Multiple intracranial aneurysms in a patient with Seckel syndrome

D’Angelo, Vincenzo; Ceddia, Antonello; Zelante, Leopoldo; Florio, F

doi:10.1007/s003810050181

Cited by 41 publications

(23 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Out of the 62 MOPD cases reported in the literature, 17 of the patients have presented with cerebrovascular anomalies (23.8% prevalence) (table 1) [7,8,9,10,11,12,13,14,15,16]. Findings included multiple aneurysms, telangiectases, moyamoya and polyarteritis nodosa [13].…”

Section: Discussionmentioning

confidence: 99%

“…Finally, syndrome-associated moyamoya disease appears to have a greater surgical risk than idiopathic moyamoya disease for several reasons. First, syndrome-associated patients present with multiple systemic comorbidities, and they appear to have a dysregulated response to injury or stress, which can complicate an already extensive surgical procedure [8]. Second, patients with primordial dwarfism present with functional and anatomical cerebral restrictions further complicating direct revascularization.…”

Section: Discussionmentioning

confidence: 99%

“…Second, patients with primordial dwarfism present with functional and anatomical cerebral restrictions further complicating direct revascularization. Autopsies of these patients demonstrate aged, tortuous, elongated and often atherosclerotic cerebral vessels, which almost precludes using a direct bypass [8,26]. …”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, their postoperative course may be complicated by loss of cerebral blood flow autoregulation and severe brain swelling on the side on which the craniotomy is performed [8]. …”

Section: Discussionmentioning

confidence: 99%

“…Majewski osteodysplastic primordial dwarfism type II (MOPD II) and Seckel syndrome are autosomally recessive congenital primordial dwarfisms associated with severe intrauterine and postnatal growth retardation and craniofacial dysmorphism [7]. Based on several recent case reports, children with MOPD II and Seckel syndrome appear to be at risk of cerebral vascular anomalies (CVA) including moyamoya disease [8,9,10,11]. …”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Moyamoya Disease in Children with Congenital Dwarfing Conditions

et al. 2010

View full text Add to dashboard Cite

Congenital dwarfisms can be associated with a variety of vascular anomalies. Here, we describe 2 patients with congenital dwarfisms who presented with moyamoya syndrome and underwent indirect intracranial revascularization. The pathogenesis of moyamoya syndrome in this population is not well understood, but it is a major cause of stroke and early death in these patients, making their timely diagnosis and management critical.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Furthermore, their postoperative course may be complicated by loss of cerebral blood flow autoregulation and severe brain swelling on the side on which the craniotomy is performed [8]. …”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Moyamoya Disease in Children with Congenital Dwarfing Conditions

et al. 2010

View full text Add to dashboard Cite

show abstract

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Abou-Zahr

Bejjani

Kruyt³

et al. 1999

Am. J. Med. Genet.

View full text Add to dashboard Cite

Seckel syndrome is a rare autosomal recessive disorder. The classical presentation includes pre- and postnatal growth deficiency, mental retardation, and characteristic facial appearance. There have been several reports of associated hematological abnormalities and chromosomal breakage, findings suggestive of Fanconi anemia (FA). We tested for these findings in two Arabic patients with this syndrome. We compared the growth profile of lymphoblastoid cells from our patients and their parents with the FA group A cell line HSC72 in the presence and absence of mitomycin C (MMC). By Western analysis, we also determined the expression of FAA and FAC, two FA disease gene products that together account for approximately 80% of FA. Unlike HSC72 cells, cells from the patients were resistant to MMC, and both FAA and FAC proteins were expressed at similar levels in all cell lines. There is an increasing recognition of clinical variability and perhaps genetic heterogeneity in Seckel syndrome. Our results demonstrate that cross-link sensitivity comparable to FA is not a uniform finding in patients with Seckel syndrome.

show abstract

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

Hall

Flora

Scott

et al. 2004

American J of Med Genetics Pt A

137

236

View full text Add to dashboard Cite

A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family.

show abstract

Multiple intracranial aneurysms in a patient with Seckel syndrome

Cited by 41 publications

References 7 publications

Moyamoya Disease in Children with Congenital Dwarfing Conditions

Moyamoya Disease in Children with Congenital Dwarfing Conditions

Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two Patients with Seckel syndrome

Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings

Contact Info

Product

Resources

About