BACKGROUND: Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations. DISCUSSION: This condition is usually documented in the Genetics' literature but it has been scarcely disseminated among neurosurgeons. Sudden death of uncertain origin has been reported in children with M-CMTC. Hydrocephalus and tonsillar herniation often occur in this syndrome. The appearance of symptoms and signs of intracranial hypertension or of brain stem compression in M-CMTC patients may herald the development of irreversible neurological damage or death. ILLUSTRATIVE CASES: We report two children diagnosed with M-CMTC and hydrocephalus who were given a ventriculo-peritoneal shunt. In addition, one of them exhibited tonsillar herniation. CONCLUSIONS: Given the high incidence of hydrocephalus and/or tonsillar herniation that occurs in M-CMTC, serial neuroimaging studies and neurosurgical referral seem to be warranted in children with this syndrome.
BACKGROUND:Macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) is a newly described condition characterized by macrocephaly (megalencephaly), cutis marmorata telangiectatica congenita, macrosomia and/or asymmetric growth, central nervous system abnormalities and neurological manifestations. DISCUSSION: This condition is usually documented in the Genetics' literature but it has been scarcely disseminated among neurosurgeons. Sudden death of uncertain origin has been reported in children with M-CMTC. Hydrocephalus and tonsillar herniation often occur in this syndrome. The appearance of symptoms and signs of intracranial hypertension or of brain stem compression in M-CMTC patients may herald the development of irreversible neurological damage or death. ILLUSTRATIVE CASES: We report two children diagnosed with M-CMTC and hydrocephalus who were given a ventriculo-peritoneal shunt. In addition, one of them exhibited tonsillar herniation. CONCLUSIONS: Given the high incidence of hydrocephalus and/or tonsillar herniation that occurs in M-CMTC, serial neuroimaging studies and neurosurgical referral seem to be warranted in children with this syndrome.
Authors: R Shane Tubbs; Michael J Lyerly; Marios Loukas; Mohammadali M Shoja; W Jerry Oakes Journal: Childs Nerv Syst Date: 2007-07-18 Impact factor: 1.475
Authors: Juan F Martínez-Lage; Encarna Guillén-Navarro; Antonio L López-Guerrero; María José Almagro; Beatriz Cuartero-Pérez; Pedro de la Rosa Journal: Childs Nerv Syst Date: 2011-10-13 Impact factor: 1.475