S. Di Marco

Psychiatric disturbances in a patient with melas syndrome: A case report

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 myopathy. The clinical expression of MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes) is highly variable and ppsychiatric symptoms are rarely reported in literature 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 establishment 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 mmitochondrial 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.

A case of marchiafava bignami disease with frontal cortex involvement and late onset, long-lasting psychiatric symptoms

Aims To describe the case and management of a patient with marchiafava bignami disease (MBD) with frontal cortical lesions, no specific symptoms at first referral to the emergency room, and late onset of atypical psychiatric symptoms. Methods We report the case of a 44-year-old patient with a history of chronic alcohol abuse, eventually diagnosed with MBD. Results Magnetic resonance showed lesions in the splenium and in the body of corpus callosum and bilateral lesions of the frontal cortex. The patient showed late-onset atypical psychiatric symptoms, which were drug resistant. Conclusions The case we describe seems to support the existing few ones describing cortical involvement in MBD, which suggest that this is associated with a poorer prognosis. Psychiatric symptoms may be challenging to treat because of drug resistance. The involvement of psychiatrists together with neurologists and radiologists, with a consultation–liaison approach has proved important for the achievement of diagnosis and of the most appropriate management and treatment for this patient.