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Tijdschrift voor kindergeneeskunde

, Volume 75, Issue 4, pp 166–170 | Cite as

Het syndroom van Joubert: beschrijving, diagnostiek en begeleiding

  • D. E. Fransen van de Putte
  • D. Lindhout
  • H. Y. Kroes
Artikelen
  • 57 Downloads

Samenvatting

Het syndroom van Joubert is een zich congenitaal manifesterende ontwikkelingsstoornis met als belangrijkste kenmerken hypotonie, ataxie en een variabele motorische en cognitieve ontwikkelingsachterstand. Karakteristiek zijn daarnaast een afwijkend ademhalingspatroon (episodes van tachypnoe afgewisseld met apnoe) en oogbewegingsstoornissen (oculomotore apraxie, nystagmus). Ernstige nierfunctie- en leverfunctiestoornissen en een groeiachterstand komen bij een deel van de patiënten voor. De diagnose wordt meestal bevestigd door middel van een mri-scan van het brein, waarop het karakteristieke ‘molar tooth sign’ wordt gezien. De differentiaaldiagnose wordt kort besproken. De overervingswijze is autosomaal recessief. Inmiddels zijn er vier genen (ahi1,nphp1,cep290 en mks3) en twee loci bekend die een rol spelen bij het syndroom van Joubert. dna-diagnostiek is in een deel van de gevallen mogelijk. De begeleiding van jbs-patiënten vergt een multidisciplinaire aanpak.

Abstract Summary

Joubert syndrome is a developmental brain disorder manifest from birth, with the hallmark characteristics of hypotonia, ataxia and a variable degree of psychomotor developmental delay. Other characteristic symptoms are episodic apnea and hyperpnea and abnormal ocular movements (oculomotor apraxia, nystagmus). Severe kidney and liver dysfunction and retarded growth are features in some patients. The diagnosis is confirmed by the presence of a characteristic ‘molar tooth sign’ on mri-imaging of the brain. The differential diagnosis is discussed briefly. Inheritance is autosomal recessive. Four genes (ahi1,nphp1,cep290 and mks3) and two loci are known to be involved in Joubert syndrome. Diagnostic dna-testing is possible in some cases. Optimal care of Joubert patients requires a multidisciplinary approach.

Literatuur

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Copyright information

© Bohn Stafleu van Loghum 2007

Authors and Affiliations

  • D. E. Fransen van de Putte
    • 1
  • D. Lindhout
  • H. Y. Kroes
  1. 1.

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