Publications (2)2.44 Total impact
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Article: MELAS syndrome mimicking somatoform disorder
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ABSTRACT: BackgroundMitochondrial disorders are underdiagnosed and the variable symptomatology, which is not always explained by the medical test results and often includes mental symptoms, can mimic somatoform disorder. MethodCase report of a woman with multisystemic symptomatology arising from mitochondrial dysfunction diagnosed as somatoform disorder, which impaired her eligibility for incapacity benefit. ResultLongitudinal follow-up, the synthesis of clinical symptoms, and laboratory data of the reported case suggested mitochondrial disease. Genetic testing proved the presence of the A3243G base substitution, the most common mutation of the mitochondrial DNA, presenting as MELAS (mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) syndrome. ConclusionThe authors wish to demonstrate the importance of multidisciplinary approach in the diagnostic process when symptoms of somatoform disorder are present. KeywordsMitochondrial Diseases–MELAS Syndrome–Somatoform Disorders–Disability EvaluationCentral European Journal of Medicine 04/2012; 6(6):758-761. · 0.31 Impact Factor -
Article: Psychiatric symptoms of patients with primary mitochondrial DNA disorders.
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ABSTRACT: The aim of our study was to assess psychiatric symptoms in patients with genetically proven primary mutation of the mitochondrial DNA. 19 adults with known mitochondrial mutation (MT) have been assessed with the Stanford Health Assessment Questionnaire 20-item Disability Index (HAQ-DI), the Symptom Check List-90-Revised (SCL-90-R), the Beck Depression Inventory-Short Form (BDI-SF), the Hamilton Depression Rating Scale (HDRS) and the clinical version of the Structured Clinical Interview for the the DSM-IV (SCID-I and SCID-II) As control, 10 patients with hereditary sensorimotor neuropathy (HN), harboring the peripheral myelin protein-22 (PMP22) mutation were examined with the same tools. The two groups did not differ significantly in gender, age or education. Mean HAQ-DI score was 0.82 in the MT (range: 0-1.625) and 0.71 in the HN group (range: 0-1.625). Level of disability between the two groups did not differ significantly (p = 0.6076). MT patients scored significantly higher on the BDI-SF and HDRS than HN patients (12.85 versus 4.40, p = 0.031, and 15.62 vs 7.30, p = 0.043, respectively). The Global Severity Index (GSI) of SCL-90-R also showed significant difference (1.44 vs 0.46, p = 0.013) as well as the subscales except for somatization. SCID-I interview yielded a variety of mood disorders in both groups. Eight MT patient (42%) had past, 6 (31%) had current, 5 (26%) had both past and current psychiatric diagnosis, yielding a lifetime prevalence of 9/19 (47%) in the MT group. In the HN group, 3 patients had both past and current diagnosis showing a lifetime prevalence of 3/10 (30%) in this group. SCID-II detected personality disorder in 8 MT cases (42%), yielding 3 avoidant, 2 obsessive-compulsive and 3 personality disorder not otherwise specified (NOS) diagnosis. No personality disorder was identified in the HN group. Clinicians should be aware of the high prevalence of psychiatric symptoms in patients with mitochondrial mutation which has both etiologic and therapeutic relevance.Behavioral and Brain Functions 02/2012; 8:9. · 2.13 Impact Factor