Skip to main content

Advertisement

Log in

Arachnoid cyst: a further anomaly associated with Kallmann syndrome?

  • Case-Based Update
  • Published:
Child's Nervous System Aims and scope Submit manuscript

A Commentary to this article was published on 12 July 2016

Abstract

Background

Kallmann syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia. It is characterized by a significant clinical and genetic heterogeneity; actually, it may present several non-reproductive non-olfactory anomalies, and all the ways of genetic transmission can be involved in the inheritance of the disease. Although six pathogenesis-related genes have been identified so far, KS remains sporadic in 70 % of the cases, and the genetic diagnosis is not available for all of them. The purpose of this paper is to present a further disease that can enrich the wide spectrum of KS variability, that is cerebral arachnoid cyst.

Case description

This 11-year-old boy presented with the typical characteristics of KS together with those related to a sylvian arachnoid cyst. He was admitted because of worsening headache. At the admission, the physical examination revealed eunuchoid aspect, micropenis, previous cryptorchidism, and anosmia. MRI pointed out a large, left sylvian arachnoid cyst, agenesia of the olfactory bulbs/tracts complex, and hypoplasia of the left olfactory sulcus. The child was operated on by endoscopic fenestration of the cyst, followed by transient external drainage for subdural hygroma and microscopic fenestration for recurrence of the cyst. His statural growth is normal but the sexual development still delayed in spite of hormone replacement therapy.

Conclusion

According to the present and the other four cases in the literature, arachnoid cyst should be included among the anomalies possibly accompanying KS date although this association seems to be occasional as far as embryogenesis and physiopathology are concerned.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

References

  1. Maestre de San Juan A (1856) Teratología: falta total de los nervios olfatorios con anosmia en un individuo en quien existe una atrofia congénita de los testículos y miembro viril. El Siglo Med 3:218–222 [Spanish]

    Google Scholar 

  2. Kallmann F, Schoenfeld WA, Barrera SE (1944) The genetic aspects of primary eunuchoidism. Am J Ment Defic 48:203–236

    Google Scholar 

  3. Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-Van De Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33:463–465

    Article  PubMed  Google Scholar 

  4. Dodé C, Hardelin JP (2009) Kallmann syndrome. Eur J Hum Genet 17:139–146

    Article  PubMed  Google Scholar 

  5. Fernandes YB, Guerra Júnior G, Lemos SH, Matias MT, Damasceno BP, Hamamoto O, Marconi Júnior A, Honorato DC, Marins JL (1995) Unusual association of Kallmann syndrome and arachnoid cyst of the middle fossa. Report of a case. Arq Neuropsiquiatr 53:662–666 [Spanish]

    Article  CAS  PubMed  Google Scholar 

  6. Scuotto A, Accardo C, Rotondo M, Profeta L, Barbato R, Napolitano L, Lalli E, Amato G, Cirillo S (2002) Unusual association of Kallmann syndrome with empty sella and arachnoid cyst. Riv Neuroradiol 15:751–755

    Article  Google Scholar 

  7. Takahashi MP, Miyai I, Matsumura T, Nozaki S, Kang J (1997) A case of Kallmann syndrome with empty sella and arachnoid cyst. Rinsho Shinkeigaku 37:704–777 [Japanese]

    CAS  PubMed  Google Scholar 

  8. Tasar M, Bozlar U, Yetiser S, Bolu E, Tasar A, Gonul E (2005) Idiopathic hypogonadotrophic hypogonadism associated with arachnoid cyst of the middle fossa and forebrain anomalies: presentation of an unusual case. J Endocrinol Invest 28:935–939

    Article  CAS  PubMed  Google Scholar 

  9. Shin SJ, Sul Y, Kim JH, Cho JH, Kim GH, Kim JH, Choi JH, Yoo HW (2015) Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. Ann Pediatr Endocrinol Metab 20:27–33

    Article  PubMed  PubMed Central  Google Scholar 

  10. Tickotsky N, Moskovitz M (2014) Renal agenesis in Kallmann syndrome: a network approach. Ann Hum Genet 78:424–433

    Article  CAS  PubMed  Google Scholar 

  11. Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T (2011) Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J Rare Dis 6:41

    Article  PubMed  PubMed Central  Google Scholar 

  12. Kim SH (2015) Congenital hypogonadotropic hypogonadism and Kallmann syndrome: past, present, and future. Endocrinol Metab (Seoul) 30:456–466

    Article  CAS  Google Scholar 

  13. Boehm U, Bouloux PM, Dattani MT, de Roux N, Dodé C (2015) Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 11(9):547–64

    PubMed  Google Scholar 

  14. Cadman SM, Kim SH, Hu Y, González-Martínez D, Bouloux PM (2007) Molecular pathogenesis of Kallmann’s syndrome. Horm Res 67:231–242

    Article  CAS  PubMed  Google Scholar 

  15. Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Garmes HM, Mendonca BB, Latronico AC (2008) Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. J Clin Endocrinol Metab 93:4113–4118

    Article  CAS  PubMed  Google Scholar 

  16. Canto P, Munguía P, Söderlund D, Castro JJ, Méndez JP (2009) Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. J Androl 30(1):41–45

    Article  CAS  PubMed  Google Scholar 

  17. Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-Van Der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley WF Jr, Hoefsloot LH (2009) CHD7 mutations in patients initially diagnosed with Kallmann syndrome—the clinical overlap with CHARGE syndrome. Clin Genet 75:65–71

    Article  CAS  PubMed  Google Scholar 

  18. Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, Ayer-Le Lievre C, Petit C (1999) Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. Dev Dyn 215:26–44

    Article  CAS  PubMed  Google Scholar 

  19. Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T (2004) Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 89:1079–1088

    Article  CAS  PubMed  Google Scholar 

  20. Fechner A, Fong S, Mcgovern P (2008) A review of Kallmann syndrome: genetics, pathophysiology, and clinical management. Obstet Gynecol Surv 63:189–194

    Article  PubMed  Google Scholar 

  21. Chung WC, Moyle SS, Tsai PS (2008) Fibroblast growth factor 8 signaling through Fgf receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology 149:4997–5003

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Matsumoto S, Yamazaki C, Masumoto KH et al (2006) Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. Proc Natl Acad Sci U S A 103:4140–4145

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Ian Hutchin B, Damla Kota L, Taylor-Burd C, Ozkan Y, Cheng PJ, Gurbuz F, Tiong JD, Mengen E, Yuksel B, Kemal Topalogl A, Wra S (2016) CCDC141 mutation identified in anosmic hypogonadotropic hypogonadism (Kallmann syndrome) alters GnRH neuronal migration. Endocrinology 157:1956–1966

    Article  Google Scholar 

  24. Cheng PK, Chanoine JP (2001) Should the definition of micropenis vary according to ethnicity? Horm Res 55:278–281

    Article  CAS  PubMed  Google Scholar 

  25. Bry-Gauillard H, Trabado S, Bouligand J, Sarfati J, Francou B, Salenave S, Chanson P, Brailly-Tabard S, Guiochon-Mantel A, Young J (2010) Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics. Ann Endocrinol 71:158–162

    Article  CAS  Google Scholar 

  26. Sarfati J, Bouvattier C, Bry-Gauillard H, Cartes A, Bouligand J, Young J (2015) Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life. Orphanet J Rare Dis 10:71

    Article  PubMed  PubMed Central  Google Scholar 

  27. Kaplan JD, Bernstein JA, Kwan A, Hudgins L (2010) Clues to an early diagnosis of Kallmann syndrome. Am J Med Genet 152A:2796–2801

    Article  PubMed  Google Scholar 

  28. Pasqualini RQ, Bur G (1955) Hypoandrogenic syndrome with spermatogenesis. Fertil Steril 6:144–157

    Article  CAS  PubMed  Google Scholar 

  29. Doty RL, Shaman P, Kimmelman CP, Dann MS (1984) University of Pennsylvania Smell Identification Test: a rapid quantitative olfactory function test for the clinic. Laryngoscope 94:176–178

    Article  CAS  PubMed  Google Scholar 

  30. Tusset C, Trarbach EB, Silveira LF, Beneduzzi D, Montenegro L, Latronico AC (2011) Clinical and molecular aspects of congenital isolated hypogonadotropic hypogonadism. Arq Bras Endocrinol Metabol 55:501–511

    PubMed  Google Scholar 

  31. Fuerxer F, Carlier R, Iffenecker C, Schaison G, Doyon D (1996) Magnetic resonance imaging of the olfactory pathways in Kallmann de Morsier syndrome. J Neuroradiol 23:223–230

    CAS  PubMed  Google Scholar 

  32. Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, Pickman S, Kirk JM, Besser GM, Jacobs HS, Bouloux PM (1996) The neuroradiology of Kallmann’s syndrome: a genotypic and phenotypic analysis. J Clin Endocrinol Metab 81:3010–3017

    CAS  PubMed  Google Scholar 

  33. Manara R, Salvalaggio A, Favaro A, Palumbo V, Citton V, Elefante A, Brunetti A (2014) Brain changes in Kallmann syndrome. Am J Neuroradiol 35(9):1700–1706

    Article  PubMed  Google Scholar 

  34. Zaghouani H, Slim I, Zina NB, Mallat N, Tajouri H, Kraiem C (2013) Kallmann syndrome: MRI findings. Indian J Endocrinol Metab 17:142–145

    Article  Google Scholar 

  35. Madan R, Sawlani V, Gupta S, Phadke RV (2004) MRI findings in Kallmann syndrome. Neurol India 52:501–503

    CAS  PubMed  Google Scholar 

  36. Zhang Z, Sun X, Wang C, Wang G, Zhao B (2016) Magnetic resonance imaging findings in Kallmann syndrome: 14 cases and review of the literature. J Comput Assist Tomogr 40:39–42

    Article  PubMed  Google Scholar 

  37. Young J (2012) Approach to the male patient with congenital hypogonadotropic hypogonadism. J Clin Endocrinol Metab 97:707–718

    Article  CAS  PubMed  Google Scholar 

  38. Dwyer AA, Raivio T, Pitteloud N (2015) Gonadotrophin replacement for induction of fertility in hypogonadal men. Best Pract Res Clin Endocrinol Metab 29:91–103

    Article  CAS  PubMed  Google Scholar 

  39. Grumbach MM (2005) A window of opportunity: the diagnosis of gonadotropin deficiency in the male infant. J Clin Endocrinol Metab 90:3122–3127

    Article  CAS  PubMed  Google Scholar 

  40. Castañeyra-Perdomo A, Castañeyra-Ruiz L, González-Marrero I, Castañeyra-Ruiz A, Gonzalez-Toledo JM (2014) Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior. Med Hypotheses 82:74–76

    Article  PubMed  Google Scholar 

  41. Maione L, Cantone E, Nettore IC, Cerbone G, De Brasi D, Maione N, Young J, Di Somma C, Sinisi AA, Iengo M, Macchia PE, Pivonello R, Colao A (2016) Flavor perception test: evaluation in patients with Kallmann syndrome. Endocrine 52:236–246

    Article  CAS  PubMed  Google Scholar 

  42. Di Rocco C (1996) Arachnoid cysts. In: Youmans IR (ed) Neurological surgery. WB Saunders, Philadelphia, pp 967–994

    Google Scholar 

  43. Galassi E, Tognetti F, Gaist G, Fagioli L, Frank F, Frank G (1982) CT scan and metrizamide CT cisternography in arachnoid cysts of the middle cranial fossa: classification and pathophysiological aspects. Surg Neurol 17:363–369

    Article  CAS  PubMed  Google Scholar 

  44. Huang JH, Mei WZ, Chen Y, Chen JW (2015) Analysis on clinical characteristics of intracranial arachnoid cysts in 488 pediatric cases. Int J Clin Exp Med 8:18343–18350

    PubMed  PubMed Central  Google Scholar 

  45. Di Rocco C (2010) Sylvian fissure arachnoid cysts: we do operate on them but should it be done? Childs Nerv Syst 26:173–175

    Article  PubMed  Google Scholar 

  46. Di Rocco C, Tamburrini G, Caldarelli M, Velardi F, Santini P (2003) Prolonged ICP monitoring in Sylvian arachnoid cysts. Surg Neurol 60:211–218

    Article  PubMed  Google Scholar 

  47. Gangemi M, Seneca V, Colella G, Cioffi V, Imperato A, Maiuri F (2011) Endoscopy versus microsurgical cyst excision and shunting for treating intracranial arachnoid cysts. J Neurosurg Pediatr 8:158–164

    Article  PubMed  Google Scholar 

  48. Schulz M, Kimura T, Akiyama O, Shimoji K (2015) Endoscopic and microsurgical treatment of sylvian fissure arachnoid cysts—clinical and radiological outcome. World Neurosurg 84:327–336

    Article  PubMed  Google Scholar 

  49. Tamburrini G, Dal Fabbro M, Di Rocco C (2008) Sylvian fissure arachnoid cysts: a survey on their diagnostic workout and practical management. Childs Nerv Syst 24:593–604

    Article  PubMed  Google Scholar 

  50. Tamburrini G, Caldarelli M, Massimi L, Santini P, Di Rocco C (2003) Subdural hygroma: an unwanted result of Sylvian arachnoid cyst marsupialization. Childs Nerv Syst 19:159–165

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Luca Massimi.

Ethics declarations

Conflict of interest

The authors declare that they have no competing interests.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Massimi, L., Izzo, A., Paternoster, G. et al. Arachnoid cyst: a further anomaly associated with Kallmann syndrome?. Childs Nerv Syst 32, 1607–1614 (2016). https://doi.org/10.1007/s00381-016-3154-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-016-3154-7

Keywords

Navigation