features, to get a better understanding of the rare disease and improve our diagnostic ability.Patient Concerns:The 23-year-old female patient firstly presented with an adolescence onset of ophthalmological manifestations. Four years later, hematological and neurological disorders occurred, the latter of which demonstrated a relatively slow progression in the following 7 years preceding her presentation to our hospital.Interventions:During hospitalization, disorders involving digestive, cardiovascular and respiratory systems were also detected. In addition, a more comprehensive depiction of neurological disorders on neuroimaging was also obtained.Diagnoses:On the basis of multiple system disorders and the detection of mutations in conserved telomere maintenance component 1(CTC1) gene, a diagnosis of CRMCC was made.Outcomes:After supportive therapy during her 4-week hospitalization, the patient's general condition improved and was released from the hospital.Lessons:CRMCC could be primarily diagnosed with the aid of its multiple system disorders and remarkable neuroimaging features. Cerebral micro hemorrhages determined by the combination of CT and T2∗-weighted magnetic resonance images in our case could provide some additional information for diagnosis. Furthermore, several other associated disorders were depicted for the first time in our case, expanding the clinical spectrum of CRMCC.

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Section: Discussioncontrasting

confidence: 72%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Cerebroretinal microangiopathy with calcifications and cysts

Zhu²,

Zhang³

2017

Medicine

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“…Hence, SCT should be offered to patients, if required clinically, potentially resulting in improved survival in the future. Various conditioning regimens, stem cell sources, and donors have been published [3,18,20,34,36,40,42]. The authors point out a relevant treatment-related toxicity due to the underlying telomere disorder (particularly affecting the lung), and the approach should take into account experiences in DKC patients.…”

Section: Bone Marrow Failurementioning

confidence: 99%

Revesz syndrome revisited

Karremann

Neumaier-Probst

Schlichtenbrede

et al. 2020

Orphanet J Rare Dis

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Background Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. Methods To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical and epidemiological features of previously published RS cases. In addition, we herein describe the first recorded patient in central Europe. Results The literature review included 18 children. Clinical features are summarized, indicating a low prevalence of the classical DKC triad. All patients experienced early bone marrow failure, in most cases within the second year of life (median age 1.5 years; 95% CI 1.4–1.6). Retinopathy occurred typically between 6 and 18 months of age (median age 1.1 years; 95% CI 0.7–1.5). The incidence of seizures was low and was present in an estimated 20% of patients. The onset of seizures was exclusively during early childhood. The Kaplan–Meier estimate of survival was dismal (median survival 6.5 years; 95% CI 3.6–9.4), and none of the patients survived beyond the age of 12 years. Stem cell transplantation (SCT) was performed in eight children, and after a median of 22 months from SCT four of these patients were alive at the last follow up visit. Conclusion RS is a severe variant of DKC with early bone marrow failure and retinopathy in all patients. Survival is dismal, but stem cell transplantation may be performed successfully and might improve prognosis in the future.

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“…Asai et al. reported their experience of HSCT from a related donor—the only available report of successful HSCT for Revesz syndrome . They used fludarabine, cyclophosphamide, and ATG as the conditioning regimen, which resulted in successful engraftment; however, Tamura et al.…”

mentioning

confidence: 99%