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  • Title: Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.
    Author: Martínez-Lage JF, Guillén-Navarro E, Almagro MJ, Felipe-Murcia M, López López-Guerrero A, Galarza M.
    Journal: Childs Nerv Syst; 2010 Jan; 26(1):13-8. PubMed ID: 19763591.
    Abstract:
    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.
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