Coexistence of Two Rare Genetic Disorders: Familial Mediterranean Fever and Neurofibromatosis Type 1 in a Child

Year 2015, Volume: 40 Number: Supplement 1, 75 - 78, 09.10.2015

Faruk İncecik , Özlem Hergüner Şeyda Besen Zeliha Haytoğlu Şakir Altunbaşak Mustafa Yılmaz

https://doi.org/10.17826/cutf.36688

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive polysystemic disease characterized by attacks of relapsing and self-limiting fever, peritonitis, pleuritis and arthritis. Café-au lait macules, neurofibromas, axillary and inguinal freckling, Lisch nodules, bone lesions such as sphenoid dysplasia, and optic glioma are the characteristic features of neurofibromatosis type 1 (NF1) disease. In this case report, a 7 year-old girl with NF1 and FMF is presented. She had intermittent fever, abdominal and joint pain attacks lasting 2-3 days every two-three months since 1 year. We detected many cafe-au lait spots and axillary freckles on her body and diagnosed FMF and NF1.

Keywords

Familial Mediterranean fever, neurofibromatosis type 1, coexistence

İki Nadir Görülen Hastalığın Birlikteliği: Bir Çocukta Ailevi Akdeniz Ateşi ve Nörofibromatozis Tip 1

Abstract

Ailevi Akdeniz Ateşi (FMF) nükseden ve kendini sınırlayan ateş, peritonit, plörit ve artrit atakları ile karakterize otozomal resesif geçişli polisistemik bir hastalıktır. Nörofibromatozis tip 1 (NF1) hastalığının karakteristik özellikleri arasında café- au lait lekeler, nörofibromlar, aksiller ve inguinal çillenme, Lisch nodülleri, sfenoid displazi gibi kemik lezyonları ve optik gliom yer alır. Bu makalede, FMF ve NF1’li 7 yaşındaki bir kız sunulmuştur. Hastanın bir yıldır, 2-3 ayda bir 2-3 gün süren ateş, karın ve eklem ağrılarına sahipti. Bunun dışında vücudunda café-au lait lekesi ve aksiller çillenme saptadık ve hastaya FMF ve NF1 tanısını koyduk.

Keywords

Ailevi Akdeniz Ateşi, nörofibromatozis tip 1, bir arada olma

References

• Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet. 1998;351:659-64.
• Upadhyaya M, Shaw DJ, Harper PS. Molecular basis of neurofibromatosis type I (NF1): mutation analysis and polymorphisms in the NF1 gene. Hum Mutat. 1994;4:83-101.
• Ozkaya O, Bek K, Alaca N, Ceyhan M, Açikgöz Y, Taşdemir HA. Cerebral vasculitis in a child with Henoch-Schönlein purpura and familial Mediterranean fever. Clin Rheumatol. 2007;26:1729- 32.
• Bakkaloğlu SA, Muzaç S, Akpek S, Söylemezoğlu O,
• Buyan N, Hasanoğlu E. Polyarteritis nodosa in a case of familial Mediterranean fever. Pediatr Nephrol. 2004;19:536-8. Nishino A, et al. Coexistence of familial Mediterranean fever and rheumatoid arthritis. Mod Rheumatol. 2014;24:212-6.
• Sahraian MA, Motamedi M, Paknejad SM, Azimi AR. Coexistence of Wilson's disease and neurofibromatosis type 1 in a 14-year-old boy. Neurol India. 2007;55:89-90.
• Yayli S, Bahadir S, Cimşit G, Bozkaya H, Imamoğlu
• HI, Kul S. Coexistence of Mayer-Rokitansky-Kuster- Hauser syndrome and neurofibromatosis type I. Am J Clin Dermatol. 2008;9:57-60.
• Ding J, Yang JY, Yao Y, Liu JC, Li YB, Yu LX. Alport syndrome with neurofibromatosis type-I: a case report. Pediatr Nephrol. 1997;11:649-50.
• Hartlapp I, Bühring U, Dichgans J, Isenmann S. A patient with Marfan's syndrome and neurofibromatosis type 1 with polyneuropathy. Eur J Neurol. 2004;11:641-4.
• The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90:797-807. M, Cakar N. Clinical, laboratory and molecular characteristics of children with familial Mediterranean fever-associated 2000;89:177-82.
• Simsek I, Pay S, Pekel A, Dinc A, Musabak U, Erdem H, et al. Serum proinflammatory cytokines directing T helper 1 polarization in patients with familial Mediterranean fever. Rheumatol Int 2007;27:807-11.
• Ozen S. Mutations/polymorphisms in a monogenetic autoinflammatory disease may be susceptibility markers for certain rheumatic diseases: lessons from the bedside for the benchside. Clin Exp Rheumatol 2009;53:29-31.