Cutis marmorata teleangiectatica congenita (CMTC)is a rare congenital vascular anomaly occurring in a patchy, segmental, unilateral manifestation combining following characteristic findings:persistent cutis marmoratateleangiectasiaphlebectasia Synonyms of CMTC: congenital generalized phlebectasia, livedo teleangiectatica, congenital livedo reticuralis, Van Lohuizen SyndromeThe anomalies were first recognised bythe dutch pediatrician Van Lohuizen (1922)Aetiology: unknown, cause may be multifactorialHypotheses for the etiology:external factorsperipheral neural dysfunctionfailure of the mesodermic vessels in the early embryonic stageautosomal dominant inheritance with incomplete penetranceHapple lethal gene hypothesis or paradominant inheritanceLocalisation: extremities, commonly the lower limb, the upper...
Methods and Materials
We examined 3 children (age 6 weeks to 36 months) with M-CMTC on a 1.5 T MR Siemens Avanto scanner and assessed the salient cerebral MR imaging features.One of the children was examined twice at the age of 6 weeks and 22 months.
Children with CMTC present a mild developmental delay and very seldom seizures.Structural brain anomalies commonly found in theses children are:macrocephalyventriculomegaly including obstructive and non-obstructive hydrocephalus tonsillar herniation. cortical dysplasiapolymicrogyria cerebral or ventricular asymmetrysignal abnormalities of the white matter enlarged intracranial veins and venous sinusesdilated Virchow-Robin spacesthick corpus callosumcavum pellucidum et vergaeoptic nerve enlargementA constellation of characteristic features was found in all three children:White matter lesions in the deep white matter especially in the terminal zone in combination with an adequate myelinisation of the subcortical areas...
Megalencephaly-CMTC is accompanied by characteristic MRI findings of the CNS including a pseudo-Chiari constellation and polymicrogyria. Repeat imaging may be necessary in infants in order to assess the salient features, as the pseudo-Chiari constellation typically develops in the first years of life.
Martinez JF, Guillen-Navarro E, Almagro M-J, Felipe-Murcia M, Lopz-Guerrero AL, Galarza M: Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata teleangiectatica congenita: a case based update Childs Nerv Syst (2010) 26:13-18Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez -Lara P et al (2007): Neuroimaging findings in macrocephaly capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A 143A:2981-3000Scholz M, Scholz-Kühn D: Cutis marmorata teleangiectatica. Pädiatrie hautnah, 9:2000Kienast AK, Hoeger PH: Cutis marmorata teleangiectatica congenita: a prospective study of...