Received: 13 June 2002
Revised: 31 October 2002
Accepted: 1 November 2002
Published online: 1 March 2003
© ISS 2003
Abstract We report an unusual case
of Ollier’s disease presenting at an
atypically early age and with exten-
sive, bilaterally symmetric features.
Keywords Ollier’s disease ·
Enchondromatosis · Multiple
enchondromas
Skeletal Radiol (2003) 32:227–230
DOI 10.1007/s00256-002-0609-6
CASE REPORT
Justin Q. Ly
Douglas P. Beall
A rare case of infantile Ollier’s disease
demonstrating bilaterally symmetric extremity
involvement
Introduction
Ollier’s disease or enchondromatosis is a rare disease
characterized by multiple enchondromas, usually affect-
ing the diaphysis and metaphysis of tubular or long
bones. A mutant PTH/PTHrP type 1 receptor has been
discovered in human enchondromatosis and can cause
enchondroma-like lesions in transgenic mice [1], al-
though Ollier’s disease has been generally believed to be
a non-hereditary, congenital condition. The distribution
of osseous involvement has been described as predomi-
nantly unilateral [2, 3, 4]. Although there are descrip-
tions of enchondromatosis occurring in infancy, it would
appear on the basis of our search of the English literature
that detection usually occurs in childhood [5]. There
have also been reports in early adolescence [5] and
adulthood [3], following a period of progression of the
disease, which results in striking clinical manifestations
such as limb length discrepancy, spontaneous fractures,
and limb deformities. We describe the unusual case of a
9-month-old male infant who was incidentally discov-
ered to have severe, widespread, and bilaterally symmet-
ric enchondromatous involvement of both the upper and
lower extremities.
Case report
A 9-month-old male infant, born at term without any prenatal or
peri-partum complications, underwent chest radiography to rule
out pneumonia. Although there was no evidence for pulmonary
infection, the chest radiograph revealed fraying and symmetric
irregularity to the proximal humeral metaphysis, bilaterally. Addi-
tionally, there was irregular prominence of the ends of the most
inferior ribs, bilaterally. These findings suggested a possible diag-
nosis of rickets, prompting further imaging evaluation.
Subsequently, an osseous survey revealed bilaterally symmet-
ric osseous changes, which included multiple tubular lucencies
within the proximal humeri, distal radial metaphyses, distal ulnae,
and proximal and distal femoral metaphyses. Moreover, tubular or
columnar lucencies were noted to involve the metaphyses of the
J. Q. Ly (
✉
)
Department of Radiology,
Wilford Hall Medical Center,
2200 Bergquist Drive, Suite 1,
Lackland AFB, TX 78236-5300, USA
e-mail: jly15544@hotmail.com
Tel.: +1-210-2925290
Fax: +1-210-4817565
D. P. Beall
Department of Radiology and Nuclear
Medicine,
Uniformed Services University of the
Health Sciences,
Bethesda, Maryland, USA