Cerebroretinal Microangiopathy With Calcifications and Cysts Associated With <i>CTC1</i> and <i>NDP</i> Mutations

Romaniello, Romina; Arrigoni, Filippo; Citterio, Andrea; Tonelli, Alessandra; Sforzini, Cinzia; Rizzari, Carmelo; Pessina, Marco; Triulzi, Fabio; Bassi, Maria Teresa; Borgatti, Renato

doi:10.1177/0883073812467849

Cited by 12 publications

(12 citation statements)

References 16 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: 70%

“…This finding indirectly supported the hypothesis that obliterative angiopathy involving small vessels might be the pathogenesis in both retinal and neurological disorders in CRMCC. [2,4–6] Therefore, gradient-echo imaging (T2∗-weighted imaging or susceptibility weighted imaging), which was used for detecting cerebral micro hemorrhages, may be an essential tool for diagnosis. In contrast with the only 1 reported CRMCC patients with H1-MRS data available, which revealed minimal increase in the choline peak, mild decrease in the N-acetylaspartate peak, and a lactate peak, [10] our patient showed a normal spectrum.…”

Section: Discussionmentioning

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: 70%

Section: Discussionmentioning

confidence: 99%

Cerebroretinal microangiopathy with calcifications and cysts

Zhu²,

Zhang³

2017

Medicine

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“…Mutations in Norrin/Fzd4 pathway components cause a spectrum of human pathologies, including vascular disorders with retinal and cerebellar phenotypes (Gilmour, 2015; Liu et al, 2010; Romaniello et al, 2013). However, the role of this signalling axis in the vasculature has not been explored in human tumorigenesis.…”

Section: Discussionmentioning

confidence: 99%

Norrin/Frizzled4 signalling in the preneoplastic niche blocks medulloblastoma initiation

Bassett

Tokarew

Allemano

et al. 2016

eLife

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The tumor microenvironment is a critical modulator of carcinogenesis; however, in many tumor types, the influence of the stroma during preneoplastic stages is unknown. Here we explored the relationship between pre-tumor cells and their surrounding stroma in malignant progression of the cerebellar tumor medulloblastoma (MB). We show that activation of the vascular regulatory signalling axis mediated by Norrin (an atypical Wnt)/Frizzled4 (Fzd4) inhibits MB initiation in the Ptch+/− mouse model. Loss of Norrin/Fzd4-mediated signalling in endothelial cells, either genetically or by short-term blockade, increases the frequency of pre-tumor lesions and creates a tumor-permissive microenvironment at the earliest, preneoplastic stages of MB. This pro-tumor stroma, characterized by angiogenic remodelling, is associated with an accelerated transition from preneoplasia to malignancy. These data expose a stromal component that regulates the earliest stages of tumorigenesis in the cerebellum, and a novel role for the Norrin/Fzd4 axis as an endogenous anti-tumor signal in the preneoplastic niche.DOI: http://dx.doi.org/10.7554/eLife.16764.001

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“…El síndrome de Coats plus (OMIM #612199), es un trastorno infrecuente con patrón de herencia autosómico recesivo, debido a mutaciones sin sentido en el gen CTC1, caracterizado por microangiopatía cerebroretiniana, con calcificaciones intracraneales, osteopenia y sangrado gastrointestinal (4,18,19).…”

Section: Variantes Clínicasunclassified

Aspectos clínicos, etiológicos y terapéuticos de la disqueratosis congénita

Perona

Sastre

Callea

et al. 2020

Rev Peru Investig Salud

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La disqueratosis congénita corresponde la primera entidad genética descrita entre las telomeropatías, cuya forma clásica se caracteriza por presentar la tríada mucocutánea de pigmentación reticulada de encaje en piel, distrofia ungueal y leucoplasia oral. Puede cursar además con insuficiencia de la médula ósea, tumores hematológicos y sólidos que corresponde las complicaciones más graves. Además de inmunodeficiencias, alteraciones dentales, pulmonares y hepáticas y otros aspectos considerados menores. Presenta a su vez una variada heterogeneidad genética de locus, con al menos 14 genes implicados en el acortamiento de los telómeros, asociados por lo tanto a la disqueratosis congénita o a fenotipos similares. Esta revisión discute además de las características clínicas, las diversas causas etiológicas, evolución, opciones terapéuticas disponibles y diagnóstico diferenciales de esta entidad con el objeto de brindar una evaluación médica interdisciplinaria e individualizada que incluya un adecuado asesoramiento genético.

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Cerebroretinal Microangiopathy With Calcifications and Cysts Associated With CTC1 and NDP Mutations

Cited by 12 publications

References 16 publications

Cerebroretinal microangiopathy with calcifications and cysts

Cerebroretinal microangiopathy with calcifications and cysts

Norrin/Frizzled4 signalling in the preneoplastic niche blocks medulloblastoma initiation

Aspectos clínicos, etiológicos y terapéuticos de la disqueratosis congénita

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