Cranial imaging in autosomal recessive osteopetrosis. Part II. Skull base and brain.

Abstract:

:The authors reviewed cranial imaging studies (radiographs, computed tomographic scans, and magnetic resonance [MR] images) in 13 infants and children with the autosomal recessive form of osteopetrosis to characterize patterns of skull base, brain, and cranial nerve involvement at presentation and with progression of disease. Marked sclerosis and deposition of osteopetrotic bone was noted along the anterior (but not posterior) occipitomastoid suture (n = 8), at the basioccipital-exoccipital synchondrosis (n = 9), and along the sphenooccipital synchondrosis (n = 8). Endobones, presumably representing unresorbed primitive ossification centers, were seen in the sphenoidal body and basioccipital bone in 11 of the 13 patients. Marked cupping at the basioccipital-exoccipital synchondrosis was observed in three. Neurologic deficits included blindness (n = 11), conductive hearing loss (n = 11), and facial nerve palsies (n = 4). Delayed myelination was seen with MR imaging in two of five retarded infants, including one with a documented coexisting neuronal storage defect. Prominent extracerebral cerebrospinal fluid spaces were present over the frontal lobes in five of the eight developmentally normal patients, representing either subclinical parenchymal disease or a phenomenon related to discordant growth rates between skull and brain.

journal_name

Radiology

journal_title

Radiology

authors

Elster AD,Theros EG,Key LL,Chen MY

doi

10.1148/radiology.183.1.1549660

subject

Has Abstract

pub_date

1992-04-01 00:00:00

pages

137-44

issue

1

eissn

0033-8419

issn

1527-1315

journal_volume

183

pub_type

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