Walker-Warburg syndrome. Report of two cases.
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index case's older sister, based upon her clinical picture and head CT report.
Vasconcelos
M M
MM
Hospital Universitário Antônio Pedro, Universidade Federal Fluminense (HUAP-UFF). mmvascon@centroin.com.br
Guedes
C R
CR
Domingues
R C
RC
Vianna
R N
RN
Sotero
M
M
Vieira
M M
MM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging; D009136:Muscular Dystrophies / Q000145:classification / Q000151:congenital* / Q000175:diagnosis; D011296:Prenatal Diagnosis; D013577:Syndrome; D014057:Tomography, X-Ray Computed