Coats Disease
Conditions
Keywords
Coats, leukencephalopathy with calcifications and cysts
Brief summary
Coats plus syndrome is a very rare and serious disease, caused by premature telomere shortening. It is a pediatric, multi-systemic disease, the main features of which are retinal vasculopathy and neurological disorders, associated with brain calcification and leukodystrophy. Its precise genetic etiology was discovered in 2012: autosomal recessive mutation of the CTC1 gene. Publications about this syndrome are very few, and consist only of case reports, or small series of cases. This is explained by the rarity of occurrence of this syndrome. Since 1988, 57 cases of Coats plus syndrome have been published, with case series of up to 13 patients. Only 28 cases were detailed concerning the precise clinical presentation in the literature. The general characteristics of this syndrome are known and, in addition to the ophthalmological and neurological damage, the various publications have been able to report a digestive attack (hemorrhages), hematological damage (central cytopenias), or increased bone fragility. No treatment is currently available to cure patients. The natural history of this disease is poorly known. However, the most accurate knowledge possible of this disease, and its natural history, is essential. It would allow an easier identification of this rare syndrome, the establishment of a management (monitoring and therapeutic) adapted, and a more accurate genetic counseling in case of need of a prenatal diagnosis. The description of a new series of unpublished cases, as well as a comprehensive review of the literature on Coats plus syndrome, will provide a more comprehensive and informed view of this disease. Moreover, LCC syndrome (leukoencephalopathy with calcifications and cysts) is an autosomal recessive disorder linked to a mutation in the SNORD118 gene, which has the particularity of presenting the same neurological (neuro-radiological and clinical) characteristics, but without associating the others. ophthalmological and systemic disorders. It constitutes the differential radiological diagnosis of Coats plus syndrome. In this, the collection of medical data of French pediatric cases presenting this syndrome will allow a more detailed analysis of the differences and similarities between these two syndromes.
Interventions
OTHERdata collection
No intervention
Sponsors
University Hospital, Limoges
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Inclusion criteria
* Patient with Coats plus genetic and / or clinical Syndrome, pediatric onset * Patients with genetic and / or clinical LCC syndrome, pediatric onset
Exclusion criteria
* Refusal of the patient or his family (oral opposition)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Precise exploration of clinical and paraclinical description of paediatric Coats plus syndrome and LCC syndrome about the French pediatric patients with paediatric Coats plus syndrome, or their differential diagnosis of LCC syndrome | through study completion, an average of 1 year | percentage of patients with neurological complication : seizures Exploratory description for each patient |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Precise exploration of clinical and paraclinical description of paediatric Coats + and LCC syndrome, already described in the literature about clinical cases with paediatric Coats+ syndrome, or their differential diagnosis of LCC syndrome | through study completion, an average of 1 year | percentage of patients with neurological complication : seizures Exploratory description for each patient |
| Estimation of the natural history of the disease for morbidity and mortality from the data of the new case series and case data from the literature : | through study completion, an average of 1 year | Average age at first symptoms Distribution of type of first symptoms Average age at diagnostic Average age at death if applicable Average age at beginning of each organ complications (ophthalmologic, neurologic, digestive, bony, or any other) Average delay of neurological deterioration Average age |
| Define a neuro-radiological pattern associated with Coats plus syndrome and LCC syndrome from the imaging data in the new French series | through study completion, an average of 1 year | Blinded interpretation of MRI and CT scan Particular attention will be done about calcifications, white matter abnormalities and cysts : presence, brain localization Exploratory description of each brain abnormality found % of patients presenting each abnormality found and its precise description (brain localization in particular) |
Countries
France
Outcome results
None listed