Subscribe to RSS
Download PDF
DOI: 10.1055/s-0038-1628395
Das Noonan-Syndrom
Ein psychiatrischer Kolibri?Noonan syndromeA psychiatric curiosity?Publication History
Eingegangen am:
20 April 2011
angenommen am:
04 May 2011
Publication Date:
23 January 2018 (online)
Zusammenfassung
Das Noonan-Syndrom (NS) ist eine genetisch bedingte Entwicklungsstörung, die durch Kleinwuchs, kardiale Fehlbildungen sowie charakteristische Gesichtsdysmorphien gekennzeichnet ist. Darüber hinaus fallen Patienten häufig durch psychiatrisch-psychologisch relevante Symptome auf, die nur selten die diagnostischen Kriterien einer psychischen Störung nach der ICD-10 voll erfüllen. Trotz der hohen Inzidenz dieser Erkrankung ist das NS in der Erwachsenenpsychiatrie weitgehend unbekannt, stellt jedoch bei Patienten mit Dysmorphien unterschiedlichen Ausmaßes mit psychiatrischen Symptomen eine wichtige differenzialdiagnostische Überlegung dar. Dieser Artikel gibt eine Übersicht über die psychiatrischen und über die für die Diagnose zielführenden somatischen Symptome sowie das diagnostische Vorgehen bei der Verdachtsdiagnose des NS.
Summary
Noonan syndrome (NS) is a genetic and clinically variable developmental disorder characterized by short stature, cardiac defects and typical facial dysmorphism. In addition, patients with NS often show psychiatric and psychological symptoms which do not meet diagnostic criteria for a specific psychiatric disorder. Despite of the high incidence of the syndrome, the NS is largely unknown in adult psychiatry although it represents an important differential diagnostic consideration in patients with varying degrees of dysmorphism and psychiatric symptoms. This article gives an overview of somatic and psychiatric symptoms and the diagnostic approach to the diagnosis of NS.
-
Literatur
- 1 Mendez HM, Opitz JM. Noonan syndrome: a review. Am J Med Genet 1985; 21 (03) 493-506.
- 2 Noonan JE, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963; 63: 467-70.
- 3 Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 2009; 71 (04) 185-93.
- 4 Schlüter G, Rossius MM, Wessel A, Zoll B. Das Noonan-Syndrom. Deutsches Ärzteblatt 2003; 18: 1192-7.
- 5 Tartaglia M. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29 (04) 465-8.
- 6 Schubbert S. et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38 (03) 331-6.
- 7 van der Burgt I. et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr 1999; 135 (06) 707-13.
- 8 Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA. The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child 2007; 92 (02) 128-32.
- 9 Verhoeven W, Wingbermuhle E, Egger J, Van der Burgt I, Tuinier S. Noonan syndrome: psychological and psychiatric aspects. Am J Med Genet A 2008; 146A (02) 191-6.
- 10 Wood A, Massarano A, Super M, Harrington R. Behavioural aspects and psychiatric findings in Noonan’s syndrome. Arch Dis Child 1995; 72 (02) 153-5.
- 11 Sarimski K. Developmental and behavioural phenotype in Noonan syndrome?. Genet Couns 2000; 11 (04) 383-90.
- 12 Verhoeven WM, Hendrikx JL, MC MD, Egger JI, Van der Burgt I, Tuinier S. Alexithymia in Noonan syndrome. Genet Couns 2004; 15 (01) 47-52.
- 13 Lee DA, Portnoy S, Hill P, Gillberg C, Patton MA. Psychological profile of children with Noonan syndrome. Dev Med Child Neurol 2005; 47 (01) 35-8.
- 14 Mahendran R, Aw SC. Noonan’s syndrome with mental retardation presenting with an affective disorder – case report. Singapore Med J 1989; 30 (03) 306-7.
- 15 Horiguchi T, Takeshita K. Neuropsychological developmental change in a case with Noonan syndrome: longitudinal assessment. Brain Dev 2003; 25 (04) 291-3.
- 16 Cesarini L. et al. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade. Am J Med Genet A 2009; 149A (02) 140-6.
- 17 Pierpont EI, Pierpont ME, Mendelsohn NJ, Roberts AE, Tworog-Dube E, Seidenberg MS. Genotype differences in cognitive functioning in Noonan syndrome. Genes Brain Behav 2009; 08 (03) 275-82.
- 18 Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010; 01 (01) 2-26.
- 19 Bertola DR. et al. Cardiac findings in 31 patients with Noonan’s syndrome. Arq Bras Cardiol 2000; 75 (05) 409-12.
- 20 Schlüter G, Rossius M, Wessel A, Zoll B. Das Noonan-Syndrom. Deutsches Ärzteblatt 2003; 100 (A 18): 1192-7.
- 21 Sharland M, Burch M, McKenna WM, Paton MA. A clinical study of Noonan syndrome. Arch Dis Child 1992; 67 (02) 178-83.
- 22 Marcus KA, Sweep CG, van der Burgt I, Noordam C. Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab 2008; 21 (11) 1079-84.
- 23 Allanson JE. Noonan syndrome. Am J Med Genet C Semin Med Genet 2007; 145C (03) 274-9.
- 24 van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53 (02) 187-91.
- 25 Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W. et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004; 144 (03) 368-74.
- 26 Allanson JE. Noonan syndrome. J Med Genet 1987; 24 (01) 9-13.
- 27 Romano AA. et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126 (04) 746-59.
- 28 Duncan WJ. et al. A comprehensive scoring system for evaluating Noonan syndrome. Am J Med Genet 1981; 10 (01) 37-50.
- 29 Sharland M, Morgan M, Smith G, Burch M, Patton MA. Genetic counselling in Noonan syndrome. Am J Med Genet 1993; 45 (04) 437-40.
- 30 van der Burgt I. Noonan syndrome. Orphanet J Rare Dis 2007; 14 (02) 4.
- 31 Tofil NM, Winkler MK, Watts RG, Noonan J. The use of recombinant factor VIIa in a patient with Noonan syndrome and life-threatening bleeding. Pediatr Crit Care Med 2005; 06 (03) 352-4.
- 32 Noordam K, van der Burgt I, Brunner HG, Otten BJ. The relationship between clinical severity of Noonan’s syndrome and growth, growth hormone (GH) secretion and response to GH treatment. J Pediatr Endocrinol Metab 2002; 15 (02) 175-80.
- 33 Noordam C. Growth hormone and the heart in Noonan syndrome. Horm Res 2009; 72 (Suppl. 02) 49-51.