A 51-year-old man was admitted to our university hospital in September 2016 with panic attacks, dyspnea and chronic obstructive pulmonary disease (COPD) grade IV. During panic attacks, the patient experienced a feeling of heart-race (but heart frequency remained below 100/min), cramps in the upper extremities and fear of death. In addition, the patient suffered from chronic abdominal pain (over all quadrants). Therefore, he had previously been admitted many times to hospitals near his hometown at medical and surgical departments. Since no organic causes for the symptoms were identified, the patient was referred to a local psychiatric department where he was admitted as an inpatient seven times between 2014 and 2016. The patient increasingly developed subtle memory and concentration deficits, depressed mood, and ruminations, predominantly about his deteriorating health. Because he relinquished hopes of recovery from abdominal pain, for the first time in his life in 2016, he made a suicide attempt by taking an unknown amount of trazodone and triazolam tablets. He was discharged from the psychiatric ward of the community hospital after stabilization of acute suicidal thoughts 1 week before being admitted to our hospital.\nIn the initial psychiatric examination, perception, memory and concentration were reduced. The thought flow was reduced, he exhibited depressed mood and ruminations, the patient felt sick, hopeless, and had increased feelings of guilt (mainly for seeking help from his family during panic attacks). His affect was reduced, there was inner tension with concomitant low levels of energy and increased motor activity. His mood deteriorated during the day with ruminating thoughts during the evenings and nights. Consequently, he had difficulties falling asleep, sleeping through the night, decreased total sleep time, early morning awakening and fatigue during the day. Occasionally, he exhibited anxiety, with a feeling of rapid heartbeat, panic and fear of death. These panic attacks were sometimes associated with dyspnea. The psychiatric examination was otherwise normal. In particular, there was no suicidal ideation or suicidality. Hence, a diagnosis of panic disorder with comorbid major depression (MD) with a current severe episode was made.\nThe patient was unemployed, had previously worked as a waiter and lived alone in a small town (<5000 inhabitants). He had no current partner or children. The patient was supported by the department’s social worker. He maintained social contact with his sister and two brothers, all of whom were psychiatrically healthy and highly functioning. The patient was described as a life-time worry-child by his sister. She also described a single short psychotic episode in 2013 with delusions of grandiosity.\nNeurocognitive testing (carried out after improvement of the severe depressive episode) showed crystallized intelligence at an average, fluid intelligence at low average level (Multiple Choice Vocabulary Intelligence Test, MWT-B: 94; Basic Intelligence Functions, IBF, IQ: 82), there were no clinical signs of rapid onset dementia. An electroencephalogram (EEG) exhibited scattered theta waves over all leads, cranial magnetic resonance imaging (MRI) was not tolerated by the patient due to claustrophobic reactions.\nOn admission, the daily psychopharmacological therapy consisted of olanzapine 10 mg and trazodone 150 mg. At our hospital, sertraline was established as an antidepressant and anti-anxiety medication and dosed up to 250 mg. Serum concentration of sertraline was 50 ng/ml at 250 mg p.o.q.d. (reference value: 10–150 ng/ml at 250 mg). Due to better augmentative and side-effect profiles, olanzapine was changed to amisulpride and left at 50 mg at night. As additional anti-anxiety therapy, pregabaline was slowly titrated to 300 mg, thereby taking advantage of low potential of respiratory depression. With this combinatory antidepressant and anti-anxiety treatment, the patient achieved marked improvement of mood within 4 weeks. Anxiety and inner tension levels dropped, there were no further panic attacks during the stay in hospital.\nAdditionally, the patient was treated in psychotherapeutic groups at our ward but participation in physiotherapy and occupational therapy was poor. His favorite pastime at our ward was playing cards on his laptop. A successful relocation to a nursing home in Vienna was initiated by the social worker team.\nIn the initial medical examination, the patient weighed 80 kg at 179 cm, had mild edema in both legs, noisy breathing (mild wheezing) and reported diffuse but severe abdominal pain that had started 6 months ago. Previously performed examinations (gastroscopy, coloscopy, X‑ray) did not find a somatic cause for the pain. Thus, psychogenic causes were assumed. The patient reported moderate amounts of alcohol consumption and smoked approximately 20 cigarettes a day (23 pack years). Penicillin and contrast agent allergies were known. All other examinations were normal.\nThe patient had a medical history of heart surgery for septal defect at 6 years of age (6), correction of polydactyly (two additional thumbs, age 6 years), appendectomy (8 years), polypectomy in the nose (10 years) and colon (51 years) were diagnosed and treated.\nA 12-lead electrocardiogram (ECG) after admission was normal. Blood laboratory tests showed combined hypercholesterolemia (triglycerides [TG] 81 mg/dl, cholinesterase [CHE] 334 mg/dl, low-density lipoprotein [LDL] 249.89 mg/dl, slightly elevated liver enzymes, gamma-glutamyl transferase [GGT] 103 U/l, glutamic-pyruvic transaminase [GPT] 55 U/l) were not reproducible by further testing. Creatine kinase (CK) was moderately elevated throughout the hospital stay (190–362 U/l), whereby psychogenic muscular tension was considered as the most likely reason. Arterial blood gases (pCO2: 51.4%, pO2: 50.6%, pH 7.4) in combination with obstructive breathing, severely reduced forced expiratory volume in 1 s (FEV1) (17%) and moderate vascular shadows in chest X‑rays confirmed previously known COPD. Cardiac sonography showed a pronounced septal shift with inspiratory left-sided shift, a borderline right ventricular function and elevated pulmonary artery pressure (36 mm Hg).\nFurther internal medical consultations recommended gastroscopy whereby an antrum gastritis, duodenitis with several small ulcerous lesions and a reflux esophagitis were diagnosed and treated with pantoprazole 80 mg/day. Further radiological testing, e.g. computed tomography-angiography (CTA) with contrast agent and cortisone treatment (allergy) was performed for suspected abdominal claudication. The examination demonstrated high-grade obstruction of the celiac artery but with good collateral arteries and no signs of reduced perfusion of abdominal organs. Obstruction was confirmed with abdominal duplex sonography, whereby reduced flow profiles in the splenic artery and common hepatic artery were demonstrated. Additionally, in the CT, renal cysts in both kidneys in part hemorrhagic were found. A possible stenosis of the ligamentum arcuatum was evaluated with MR angiography (MRA), but due to phobic reactions and lack of compliance during breathing provocation, two attempts did not yield sufficient data for full evaluation of stenosis of the ligamentum arcuatum. After frequent consultations with abdominal surgeons, gastroenterologists and interventional radiologists, explorative surgery was not performed and a conservative approach was chosen. The abdominal pain significantly decreased after initiating antidepressive and anti-anxiety treatment with sertraline and pregabaline. Treatment of gastritis with adequate proton pump inhibitor dosage may also have contributed to improvement of pain. In a telephone call 3 months after discharge, the patient stated he was pain-free.\nDue to early onset heart septum defect, polydactyly, slightly reduced cognitive performance, mild microcephaly and facial abnormities as well as psychiatric diagnoses, a geneticist was consulted. A microarray of genomic DNA with SNP Array Cytoscan HD (Affymetrix, Santa Clara, CA, USA) was performed and a 3.2 Mb deletion in region 22q11.21 was detected. This microdeletion was confirmed by molecular cytogenetics (with HIRA 22q11 Kreatech FISH probes, Leica Biosystems, Wetzlar, Germany).
A 26-year-old Thai man without underlying disease came to emergency unit because of carpopedal spasm for 4 hours. He also reported numbness and tingling at perioral area and muscle cramps in both legs. The patient's history of birth and development was normal, and he had been previously healthy. He had no history of recurrent infection or cardiac disease. He had attended 6 years of elementary school, and is working as an unskilled laborer. He did not drink alcohol or use illicit drugs. There was unremarkable family history.\nOn examination, the patient was alert. His height was 153 cm (<3rd centile) and his weight was 65 kg (body mass index =27.77 kg/m2). His blood pressure was 100/60 mm Hg and pulse was 80 beats per minute. He had bilaterally carpopedal spasm and positive Chvostek's sign. Cardiac, chest, and abdominal examinations were unremarkable. He had no subcapsular cataract. Laboratory investigations showed hypocalcemia with calcium level of 1.5 mmol/L (normal range, 2.2–2.53 mmol/L), ionized calcium level of 0.7 mmol/L (normal range, 1.09–1.3 mmol/L), and hyperphosphatemia with phosphate level of 1.68 mmol/L (normal range, 1.07–1.49 mmol/L). Serum PTH level of 24.2 pg/mL (normal range, 15–65 pg/mL) was inappropriately normal during severe hypocalcemia. Serum magnesium and creatinine level were normal. Complete blood count and other biochemistry tests were also within normal limit. According to laboratory findings, hypocalcemia secondary to hypoparathyroidism was diagnosed. His electrocardiogram revealed prolonged QT interval with corrected QT interval of 473 msec (normal < 450 msec in male) and no ST-T change. Intravenous infusion of 10% calcium gluconate with bolus dose and continuous rate of 1 mg of elemental calcium/kg/hr was administered with concomitant oral calcium and vitamin D analogues.\nTo search for the cause of hypoparathyroidism, he had no history of neck surgery or irradiation. Morning serum cortisol level, thyroid function test, and hemoglobin A1C were normal, polyglandular autoimmune syndrome is less likely. At first presentation, we did not recognize any dysmorphic features. However, minor facial abnormalities were detected by meticulous examination. He had a prominent forehead, hypertelorism, hooded eyelids, ear microtia, low set ear, thick and overfolded ear helix, left external auditory canal stenosis, broad nasal bridge, and prominent lips (). His intelligence quotient or IQ by Wechscler Adult Intelligence Scale was 69, which categorized as mild mental retardation. Primary hypoparathyroidism along with dysmorphic face and mild mental retardation lead to suspicion of chromosome 22q11.2 deletion syndrome in this patient. Conventional chromosome analysis using the standard G band procedure showed a normal male karyotype. Subsequently, Array Comparative Genomic Hybridization (CGH) analysis was performed using Agilent custom-designed 44 K oligonucleotide array. The array contains more than 41,000 oligonucleotide probes and has both genome-wide coverage and dense coverage in regions of known microdeletion/duplication syndromes, subtelomeric and pericentromeric regions (Genzyme Genetics, Monrovia, CA). The CGH array showed a copy loss of 192 oligonucleotide probes in the region of 22q11.2 (genomic coordinates 17289032–19687983), with an estimated size of approximately 2.40–3.14 Mb at 22q11.21 region. The 22q11.2 deletion was confirmed by a fluorescent in situ hybridization (FISH), using the HIRA probe (Abbott Molecular). The deleted region contains approximately 34 OMIM genes. Further investigations included transthoracic echocardiography, renal ultrasonography, and dental examination were all normal. Audiography showed bilateral conductive hearing loss. CT brain found bilateral basal ganglion calcification. Finally, he was diagnosed with chromosome 22q11.2 deletion syndrome (microdeletion). Genetic counseling was informed to him and his family. He was discharged from the hospital with 1,000 mg elemental calcium as calcium carbonate and 0.25 μg alfacalcidiol twice daily. The serum calcium level was maintained in lower normal range to prevent hypercalciuria. During subsequent follow-up, the patient did not have any recurrence of hypocalcemic symptom.