A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features

Akcar, Nevbahar; Adapınar, Baki; Dinleyici, Cagri; Durak, Beyhan; Ozkan, I. Ragıp

doi:10.1016/j.anngen.2004.03.003

Cited by 21 publications

(12 citation statements)

References 13 publications

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“…Yano and Watanabe 10 reported 3 cases with severe growth failure, who subsequently died before the age of 3 years (two of unknown causes and one in whom atrial flutter and hypotensive shock developed during a viral illness). One case each reported by Clayton-Smith et al, 2 Giuliano et al, 9 and Akcar et al 12 It is impossible to speculate whether these complications were coincidental or an association of M-CMTC.…”

Section: Discussionmentioning

confidence: 93%

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Katugampola

Moss

Mills

2008

Journal of the American Academy of Dermatology

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Section: Discussionmentioning

confidence: 93%

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Katugampola

Moss

Mills

2008

Journal of the American Academy of Dermatology

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“…In addition, the literature identifies one case of pachygyria, one case of schizencephaly, two cases of gray matter heterotopy and one case of nodular heterotopia. [Cristaldi et al, 1995; Clayton‐Smith, 1997; Carcao et al, 1998; Thong et al, 1999; Franceschini et al, 2000; Robertson et al, 2000; Ackar et al, 2004; Giuliano et al, 2004; Garavelli et al, 2005].…”

Section: Cohort Neuroimaging Analysismentioning

confidence: 99%

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Conway

Pressman

Dobyns

et al. 2007

American J of Med Genetics Pt A

110

115

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Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly-Capillary Malformation (M-CM). This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome. We analyzed the 17 patients with available brain MRI or CT scans and compared their findings with features identified by a comprehensive review of published cases. White matter irregularities with increased signal on T2-weighted images were commonly observed findings. A distinctive feature in more than half the patients was cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. In four such cases, we confirmed that the tonsillar herniation was an acquired event. Concurrently, with the development of these findings, ventriculomegaly (frequently obstructive) and dilated dural venous sinuses were observed in conjunction with prominent Virchow-Robin spaces in many of those in whom cerebellar tonsil herniation had developed. We postulate that this constellation of unusual features suggests a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior fossa pressure and leads to acquired tonsillar herniation. We make a distinction between congenital Chiari I malformation and acquired cerebellar tonsil herniation in this syndrome. We also observed numerous examples of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria which primarily involved the perisylvian and insular regions, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM.

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“…In 25% of cases reported in the literature there were associated abnormalities to the vascular lesions such as glaucoma, macrocephaly, syndactyly, renal hypoplasia, body asymmetry and psychomotor or mental retardation, developmental delay, hypothyroidism, hypospadias [7][8][9][10]. This association is without correlation with the extent of lesions.…”

Section: Discussionmentioning

confidence: 99%

Cutis Marmorata Telangiectatica Congenital: A Case Report

Ksibi¹,

Achour²,

Nadia³

et al. 2016

J Neonatal Biol

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Introduction: Cutis marmorata telangiectatica congenita (CMTC) is a sporadic congenital skin vascular abnormality, present at birth or shortly thereafter. The prognosis is generally good. Case report: we report the case of a preterm female newborn with cutis marmorata pattern. Conclusion: CMTC is a rare disease whose determinism remains unknown. The treatment required a multidisciplinary intervention including dermatologist, pediatricians and psychologists.

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A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features

Cited by 21 publications

References 13 publications

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Macrocephaly–cutis marmorata telangiectatica congenita: A case report and review of salient features

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Cutis Marmorata Telangiectatica Congenital: A Case Report

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