Abstract
A 9-year-old boy with a history of lipoma excision and laminectomy at the Th10–11
levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for
a comprehensive rehabilitation programme. Physical examination revealed an ipsilateral
focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous
tissue on the left temporo-parietal region of the scalp. Iris coloboma and chorioretinitis
were diagnosed on the left eye. He also had mild mental retardation and triparesis.
Magnetic resonance imaging of the brain and the spine demonstrated hyperintense masses
which were consistent with lipoma. Although in the literature three cases of encephalocraniocutaneous
lipomatosis (ECCL) concomitant with spinal cord involvement have been reported, to
our knowledge iris coloboma and chorioretinitis in ECCL have not been reported previously.
In conclusion, we would like to stress that aside from known ophthalmological malformations,
iris coloboma and chorioretinitis may also be observed in ECCL and that all patients
who have been diagnosed as having ECCL should be examined for spinal cord involvement.
Keywords
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Article info
Publication history
Accepted:
April 6,
2001
Received in revised form:
March 28,
2001
Received:
June 10,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
