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2015 ; 2
(1
): 2329048X14553297
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gab.com Text
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English Wikipedia
Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal
Cord Syndrome With Review of Literature
#MMPMID28503585
Naous A
; Shatila AR
; Naja Z
; Naja AS
; Rajab M
Child Neurol Open
2015[Jan]; 2
(1
): 2329048X14553297
PMID28503585
show ga
Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital
neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata
of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic
malformations. We describe the first case from Lebanon, an infant with classical
encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus,
unilateral right facial and frontal-temporal subcutaneous lipomas, alopecia,
ocular coloboma, aniridia and eyelid nodular tags, ventriculomegaly with
intracranial and intraspinal lipomas, and tethered spinal cord. We report this
case of rare association between encephalocraniocutaneous lipomatosis and
tethered spinal cord syndrome and stress on the importance of spinal cord
evaluation in encephalocraniocutaneous lipomatosis.