Abstract
Abstract
In this paper, a 7 month old male case born to a first degree cousin marriage, referred to our department for oculomotor apraxia and hypotonia, diagnosed as having Joubert syndrome is discussed. Broad forehead, depressed nasal bridge, hypertelorism, hypotonia and oculomotor apraxia were found in physical examination. Pulmoner stenosis was reported in echocardiography. His peripheral blood cytogenetic analysis revealed 46, XY normal constitutional karyotype. “Molar tooth sign”, a pathognomonic finding for this syndrome was observed in cranial magnetic resonance images. In Joubert syndrome; dysmorphic skeletal findings, liver and kidney problems can be observed. In early diagnosed cases, like our case, clinical follow up is important for detetion of the liver and kidney involvement.
Key words: Joubert syndrome, oculomotor apraxia, molar sign, hypotonia, hypertelorism.
Özet
Makalede 1. derece kuzen evliliği bulunan ailenin okulomotor apraksi şikayeti olan ve Joubert sendromu tanısı almış 7 aylık erkek çocuğu sunulmaktadır. Fizik muayenede geniş alın yapısı, basık burun kökü, hipertelorizm, hipotoni ve okulomotor apraksi saptanmıştır. Ekokardiyografi (EKO) pulmoner stenoz varlığını göstermiştir. Olgunun periferik kan sitogenetik analizinde 46, XY normal karyotip yapılanması bulunmuş olup, kranial MR sonucunda bu sendrom için tanı koydurucu olan “molar diş” görünümü saptanmıştır. Bu tanıyı alan olgularda dismorfik iskelet yapısı, karaciğer ve böbrek tutulumu bulguları da olabileceği göz önünde bulundurulmalıdır. Olgumuz gibi erken tanı konan hastalarda böbrek ve karaciğer tutulumu yönünden klinik takip önemlidir.
Anahtar sözcükler: Joubert sendromu, okulomotor apraksi, molar diş görünümü, hipotoni, hipertelorizm.
Keywords
References
- Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders.Am J Med Genet C Semin Med Genet 2009 15;151:326-40.
- Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009; 16: 143-54.
- Maria BL, Bolthauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999; 14: 583-90.
- Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM, Jr, Maria BL, Barkovich AJ, Dobyns WB. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet. 2004; 125A: 125-134.
- Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A. Joubert syndrome: long term follow-up. Dev Med Child Neurol. 2004; 46: 694-9.
- Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992; 43: 726-31.
- Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005; 15: 324-31.
Abstract
In this paper, a 7 month old male case born to a first degree cousin marriage, referred to our department for oculomotor apraxia and hypotonia, diagnosed as having Joubert syndrome is discussed. Broad forehead, depressed nasal bridge, hypertelorism, hypotonia and oculomotor apraxia were found in physical examination. Pulmoner stenosis was reported in echocardiography. His peripheral blood cytogenetic analysis revealed 46, XY normal constitutional karyotype. “Molar sign”, a pathognomonic finding for this syndrome was observed in cranial magnetic resonance analyses. In Joubert syndrome; dysmorphic skeletal findings, liver and kidney problems can be observed. In early diagnosed cases, like our case, clinical follow up is important for finding the liver and kidney involvement.
References
- Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders.Am J Med Genet C Semin Med Genet 2009 15;151:326-40.
- Doherty D. Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009; 16: 143-54.
- Maria BL, Bolthauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999; 14: 583-90.
- Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM, Jr, Maria BL, Barkovich AJ, Dobyns WB. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet. 2004; 125A: 125-134.
- Hodgkins PR, Harris CM, Shawkat FS, Thompson DA, Chong K, Timms C, Russell-Eggitt I, Taylor DS, Kriss A. Joubert syndrome: long term follow-up. Dev Med Child Neurol. 2004; 46: 694-9.
- Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet. 1992; 43: 726-31.
- Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev. 2005; 15: 324-31.
Details
| Primary Language | English |
|---|---|
| Journal Section | Case Reports |
| Authors | |
| Publication Date | March 11, 2010 |
| Published in Issue | Year 2010Volume: 32 Issue: 3 |