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Cerebroretinal microangiopathy with calcifications and cysts: A case report.

Abstract

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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  • Authors+Show Affiliations

    ,

    aDepartment of Radiology bDepartment of Rheumatology cDepartment of Neurology, Peking Union Medical College Hospital (PUMCH), Peking Union Medical College and Chinese Academy of Medical Sciences (PUMC&CAMS), Beijing, People's Republic of China.

    , ,

    Source

    Medicine 96:1 2017 Jan pg e5545

    MeSH

    Adult
    Aftercare
    Ataxia
    Brain
    Brain Neoplasms
    Calcinosis
    Central Nervous System Cysts
    Diagnosis, Differential
    Disease Management
    Disease Progression
    Female
    Humans
    Leukoencephalopathies
    Muscle Spasticity
    Mutation
    Neuroimaging
    Proton Magnetic Resonance Spectroscopy
    Retinal Diseases
    Seizures
    Telomere-Binding Proteins

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    28072696