Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update.
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.


CONCLUSIONS
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.


METHODS
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.
Martínez-Lage
Juan F
JF
Regional Service of Neurosurgery, Virgen de la Arrixaca University Hospital, El Palmar, E-30120, Murcia, Spain. juanf.martinezlage@cablemurcia.com
Guillén-Navarro
Encarna
E
Almagro
María-José
MJ
Felipe-Murcia
Matías
M
López López-Guerrero
Antonio
A
Galarza
Marcelo
M
D000015:Abnormalities, Multiple / Q000473:pathology / Q000601:surgery*; D001139:Arnold-Chiari Malformation / Q000473:pathology / Q000601:surgery*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D004677:Encephalocele / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology / Q000601:surgery*; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D016896:Treatment Outcome; D017287:Ventriculoperitoneal Shunt