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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.

http://dx.doi.org/10.1016/j.eurpsy.2016.01.1697

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.

http://dx.doi.org/10.1016/j.eurpsy.2016.01.1698

EV714

Psychiatric disturbances in a patient

with melas syndrome: A case report

M.C. Rizza

1 ,

, S . D

i Marco

1 , C. D

elicato

1 , C. V

ecchi

1 ,

C. Gramaglia

1 , P. P

rosperini

2 , R. C

antello

1 , P. Z

eppegno

1

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.

http://dx.doi.org/10.1016/j.eurpsy.2016.01.1699

EV715

Implications of DNA copy number

variations in

attention-deficit/hyperactivity

disorder: An update review

M.E. Palmeira

1 ,

, L.B. De Mesquita Gouveia

2

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.