The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. Genetic testing revealed a mutation of the PEX6 (Peroxisomal Biogenesis Factor 6) gene, and the metabolic profile was consistent with the diagnosis. Particularly, the child also presented altered coagulation factors and developed a spontaneous brain hemorrhage. The clinical picture includes several neurological, ophthalmological, digestive, cutaneous, and endocrine disorders as a result of the very long chain fatty acid accumulation as well as secondary oxidative anomalies. The study of metabolic disorders occurring because of genetic mutations is a subject of core importance in the pathology of children today. The PEX mutations, difficult to identify antepartum, are linked to an array of cell anomalies with severe consequences on the patient’s status, afflicting multiple organs and systems. This is the reason for which our case history may be relevant, including a vast number of symptoms, as well as modified biological parameters.

BACKGROUND In Romania, as in other parts of the world, the family doctor is the first to make contact with the healthy patient and is also the first to notice even the smallest pathological changes. In the context of the SARS-CoV-2 pandemic, the patient's communication with the family doctor became even closer and some behavioral changes could be easily noticed. OBJECTIVE To assess the symptoms of anxiety and depression in the Romanian population using the social media platforms in the context of COVID-19 pandemic. METHODS We conducted an anonymous, web-based cross-sectional survey consisting of 31 questions related to general characteristics (age, gender, education, inhabitancy, residence, smoking status and alcohol consumption) and adapted GAD-7 (7-item General Anxiety Disorders questionnaire) and PHQ-9 (9-item Patient Health Questionnaire). This questionnaire was sent to the volunteers in an electronic format through a social network (Facebook, Twitter). The data collected was statistically processed using IBM SPSS v25.0. The inclusion criteria were age over 18 years and no history of chronic disease. The exclusion criteria consisted in the absence of mental illness diagnosis. RESULTS : From the 1254 respondents, 1232 cases were selected for statistical analysis after applying the exclusion criteria. The mean age was 35.94 (SD = 11.4, 95%CI=10.9-11.9) with the minimum of 18 years and the maximum of 97 years. 84.9% (N= 1046) from all study participants are female and 79.13% (N= 975) live in the urban area. 79.1%(N=974) of the respondents had higher education (university and above). 27.4% of the respondents are smokers, 62.9% drink alcohol at parties or on special occasions, while 4.1% have daily consumption. 188(15.25%) were diagnosed with COVID-19 from which, 31(16.66%) males and 157(15%) females. A percentage of 12.8% (N=158) was quarantined as close contact of a person who tested positive for the SARS-CoV2 infection. N=170 (13.8%) reported moderate symptoms of anxiety during the last 2 weeks before the survey while N=96 (7.8%) had severe anxiety. 22.2% (N=274) of the participants reported moderate symptoms of depression while 10.1% (N=125) had moderately severe symptoms and 6.6% (N=81) could be diagnosed with severe depression. A greater likelihood of screening for depression diagnosis was associated with the age between 25-34 years (OR=0.90, 95%CI=0.86-0.94, P<.001), 35-44 years (OR=0.88, 95%CI=0.84-0.93, P<.001) and 45-54 years (OR=0.87, 95%CI=0.82-0.92, P<.001). Also there was observed a tendency for women to be more prone to high levels of anxiety (OR=1.21, 95%CI=1.08-1.35, P< .001) and depression (OR=2.16, 95%CI=1.51-308, P< .005). CONCLUSIONS Regarding the high prevalence of depression and anxiety, especially in women, appropriate measures for the risk categories should be applied. In the new social context created by the Covid-19 pandemic, screening for psychiatric and psychological disorders should be performed by telemedicine. CLINICALTRIAL ISRCTN14652655