Joubert syndrome with oculomotor apraxia: a case report

Volume: 32 Number: 3 March 11, 2010
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Joubert syndrome with oculomotor apraxia: a case report

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

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Details

Primary Language

English

Subjects

-

Journal Section

-

Authors

Salih Kozan

Deniz Torun

Muhterem Bahçe

Publication Date

March 11, 2010

Submission Date

March 11, 2010

Acceptance Date

-

Published in Issue

Year 2010 Volume: 32 Number: 3

IZ

https://izlik.org/JA84WM57MU

Cite

RIS / Bibtex
APA
Rosti, R., Kozan, S., Torun, D., Bahçe, M., & Güran, Ş. (2010). Joubert syndrome with oculomotor apraxia: a case report. Cumhuriyet Medical Journal, 32(3), 352-355. https://izlik.org/JA84WM57MU
AMA
1.Rosti R, Kozan S, Torun D, Bahçe M, Güran Ş. Joubert syndrome with oculomotor apraxia: a case report. CMJ. 2010;32(3):352-355. https://izlik.org/JA84WM57MU
Chicago
Rosti, Rasim, Salih Kozan, Deniz Torun, Muhterem Bahçe, and Şefik Güran. 2010. “Joubert Syndrome With Oculomotor Apraxia: A Case Report”. Cumhuriyet Medical Journal 32 (3): 352-55. https://izlik.org/JA84WM57MU.
EndNote
Rosti R, Kozan S, Torun D, Bahçe M, Güran Ş (September 1, 2010) Joubert syndrome with oculomotor apraxia: a case report. Cumhuriyet Medical Journal 32 3 352–355.
IEEE
[1]R. Rosti, S. Kozan, D. Torun, M. Bahçe, and Ş. Güran, “Joubert syndrome with oculomotor apraxia: a case report”, CMJ, vol. 32, no. 3, pp. 352–355, Sept. 2010, [Online]. Available: https://izlik.org/JA84WM57MU
ISNAD
Rosti, Rasim - Kozan, Salih - Torun, Deniz - Bahçe, Muhterem - Güran, Şefik. “Joubert Syndrome With Oculomotor Apraxia: A Case Report”. Cumhuriyet Medical Journal 32/3 (September 1, 2010): 352-355. https://izlik.org/JA84WM57MU.
JAMA
1.Rosti R, Kozan S, Torun D, Bahçe M, Güran Ş. Joubert syndrome with oculomotor apraxia: a case report. CMJ. 2010;32:352–355.
MLA
Rosti, Rasim, et al. “Joubert Syndrome With Oculomotor Apraxia: A Case Report”. Cumhuriyet Medical Journal, vol. 32, no. 3, Sept. 2010, pp. 352-5, https://izlik.org/JA84WM57MU.
Vancouver
1.Rasim Rosti, Salih Kozan, Deniz Torun, Muhterem Bahçe, Şefik Güran. Joubert syndrome with oculomotor apraxia: a case report. CMJ [Internet]. 2010 Sep. 1;32(3):352-5. Available from: https://izlik.org/JA84WM57MU