European Psychiatry - Volume 33 - March 2016

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S578 24th European Congress of Psychiatry / European Psychiatry 33S (2016) S349–S805
half had a pharmacodynamic gene variant (related to dopamine or
serotonin pathway).
Conclusion the Neurofarmagen® testing tool may be useful in the
clinical practice in order to avoid drug-induced side effects.
Disclosure of interest The authors have not supplied their decla-
ration of competing interest.
EV713
Psychiatric manifestations of
Niemann-Pick type C disease – two
case reports
J. Rebelo ∗, M. Oliveira , P. Nunes
Centro Hospitalar de São João, E.P.E., Psychiatry, Porto, Portugal
∗ Corresponding author.
Introduction Niemann-Pick type C disease (NPCD) is a rare
metabolic illness, with autosomal recessive inheritance. NPCD has
a heterogeneous presentation, with non-specific psychiatric symp-
toms, mostly affective and psychotic features and also cognitive
deficits.
Objectives andmethods We present the case reports of two broth-
ers with an adolescent-adult onset and discuss the evolution of
their neuropsychiatric manifestations.
Results The patients have now 35 and 31 years old and the
youngest was the first to develop clinical manifestations of the
disease. From 16 years old, he developed unspecified neurological
impairment with gait imbalance. In the next years, the neuro-
logic manifestations exacerbated, with dysarthria, ataxic gait, and
his academic performance declined. With 24 years old, he pre-
sented acute psychosis, with unstructured delusion and auditory
hallucinations. The acute psychotic symptomatology remittedwith
olanzapine but he revealed social withdrawal, apathy and progres-
sive cognitive decline that persist until now. His brother, whose
diagnosis wasmade in the course of the family genetic study, devel-
oped the first signs of the NPCD with 19 years old. He presented
neuropsychiatric compromise, with impaired learning, social iso-
lation and insomnia. They are receiving specific treatment with
miglustat and symptomatic treatment for the psychiatric manifes-
tations.
Conclusions NPCD is a rare metabolic disease, with neuropsychi-
atric compromise. No general psychopathological profile has been
associated to NPCD. Sometimes psychiatric symptoms dominate
the initial clinical presentation, withneuro-visceral signs appearing
later. An atypical psychiatric symptomatology should be exten-
sively investigated in order to exclude organic causes, including
metabolic diseases like NPCD.
Disclosure of interest The authors have not supplied their decla-
ration of competing interest.
EV714
Psychiatric disturbances in a patient
with melas syndrome: A case report
M.C. Rizza ∗ i Marco elicato ecchi
C. Gramaglia rosperini antello eppegno
1 Università del Piemonte Orientale, Traslational Medicine, Novara,
Italy
2 Azienda Ospedaliera Universitaria “Maggiore della Carità”,
Traslational Medicine, Novara, Italy
∗ Corresponding author.
Introduction Mitochondrial disorders of energetic metabolism
(MD) represent a heterogeneous group of diseases manifesting at
any age and its one of a number of mitochondria syndromes that
share the common characteristics of encephalopathy and myopa-
thy. The clinical expression of MELAS (Mitochondrial Myopathy,
Encephalopathy, Lactic Acidosis and Stroke-like episodes) is highly
variable and ppsychiatric symptoms are rarely reported in liter-
ature even if are more common in MELAS syndrome than in the
general population.
Objective The first aim of the study is describing the clinically
observed primary psychiatric symptoms in a patient affected by
MELAS syndrome admitted to the Psychiatric ward. The second
aim is to go back over the diagnostic process, which led, from the
uncommon psychiatric symptoms and signs to the final genetic
diagnosis of MD.
Methods and results We report the case of a 44-year-old male
with MELAS in whom psychiatric symptoms preceded the estab-
lishment of the clinical diagnosis for several months. Diagnosis
was initially based on the neuroimaging and metabolic findings
and subsequently confirmed with genetic analysis.
Conclusions In case of aggressive and paranoid behaviour with
delusions of persecution and disorganised behaviour mmitochon-
drial disorders deserve consideration as part of the differential
diagnosis, especially if there is suspected involvement of other
organ groups or positive family history of MD. There is no specific
consensus approach for treating MELAS syndrome. Management is
largely symptomatic and should involve a multidisciplinary team.
Disclosure of interest The authors have not supplied their decla-
ration of competing interest.
EV715
Implications of DNA copy number
variations in
attention-deficit/hyperactivity
disorder: An update review
M.E. Palmeira ∗, L.B. De Mesquita Gouveia
1 Escola Bahiana de Medicina e Saúde Pública, Medicine, Salvador,
Brazil
2 Federal University of Alagoas, Medicine, Maceió, Brazil
∗ Corresponding author.
Introduction Attention deficit hyperactivity disorder (ADHD) is a
highly heritable disorder. Rare genetic variants, specifically large,
rare copy number variants (CNVs) play an important role in ADHD
and others neurodevelopmental disorders.
Objectives Identify previous studied correlations between CNVs
and ADHD, analysing physiological and genetic pathways in asso-
ciation with another neuropsychiatric disorders.
Aims Identify most commons CNVs variations present in ADHD;
evaluate similarity between results found in researches in relation
to pleiotropy and ADHD phenotypes.
Methods A scientific originals articles researchwas conducted on
PubMed. Used keywords ‘Attention Deficit Disorder with Hyperac-
tivity’ and ‘DNA Copy Number Variations’. Among twenty articles
found, published in the last ten years, sixteen articles were selected
based on relevance of information.
Results Rare CNVs were described in association with ADHD.
Almost 44% of the articles reviewed screened CNV regions possibly
linkedwith ADHD pathologic pathways, especially tometabotropic
glutamate receptor and genes related to others psychiatric disor-
ders, like PARK2 and SHANK3. The case control studies also indicate
some coexistence of rare and common forms ADHD. Nevertheless,
there is not a consensus about relations between CNVs in ADHD
samples and intellectual disability. Moreover, all articles suggest
a pleiotropic effect related to CNVs in ADHD patients and others
neuropsychiatric disorders.
Conclusion The relevance of CNVs in ADHD patients is clearly
supported by the current findings. However, further research is
necessary to analyse CNVs influence in IQ of ADHD individuals. In
addition, genotype association studies to clarify the pleiotropies
stated are required.