Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Briggs, Tracy A; Abdel-Salam, Ghada M H; Balicki, Maryagnes R.; Baxter, Peter; Bertini, Enrico; Bishop, Nick; Browne, B H; Chitayat, David; Chong, W.K.; Eid, Maha M.; Halliday, William; Hughes, Imelda; Klusmann‐Koy, A.; Kurian, Mary; Nischal, Ken K.; Rice, Gillian I.; Stephenson, John B.; Surtees, Robert; Talbot, J F; Tehrani, Nasrin; Tolmie, John; Toomes, Carmel; Knaap, Marjo S. van der; Crow, Yanick J.

doi:10.1002/ajmg.a.32080

Cited by 94 publications

(104 citation statements)

References 27 publications

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“…An absence in our patients of specific clinical and biochemical features allows for the exclusion of well characterized disorders in which ICC occurs in combination with PMG [Chitayat et al, 1992;Samson et al, 1994;Sakai et al, 1997] or separately as a major diagnostic sign [Aicardi and Goutières, 1984;Coskun et al, 1990;Aalfs and Hennekam 1995;al-Mane et al, 1998;Rapin et al, 2006;Thomas-Sohl et al, 2004;Renella et al, 2006;Saillour et al, 2007;Briggs et al, 2008].…”

Section: Discussionmentioning

confidence: 94%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

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The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients—two male–female sibling pairs, one pair born to consanguineous parents, and an unrelated female—with a distinct pattern of band‐like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post‐natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable “pseudo‐TORCH” phenotype inherited as an autosomal recessive trait. © 2008 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 94%

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Briggs

Wolf

D’Arrigo

et al. 2008

American J of Med Genetics Pt A

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“…Coats plus is a rare disorder of which the most characteristic features are retinal telangiectasia and exudates (Coats disease), a distinctive pattern of intracranial calcification with an associated leukodystrophy and brain cysts, osteopenia with a tendency to frac tures and poor bone healing, and a high risk of life limiting gastro intestinal bleeding and portal hypertension caused by the development of vasculature ectasias in the stomach, small intestine and liver [4][5][6][7][8][9] ( Fig. 1).…”

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confidence: 99%

“…Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a term coined to encompass the Coats plus and Labrune syndrome phenotypes, on the grounds that the neuro radiological characteristics of these two disorders are essentially identical 7,8 . Thus, we sequenced CTC1 in a collection of probands from 21 families showing stereotypical intracranial calcification and white matter changes in the absence of extra neurological fea tures, but we were unable to identify any likely pathogenic variants (Supplementary Table 3).…”

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confidence: 99%

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Anderson¹,

Kasher²,

Mayer³

et al. 2012

Nat Genet

242

237

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Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity

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“…The histopathological findings of our patient were consistent with LCC. According to them, the likely primary pathologic feature is a rearrangement involving the microvessels and the formation of Rosenthal fibers 1,4 .…”

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confidence: 99%

Metamorphopsia associated with topiramate for migraine prevention

Cerqueira¹,

Nardi²

2012

Arq. Neuro-Psiquiatr.

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pyramidal syndrome characterized by incomplete hemiparesis on the right hemibody. Myotatic exalted reflexes in the right hemibody and plantar-cutaneous reflex were indifferent. DiSCuSSionReviewing the relevant literature worldwide, Labrune syndrome was considered as a possible diagnosis for the present case 2 . Despite the presence of cysts, calcification, and edema of the white substance found in our patient, suggesting neurocysticercosis, equinecocosis 3 or neoplasia, there was no serologic or histopathologic confirmation.This syndrome is characterized by calcifications, leukodystrophy, and formation of parenchymal cysts 1 . Its onset can occur during childhood or adolescence, in an average of 12 years (7 months -59 years), but there was not one in adults in Brazil, with neurological signs such as cognitive decline, seizures and pyramidal, extrapyramidal or cerebellar signs 1,2 . Our patient, unlike the other cases reported in literature, presented its first neurological manifestation at the age of 24. CT and MRI seen in our case were similar to the cases reported in literature, showing increased signal intensity of the white matter on MRI (T2 and FLAIR), basal ganglia calcification, and development of cysts [1][2][3] .Labrune reported the results of histopathology with rearrangement involving the microvessels, whereas perivascular foci of calcifications, hyaline deposits, and formation of Rosenthal fibers seem to be compatible with this change 1 . The histopathological findings of our patient were consistent with LCC. According to them, the likely primary pathologic feature is a rearrangement involving the microvessels and the formation of Rosenthal fibers 1,4 .In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles. It can be speculated that the later age of onset, normal intelligence and slow progression, like in our patient, may indicate the shape of this rare disease in adults. A 33-year-old woman (registration 70-247/ IPUB-UFRJ) has had recurring headaches since the age of 18. She described more right-sided than left-sided throbbing, which could be severe and associated with nausea, light and noise sensitivity, and vomiting. She has had a visual aura, seeing "zig-zags", lasting for 20 to 30 minutes before the headaches. The only preventive measure she had taken in the past was divalproex sodium, with good efficacy. Because of the weight gain as a side effect, she refused to take it again. Her body mass index (BMI) was 35.3. She was started on preventive therapy with topiramate at 25 mg daily for two weeks that was to be increased weekly

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Cited by 94 publications

References 27 publications

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Band‐like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo‐TORCH” phenotype

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Metamorphopsia associated with topiramate for migraine prevention

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