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previously visited 1 YEAR OLD GIRL WITH HYPOTONIA Random Case
Authored By: Faculty and residents Children's Hospital, Radiologist, Children's Health System, Birmingham, Alabama., USA.
Patient: 1 year old female
History: 1 year old girl with congenital hypotonia.
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Findings: Massive hydrocephalus and macrocephaly.

"Z" shaped brainstem

Cobblestone lissencephaly

Dysplastic cerebellum

Intraocular hemorrhage

Diagnosis: Walker-Warburg Syndrome
Discussion: Walker-Warburg syndrome is a form of congenital muscular dystophy.  Patients have hypotonia at birth.  Typical imaging findings include the following.  Cobblestone lissencephaly with a characteristic disorganized grey-white matter junction.  The cortex is thickened with only a few shallow sulci.  Hydrocephalus, collosal dysgenesis, and profound hypomyelination are also present.  The pons is hypoplastic causing a characteristic "Z" shaped brainstem which some have described as "a cobra about to strike."  The cerebellum is hypoplastic often with an absent vermis.  Occipital encehpalocele may occaisionally be present.  Microphthalmia or glaucoma may also be present which may be unilateral or bilateral.  There is also associated vitreous or subretinal hemorrhage which will manifest as hypoerdensity on CT or hypoerintensity on T1. 
References: Pediatric Neuroimaging,  Barcovich  4th edition.
Comments: post a comment
v good case and images--madhu prashanth, 2008-08-12 05:56:56
Additional Details:

Case Number: 17503664Last Updated: 07-17-2008
Rating:

3 ratings
Anatomy: Cranium and Contents   Pathology: Congenital
Modality: MRAccess Level: Readable by all users
Contained in: CNELLAIAPPAN
Case has been viewed 1080 times.

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