BS is supposed to have a strong genetic vulnerability and, although its pathogenesis is still not clear, it was associated with an alteration of the immune and inflammatory response. Soon after, Mr. XY underwent a genetic examination, showing a HLA-B51 carrier status (an allele associated with the presence of BS); moreover, a brain magnetic resonance imaging (MRI) highlighted a diffuse signal intensity alteration of the right cerebellar hemisphere. He was first prescribed glucocorticoids (often employed in the treatment of the acute involvement of the CNS in BS) and colchicine, an alkaloid with anti-inflammatory and immune-modulatory properties used with beneficial effects in different kinds of diseases, from BS from gout. It was also prescribed cyclosporine, an immunosuppressive agent that interferes with the transcription of several cytokines; however, cyclosporine intake was discontinued by Mr. XY in a few months because of gastrointestinal side effects. Since two years from the first diagnosis, he had started to show signs of neuromuscular damage (including tremors, muscle weakness with recurrent falls, dyspnea with reduced exercise tolerance, and evidence of restrictive ventilatory defect with no diffusion impairment). During 2009, he reported recurrent headaches, and as a consequence, a new brain MRI was performed, showing a cavernous angioma located in the right cerebellar hemisphere. Two years later, a further MRI showed a second cavernous angioma in the right ventromedial prefrontal cortex and a venous dysplasia in the right cerebellar hemisphere. A detailed psychiatric history was also obtained. Mr. XY was the first of four children. No family history of mental disorders was reported. He recounted himself as a child and adolescent with pronounced anxiety traits: when he was between four and nine years old, he was quite worried of being separated from his mother, showing a lack of independence in several contexts, such as sleeping, socializing, and attending school. During adolescence and early adulthood, he continued to be overly worried about his parents' sake and to suffer from anxiety symptoms, avoiding social contexts. He never enjoyed practicing sports and he remembers himself as having always been thin and weak. After high school, he started to work as a religion teacher. He had only one stable relationship, lasting about four years, with a woman nine years older than him; he had no children. He described himself as a quiet person, very introspective, and ruminative. Besides his job, he devoted himself to political interests, taking part in the council of the small town where he lived. He never smoked or used illicit drugs. About ten months before the current admission, Mr. XY was shocked by the sudden death of a member of the town council, 30 years older than him, whom the patient remembers as a close friend. Shortly after, he started to be very focused on diet, restricting food intake and selecting only low-calorie food. However, spontaneously, in a few weeks, he regained a normal eating behavior and sufficient social and work adjustment. Despite that, he continued to show intense rumination over his friend's death and started again to fear that some untoward events could happen to his parents. One month before the first psychiatric admission, Mr. XY showed another episode of food restriction, following the break up of his relationship with his girlfriend. He suddenly developed depressive mood, feelings of hopelessness, inner tension, outbursts of anger, and rumination with difficulties to fall asleep. Despite having several talks with his ex-girlfriend, he felt he could not understand the reasons why she broke up with him and started a calorie-restricted diet, feeling that taking control of his body shape could help him to boost his self-esteem and hopefully to bring back his ex-girlfriend. When he saw his rheumatologist, who had treated him for more than 10 years, he had lost about 8 kg in a month and his BMI was around 18.4, such that he was referred to the psychiatric team. He was admitted voluntarily to the psychiatric inpatient unit. On admission, Mr. XY appeared very skinny, moderately unkempt, and slow at movement. His eyes moved little, staring with a plane face at the clinician's eyes. His speech was slow and circumstantial; answers were given in monosyllables, with a monotone voice. He was strongly worried with his body weight and with food calorie content, completely refusing to eat, such that nasogastric feeding was needed.
Mr. XY was diagnosed as having a partial form of posttraumatic stress disorder (PTSD), a separation anxiety disorder, and AN. However, during his hospital stay, a peculiar social functioning was progressively observed. Mr. XY continued to show a staring gaze, approaching people in an awkward way, without showing social awareness, as if he disregarded other people's feelings. Even when talking about emotionally charged situations, he used a matter-of-fact tone. Despite stating that he was desperate, he appeared calm, being always complacent towards anyone. When asked about his feelings, he found it very hard to express them, rationalizing and intellectualizing his difficulties.
Taking into account these traits, which suggested autistic-like impairments in social communication and in socioemotional reciprocity, a deeper evaluation was conducted. First, Mr. XY's mother was asked to answer some questions, revealing that Mr. XY had been referred to a psychologist during elementary school for anxiety symptoms, but also because he used to be easily distracted by sounds and other stimuli during classes. Moreover, she reported that his classmates often picked on him for his social awkwardness and his overinvolvement in mechanical gadgets.
In addition, Mr. XY agreed to complete the short (14-Item) version of the Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R), a self-report screening questionnaire for ASD, retrieving a score of 11 (cut-off score 14); he fulfilled also the self-report Autism Spectrum Quotient (AQ) and the Adult Autism Subthreshold Spectrum (AdAS Spectrum), both providing a dimensional measure of autistic traits, reporting a score of 22 and 51, respectively. He also gave written informed consent for the publication of his case.
When discharging from the hospital, the initial diagnoses of partial PTSD, separation anxiety disorder, and AN were confirmed. However, the psychiatric team agreed that a subthreshold autism spectrum was also present and could have shaped the clinical picture of Mr. XY.