Cerebroretinal microangiopathy with calcifications and cysts

A rare genetic disorder affecting the brain and eyes

Cerebroretinal microangiopathy with calcifications and cysts
Exudative retinopathy and vitreous hemorrhage in cerebroretinal microangiopathy with calcifications and cysts
Synonyms	CRMCC, Coats plus syndrome (in older literature)
Pronounce
Field	Neurology, Ophthalmology, Medical genetics
Symptoms	Intracranial calcifications, retinal telangiectasia, exudative retinopathy, cysts in the brain, bone marrow failure, gastrointestinal bleeding
Complications	Vision loss, strokes, seizures, anemia, thrombocytopenia, failure to thrive
Onset	Typically in infancy or early childhood
Duration	Lifelong
Types
Causes	Mutations in the CTC1 gene
Risks	Autosomal recessive inheritance
Diagnosis	MRI and CT imaging, ophthalmologic exam, genetic testing
Differential diagnosis	Coats disease, Aicardi–Goutières syndrome, Retinopathy of prematurity
Prevention	None known
Treatment	Symptomatic management, regular monitoring, supportive care
Medication	Blood transfusions, anticonvulsants, corticosteroids (in some cases)
Prognosis	Poor to variable; progressive multisystem involvement
Frequency	Extremely rare
Deaths	Often occurs in childhood or adolescence due to complications

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder characterized by abnormalities in the small blood vessels of the brain and retina, leading to calcifications, cyst formation, and a range of neurological and ocular symptoms.

Presentation

Individuals with CRMCC typically present with a combination of neurological and ocular symptoms. Neurologically, patients may experience developmental delay, seizures, and progressive neurological decline. Ocular manifestations often include retinal vascular abnormalities, which can lead to vision impairment or loss.

Neurological Symptoms

The neurological symptoms of CRMCC are primarily due to the presence of calcifications and cysts in the brain. These calcifications are often found in the basal ganglia, thalamus, and cerebellum. Patients may exhibit:

• Developmental delay
• Seizures
• Ataxia
• Spasticity
• Cognitive decline

Ocular Symptoms

Ocular involvement in CRMCC is characterized by abnormalities in the retinal vasculature. These can include:

• Retinal hemorrhages
• Retinal detachment
• Vision loss

Pathophysiology

The pathophysiology of CRMCC involves microangiopathy, which is a disease of the small blood vessels. This leads to the deposition of calcium in the brain and retina, as well as the formation of cysts. The exact mechanism by which these changes occur is not fully understood, but it is believed to involve genetic mutations that affect vascular integrity and function.

Genetics

CRMCC is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene are required for the disease to manifest. Several genes have been implicated in CRMCC, including SNORD118, which encodes a small nucleolar RNA involved in the modification of ribosomal RNA.

Diagnosis

Diagnosis of CRMCC is based on clinical presentation, imaging studies, and genetic testing. Imaging studies such as CT scans and MRIs are used to identify calcifications and cysts in the brain. Genetic testing can confirm the diagnosis by identifying mutations in the genes associated with CRMCC.

Management

There is currently no cure for CRMCC, and treatment is primarily supportive. Management strategies may include:

• Antiepileptic drugs for seizure control
• Physical therapy to address motor symptoms
• Vision aids and interventions for ocular symptoms

Prognosis

The prognosis for individuals with CRMCC varies depending on the severity of the symptoms and the rate of disease progression. Early intervention and supportive care can improve quality of life, but the condition is generally progressive and can lead to significant disability.

Related pages

• Microangiopathy
• Calcification
• Cyst
• Genetic disorder