Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome
Yıl: 2022 Cilt: 25 Sayı: 1 Sayfa Aralığı: 112 - 116 Metin Dili: İngilizce DOI: 10.5505/kpd.2022.40326 İndeks Tarihi: 02-07-2022
Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome
Öz: Joubert Syndrome is a rare genetic and clinical disorder
that affects many different parts of the body, especially
the central nervous system, musculoskeletal system, kidneys,
eyes, respiratory system, endocrine system and
liver. In addition to all these affected organ systems, dysmorphic
facial features can also be observed in people
with Joubert Syndrome. Symptoms and clinical signs in
individuals with Joubert Syndrome vary greatly in several
ways, to the extent where afflicted individuals even from
the same family might have completely different clinical
presentations, when compared to one another.
Although the clinical features of Joubert Syndrome
appear in the neonatal period, the diagnosis can usually
take years after the symptoms appear. A prevalence of
between 1 per 80 000 and 1 per 100 000 live births has
been reported by many investigators. Despite its heterogenous
symptom cluster, poor outcome in cases of
Joubert Syndrome presenting predominantly with hypotonia
and global developmental delay has been reported.
Although mental retardation has been reported as
the primarily anticipated psychiatric condition in cases
with Joubert Syndrome, some other clinical sources
within relevant literature identify autism spectrum disorders
as another possible psychiatric diagnosis observed
in affected individuals. It is known that there are a limited
number of cases with Joubert Syndrome, it is a rare
condition and the main psychiatric finding expected in
the course of the syndrome is mental retardation. With
this case report, we have aimed to discuss a case of
Joubert Syndrome who had presented with symptoms of
major depressive disorder that mimicked mental retardation.
Anahtar Kelime: Mental Retardasyonu taklit eden Major Depresif Bozukluklu nadir bir olgu: Joubert Sendromu
Öz: Joubert Sendromu özellikle santral sinir sistemi, kasiskelet
sistemi, böbrekler, gözler, solunum sistemi,
endokrin sistem ve karaciğer olmak üzere vücudun
birçok kısmını etkileyen klinik ve genetik nadir görülen
bir hastalıktır. Joubert Sendromu olan kişilerde tüm bu
etkilenen organ sistemlerine ek olarak dismorfik yüz özellikleri
de gözlenebilmektedir. Aynı ailenin üyeleri olsalar
dahi Joubert Sendromu’na sahip kişilerdeki belirtiler ve
semptomlar birçok düzeyde farklılık gösterebilir. Joubert
sendromuna ait klinik özellikler yenidoğan döneminde
ortaya çıkmasına rağmen, tanının konulması genellikle
semptomların ortaya çıkışını takiben yıllar sonrasını bulabilmektedir.
Joubert Sendromu her 80 bin doğumda bir
ile her 100 bin doğumda bir oranları arasında
görülebilmektedir. Joubert Sendromu’nun belirti kümesi
heterojen olmakla birlikte, hipotoni ve motor mental gerilikle
seyreden vakaların prognozu kötüdür. Joubert
Sendrom’lu olgularda psikiyatrik belirti olarak mental
retardasyon beklense de bazı kaynaklarda bu olgularda
otizm spektrum bozukluklarına da rastlandığı
belirtilmiştir. Joubert sendromuna sahip sınırlı sayıda
olgu bulunduğu, nadir görülen bir sendrom olduğu ve
sendromun gidişatında beklenen temel psikiyatrik bulgunun
mental retardasyon olduğu bilinmektedir. Bu olgu
sunumunda mental retardasyonu taklit eden major
depresif bozukluk semptomlarıyla prezente olan Joubert
Sendromu olgusunu tartışmayı amaçlamaktayız.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | ünal n, eyuboglu d (2022). Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. , 112 - 116. 10.5505/kpd.2022.40326 |
| Chicago | ünal nazlı ece,eyuboglu damla Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. (2022): 112 - 116. 10.5505/kpd.2022.40326 |
| MLA | ünal nazlı ece,eyuboglu damla Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. , 2022, ss.112 - 116. 10.5505/kpd.2022.40326 |
| AMA | ünal n,eyuboglu d Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. . 2022; 112 - 116. 10.5505/kpd.2022.40326 |
| Vancouver | ünal n,eyuboglu d Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. . 2022; 112 - 116. 10.5505/kpd.2022.40326 |
| IEEE | ünal n,eyuboglu d "Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome." , ss.112 - 116, 2022. 10.5505/kpd.2022.40326 |
| ISNAD | ünal, nazlı ece - eyuboglu, damla. "Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome". (2022), 112-116. https://doi.org/10.5505/kpd.2022.40326 |
| APA | ünal n, eyuboglu d (2022). Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. Klinik Psikiyatri Dergisi, 25(1), 112 - 116. 10.5505/kpd.2022.40326 |
| Chicago | ünal nazlı ece,eyuboglu damla Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. Klinik Psikiyatri Dergisi 25, no.1 (2022): 112 - 116. 10.5505/kpd.2022.40326 |
| MLA | ünal nazlı ece,eyuboglu damla Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. Klinik Psikiyatri Dergisi, vol.25, no.1, 2022, ss.112 - 116. 10.5505/kpd.2022.40326 |
| AMA | ünal n,eyuboglu d Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. Klinik Psikiyatri Dergisi. 2022; 25(1): 112 - 116. 10.5505/kpd.2022.40326 |
| Vancouver | ünal n,eyuboglu d Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome. Klinik Psikiyatri Dergisi. 2022; 25(1): 112 - 116. 10.5505/kpd.2022.40326 |
| IEEE | ünal n,eyuboglu d "Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome." Klinik Psikiyatri Dergisi, 25, ss.112 - 116, 2022. 10.5505/kpd.2022.40326 |
| ISNAD | ünal, nazlı ece - eyuboglu, damla. "Major Depressive Disorder mimicking Mental Retardation: A rare case of Joubert Syndrome". Klinik Psikiyatri Dergisi 25/1 (2022), 112-116. https://doi.org/10.5505/kpd.2022.40326 |
