TY  - JOUR
TI  - Major Depressive Disorder mimicking Mental
Retardation: A rare case of Joubert
Syndrome
AB  - 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.
AU  - eyuboglu, damla
AU  - ünal, nazlı ece
DO  - 10.5505/kpd.2022.40326
PY  - 2022
JO  - Klinik Psikiyatri Dergisi
VL  - 25
IS  - 1
SN  - 1302-0099
SP  - 112
EP  - 116
DB  - TRDizin
UR  - http://search/yayin/detay/529118
ER  -