Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is an extremely uncommon, neurocutaneous disease, with a classical triad of ocular, skin lesions and central nervous system anomalies. We here report a case of ECCL in a newborn baby, characterized with naevus psiloliparus, choristoma, lipodermoids, cervical subcutaneous soft tissue mass, lowset ear, porencephalic cyst, polymicrogyria, arachnoid cyst, leptomeningeal angiomatosis and spinal lipomas. We here stress on the importance of early diagnosis to prevent misdiagnosis and employ a multidisciplinary approach in the management of these patients.
Similar content being viewed by others
References
Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22:144–155
Fishman MA, Chang CS, Miller JE (1978) Encephalocraniocutaneous lipomatosis. Pediatrics 61:580–582
Moog U, Roelens F, Mortier GR et al (2007) Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: harboring clues to pathogenesis? Am J Med Genet A 143:2973–1432980
Legius EWR, Eyssen M, Marynen P et al (1995) Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 32:316–319
Moog U (2009) Encephalocraniocutaneous lipomatosis. J Med Genet 46:721–729
Özdoğan S, Saymaz C, Yaltırık CK, Düzkalır HG, Kaya M, Demirel N, Düzkalır AH, Sarıkaya B, Aktekin B (2017) Encephalocraniocutaneous lipomatosis: Haberland syndrome. Am J Case Rep 18:1271–1275
Nowaczyk MJ, Mernagh JR, Bourgeois JM et al (2000) Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 91:261–266
Hunter AG (2006) Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A 140:709–726
Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M (2003) Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement. Clin Exp Dermatol 28:387–390
Zamorano MF, García LM, de Rocha LC et al (2021) Haberland syndrome with bilateral ocular involvement. Arch Soc Esp Oftalmol 96:45–47
Souza ML, Iglesias JV, Alejandro MB et al (2007) Lipomatosis encefalocraneocutánea (síndrome de Haberland) con afectación ocular bilateral [Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral ocular damage]. An Pediatr (Barc) 66:619–621
Sharifi M, Namdari M (2016) Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Curr Ophthalmol 28:155–158
Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F (2007) Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. Eur J Paediatr Neurol 11:108–110
Banta J, Beasley K, Kobayashi T et al (2016) Encephalocraniocutaneous lipomatosis (Haberland syndrome): a mild case with bilateral cutaneous and ocular involvement. JAAD Case Rep 2:150–152
Thakur S, Thakur V, Sood RG, Thakur CS, Khanna S (2013) Encephalocraniocutaneous lipomatosis with calvarial exostosis - case report and review of literature. Indian J Radiol Imaging 23:333–336
MacLaren MJ, Kluijt I, Koole FD (1995) Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90:87–98
Kocak O, Yarar C, Carman KB (2016) Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. Childs Nerv Syst 32:559–562
Siddiqui S, Naaz S, Ahmad M, Khan ZA, Wahab S, Rashid BA (2017) Encephalocraniocutaneous lipomatosis: a case report with review of literature. Neuroradiol J 30:578–582
Vezina G, Barkovich AJ (2018) Neurocutaneous disorders. In: Barkovich AJ, Raybaud C (eds) Pediatric Neuroimaging, 6th edn. Lippincott Williams & Wilkins, pp 689–690
Ayer RE, Zouros A (2011) Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr 8:316–320
Naous A, Shatila AR, Naja Z et al (2015) Encephalocraniocutaneous lipomatosis: a rare association with tethered spinal cord syndrome with review of literature. Child Neurol Open 13:2
Alam MS, Tongbram A, Noronha V, Mukherjee B (2018) Haberland syndrome associated with calvarial exostosis. Ophthalmic Plast Reconstr Surg 34:e141
Delfino LN, Fariello G, Quattrocchi CC et al (20119) Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia. Am J Med Genet A 155:1690–1696
Phi JH, Park SH, Chae JH et al (2010) Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report. Neurosurgery 67:1165–1169
Brassesco MS, Valera ET, Becker AP, Castro-Gamero AM, de Aboim Machado A, Santos AC, Scrideli CA, Oliveira RS, Machado HR, Tone LG (2010) Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. J Neuro-Oncol 96:437–441
Valera ET, Brassesco MS, Scrideli CA, de Castro Barros MV, Santos AC, Oliveira RS, Machado HR, Tone LG (2012) Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas? Childs Nerv Syst 28:19–22
Bieser S, Reis M, Guzman M, Gauvain K, Elbabaa S, Braddock SR, Abdel-Baki MS (2015) Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. Am J Med Genet A 167A(4):878–881
Han JY, Yum MS, Kim EH, Hong S, Ko TS (2016) A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. Korean J Pediatr 59:139–144
Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ, University of Washington Center for Mendelian Genomics, Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell L (2016) Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet 98:579–587
Koti K, Bhimireddy V, Dandamudi S, Gunnamreddy R (2013) Encephalocraniocutaneous lipomatosis (Haberland syndrome): a case report and review of literature. Indian J Dermatol 58:232–234
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
On behalf of all authors, the corresponding author states that there is no conflict of interest.
Additional information
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Karaman, Z.F., Özüdoğru, Ş.E. Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature. Childs Nerv Syst 37, 3951–3955 (2021). https://doi.org/10.1007/s00381-021-05099-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-021-05099-7