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Encephalocraniocutaneous lipomatosıs (Haberland syndrome) in a newborn baby: a case report with review of literature

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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.

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References

  1. Haberland C, Perou M (1970) Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol 22:144–155

    Article  CAS  Google Scholar 

  2. Fishman MA, Chang CS, Miller JE (1978) Encephalocraniocutaneous lipomatosis. Pediatrics 61:580–582

    CAS  PubMed  Google Scholar 

  3. 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

  4. Legius EWR, Eyssen M, Marynen P et al (1995) Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene. J Med Genet 32:316–319

    Article  CAS  Google Scholar 

  5. Moog U (2009) Encephalocraniocutaneous lipomatosis. J Med Genet 46:721–729

    Article  CAS  Google Scholar 

  6. 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

    Article  Google Scholar 

  7. Nowaczyk MJ, Mernagh JR, Bourgeois JM et al (2000) Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis. Am J Med Genet 91:261–266

    Article  CAS  Google Scholar 

  8. Hunter AG (2006) Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A 140:709–726

    Article  Google Scholar 

  9. 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

    Article  CAS  Google Scholar 

  10. Zamorano MF, García LM, de Rocha LC et al (2021) Haberland syndrome with bilateral ocular involvement. Arch Soc Esp Oftalmol 96:45–47

    Article  Google Scholar 

  11. 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

    Article  Google Scholar 

  12. Sharifi M, Namdari M (2016) Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome. J Curr Ophthalmol 28:155–158

    Article  Google Scholar 

  13. Valladares MJ, Blanco MJ, Lopez-Lopez F, Gonzalez F (2007) Bilateral ocular involvement in encephalocraniocutaneous lipomatosis. Eur J Paediatr Neurol 11:108–110

    Article  Google Scholar 

  14. 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

    Article  Google Scholar 

  15. 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

    Article  Google Scholar 

  16. MacLaren MJ, Kluijt I, Koole FD (1995) Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis. Doc Ophthalmol 90:87–98

    Article  CAS  Google Scholar 

  17. Kocak O, Yarar C, Carman KB (2016) Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases. Childs Nerv Syst 32:559–562

    Article  CAS  Google Scholar 

  18. 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

    Article  Google Scholar 

  19. Vezina G, Barkovich AJ (2018) Neurocutaneous disorders. In: Barkovich AJ, Raybaud C (eds) Pediatric Neuroimaging, 6th edn. Lippincott Williams & Wilkins, pp 689–690

  20. Ayer RE, Zouros A (2011) Encephalocraniocutaneous lipomatosis: a review of its clinical pathology and neurosurgical indications. J Neurosurg Pediatr 8:316–320

    Article  Google Scholar 

  21. 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

    Google Scholar 

  22. Alam MS, Tongbram A, Noronha V, Mukherjee B (2018) Haberland syndrome associated with calvarial exostosis. Ophthalmic Plast Reconstr Surg 34:e141

    Article  Google Scholar 

  23. 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

  24. 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

    Article  Google Scholar 

  25. 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

    Article  Google Scholar 

  26. 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

    Article  Google Scholar 

  27. 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

    Article  Google Scholar 

  28. 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

    Article  CAS  Google Scholar 

  29. 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

    Article  CAS  Google Scholar 

  30. 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

    Article  Google Scholar 

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Correspondence to Zehra Filiz Karaman.

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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

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  • DOI: https://doi.org/10.1007/s00381-021-05099-7

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