Top

Published in:

01-01-2012 | Case Report

Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood

Authors: Ryan K. L. Lee, Phoenix P. Y. Lui, Cina S. L. Tong, Winnie C. W. Chu

Published in: Pediatric Radiology | Issue 1/2012

Abstract

We describe the uncommon development of leptomeningeal lipomatosis in a girl with encephalocraniocutaneous lipomatosis (ECCL). Leptomeningeal involvement had not been present at 2 years of age, but was demonstrated on CT and MRI at 10 years of age. Our case demonstrates follow-up neuroimaging features of ECCL that may be helpful to radiologists in suggesting the correct diagnosis, as ocular and cutaneous lesions may be non-specific clinically. The developmental nature of leptomeningeal involvement in our case suggests that close clinical and radiological follow-up is important in children with suspected or established ECCL.

Almer Z, Vishnevskia-Dai V, Zadok D (2003) Encephalocraniocutaneous lipomatosis: case report and review of the literature. Cornea 22:389–390PubMedCrossRef

Lasierra R, Valencia I, Carapeto FJ et al (2003) Encephalocraniocutaneous lipomatosis: neurologic manifestations. J Child Neurol 18:725–729PubMedCrossRef

Rubegni P, Risulo M, Sbano P et al (2003) Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 28:387–390PubMedCrossRef

Gawel J, Schwartz RA, Jozwiak S (2003) Encephalocraniocutaneous lipomatosis. J Cutan Med Surg 7:61–65PubMedCrossRef

Parazzini C, Triulzi F, Russo G et al (1999) Encephalocraniocutaneous lipomatosis: complete neuroradiologic evaluation and follow-up of two cases. AJNR Am J Neuroradiol 20:173–176PubMed

Moog U, Jones MC, Viskochil DH et al (2007) Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 24:2963–2972

Gokhale NR, Mahajan PM, Belgaumkar VA et al (2007) Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol 73:40–42PubMedCrossRef

Koishi GN, Yoshida M, Alonso N et al (2008) Encephalocraniocutaneous lipomatosis (Haberland’s syndrome): a case report of a neurocutaneous syndrome and a review of the literature. Clinics (Sao Paulo) 63:406–408CrossRef

Title: Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood
Authors: Ryan K. L. Lee
Phoenix P. Y. Lui
Cina S. L. Tong
Winnie C. W. Chu
Publication date: 01-01-2012
Publisher: Springer-Verlag
Published in: Pediatric Radiology / Issue 1/2012
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-011-2149-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 1/2012

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

Fracture after bisphosphonate treatment in children with cerebral palsy: the role of stress risers

Percutaneous retrieval of intravascular venous foreign bodies in children

Ownership

HIDA, percutaneous transhepatic cholecysto-cholangiography and liver biopsy in infants with persistent jaundice: can a combination of PTCC and liver biopsy reduce unnecessary laparotomy?

Correlative BOLD MR imaging of stages of synovitis in a rabbit model of antigen-induced arthritis