Subdural Hygroma in an Infant with Marfan's Syndrome

Abstract

Based on a patient encounter in which genetically confirmed Marfan's syndrome (MFS) underlay a spontaneously resolving subdural hygroma (SDHy) diagnosed in infancy, we review the literature of MFS clinically manifest in early life (early-onset MFS [EOMFS]) and of differential diagnoses of SDHy and subdural hemorrhage (SDHe) at this age. We found that rare instances of SDHy in the infant are associated with EOMFS. The most likely triggers are minimal trauma in daily life or spontaneous intracranial hypotension. The differential diagnosis of etiologies of SDHy include abusive and nonabusive head trauma, followed by perinatal events and infections. Incidental SDHy and benign enlargement of the subarachnoid spaces must further be kept in mind. SDHy exceptionally also may accompany orphan diseases. Thus, in the infant, EOMFS should be considered as a cause of SDHe and/or SDHy. Even in the absence of congestive heart failure, the combination of respiratory distress syndrome, muscular hypotonia, and joint hyperflexibility signals EOMFS. If EOMFS is suspected, monitoring is indicated for development of SDHe and SDHy with or without macrocephaly. Close follow-up is mandatory.

Keywords

child abuse - infant - Marfan's syndrome - neonate - subdural hemorrhage - subdural hygroma

Article Summary

Through case presentation and literature review, this article provides information on subdural hemorrhage and hygroma formation in pediatric patients with early-onset Marfan's syndrome.

Authors' Contributions

M.M. and L.B. conceptualized and designed the work, collected and interpreted data, and drafted the manuscript. D.K. and S.S.-B. conceptualized and supervised the work, performed metabolic analyses and interpretation, and revised the article critically for important intellectual content. I.O.K. and T.K. conceptualized the work, performed cardiologic examinations and interpretation, and revised the article critically. All authors read and approved the final version of the manuscript as submitted and agree to be accountable for all aspects of the work.

Publikationsverlauf

Eingereicht: 19. Januar 2021

Angenommen: 05. April 2021

Artikel online veröffentlicht:
07. Juli 2021

• References

• 1 Hobbs C, Childs A-M, Wynne J, Livingston J, Seal A. Subdural haematoma and effusion in infancy: an epidemiological study. Arch Dis Child 2005; 90 (09) 952-955
• 2 Groth KA, Hove H, Kyhl K. et al. Prevalence, incidence, and age at diagnosis in Marfan syndrome. Orphanet J Rare Dis 2015; 10: 153
• 3 Marfan BJA. [An instance of congenital deformity of all four limbs, more prominent distally, characterised by lengthening of the bones with some increase in gracility]. Bull Mem Soc Med Hop Paris 1896; 13: 220-226
• 4 Loeys BL, Dietz HC, Braverman AC. et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47 (07) 476-485
• 5 Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366 (9501): 1965-1976
• 6 Hennekam RCM. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 2005; 139 (01) 1-1
• 7 Mueller GC, Stark V, Steiner K, Weil J, von Kodolitsch Y, Mir TS. The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome. Acta Paediatr 2013; 102 (02) e84-e89
• 8 Tiecke F, Katzke S, Booms P. et al. Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet 2001; 9 (01) 13-21
• 9 Maeda J, Kosaki K, Shiono J, Kouno K, Aeba R, Yamagishi H. Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32. Heart Vessels 2016; 31 (10) 1717-1723
• 10 Ardhanari M, Barbouth D, Swaminathan S. Early-onset Marfan syndrome: a case series. J Pediatr Genet 2019; 8 (02) 86-90
• 11 Knirsch W, Kurtz C, Häffner N. et al. Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study. Am J Med Genet A 2006; 140 (07) 775-781
• 12 Schievink WI, Gordon OK, Tourje J. Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. Neurosurgery 2004; 54 (01) 65-70 , discussion 70–71
• 13 Faivre L, Masurel-Paulet A, Collod-Béroud G. et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009; 123 (01) 391-398
• 14 Rosdy B, Kollár K, Móser J, Várallyay G, Kordas M. [Severe intracranial hypotension in an adolescent with Marfan syndrome. Case report] (in Hu). Ideggyogy Sz 2009; 62 (5-6): 181-184
• 15 Milledge JT, Ades LC, Cooper MG, Jaumees A, Onikul E. Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. J Paediatr Child Health 2005; 41 (1-2): 68-71
• 16 Puget S, Kondageski C, Wray A. et al. Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report. J Neurosurg 2007; 106 (01) 48-52
• 17 Voermans NC, Dijk KGJ, Bos MM, Geus-Oei LF, Verrips A, Lindert EJ. Postural headache in Marfan syndrome associated with spinal cysts and liquor hypotension. Neuropediatrics 2009; 40 (04) 201-204
• 18 Rosser T, Finkel J, Vezina G, Majd M. Postural headache in a child with Marfan syndrome: case report and review of the literature. J Child Neurol 2005; 20 (02) 153-155
• 19 Cheuret E, Edouard T, Mejdoubi M. et al. Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature. Childs Nerv Syst 2008; 24 (04) 509-513
• 20 Buchanan R, Wyatt GP. Marfan's syndrome presenting as an intrapartum death. Arch Dis Child 1985; 60 (11) 1074-1076
• 21 Mankad K, Chhabda S, Lim W. et al. The neuroimaging mimics of abusive head trauma. Eur J Paediatr Neurol 2019; 23 (01) 19-30
• 22 Rooks VJ, Eaton JP, Ruess L, Petermann GW, Keck-Wherley J, Pedersen RC. Prevalence and evolution of intracranial hemorrhage in asymptomatic term infants. AJNR Am J Neuroradiol 2008; 29 (06) 1082-1089
• 23 Carpenter SL, Abshire TC, Anderst JD. Section on Hematology/Oncology and Committee on Child Abuse and Neglect of the American Academy of Pediatrics. Evaluating for suspected child abuse: conditions that predispose to bleeding. Pediatrics 2013; 131 (04) e1357-e1373
• 24 Blesken M, Franke I, Freiberg J. et al. Kinderschutzleitlinienbüro. AWMF S3+ Leitlinie Kindesmisshandlung, -missbrauch, -vernachlässigung unter Einbindung der Jugendhilfe und Pädagogik (Kinderschutzleitlinie), Langfassung 1.0, 2019. Accessed June 2, 2021 at: https://www.awmf.org/uploads/tx_szleitlinien/027-069l_S3_Kindesmisshandlung-missbrauch-vernachlaessigung-Kinderschutzleitlinie_2019-02_1_01.pdf
• 25 Vester MEM, Bilo RAC, Karst WA, Daams JG, Duijst WLJM, van Rijn RR. Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review. Forensic Sci Med Pathol 2015; 11 (03) 405-415
• 26 De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol 2004; 127 (05) 491-500
• 27 Palomo T, Vilaça T, Lazaretti-Castro M. Osteogenesis imperfecta: diagnosis and treatment. Curr Opin Endocrinol Diabetes Obes 2017; 24 (06) 381-388
• 28 Wester K. Two infant boys misdiagnosed as “shaken baby” and their twin sisters: a cautionary tale. Pediatr Neurol 2019; 97: 3-11
• 29 Lee HC, Chong S, Lee JY. et al. Benign extracerebral fluid collection complicated by subdural hematoma and fluid collection: clinical characteristics and management. Childs Nerv Syst 2018; 34 (02) 235-245
• 30 Wityk RJ, Zanferrari C, Oppenheimer S. Neurovascular complications of marfan syndrome: a retrospective, hospital-based study. Stroke 2002; 33 (03) 680-684