An 11-year-old girl visited our Emergency Department with fever, cough, abdominal pain and vomiting. Hypocalcemia (serum calcium, 5.0 mg/dL; ionized calcium, 0.74 mM) was noted on laboratory analysis, with normal albumin (4.3 mg/dL), and upper normal limit level of phosphorus (5.6 mg/dL).\nShe was born with 3,040 g of body weight at 37 weeks of pregnancy at our hospital and was the second child of phenotypically normal Korean parents. Imperforate anus with rectovestibular fistula and partial cleft palate were found at birth. Atrial septal defect (ASD, 3.5-mm width) was diagnosed on echocardiography performed on the first day of life. However, the karyotyping revealed normal chromosomal pattern by GTG banding. Descending colostomy was performed on the first day of life and followed by colostomy repair at 9 months of age. Pena operation (posterior sagittal anorectoplasty) was performed at 4 months of age and transposition anoplasty was done at 7 months of age. Palatoplasty for cleft palate was performed at 14 months of age, and again at 9 years of age, velopharyngeal insufficiency was surgically corrected by superiorly based pharyngeal flap with lateral port control. Echocardiography at 20 months of age showed no intracardiac anomaly, suggesting spontaneous closure of previously observed ASD. She had suffered from frequent respiratory tract infections with otitis media and chronic constipation, but there was no history of severe systemic infection. Her developmental milestones were delayed, and she was diagnosed for mild intellectual disability at 8 years of age (Intelligence quotient 57 on Korean Wechsler intelligence scale for children). She was attending a public school without specific behavioral problems, although her academic performance was poor.\nOn the third day of life, her calcium (9.2 mg/dL), phosphorus (4.5 mg/dL), and ionized calcium (1.05 mM/L) levels were normal. Her calcium level was also normal on preoperative screening before surgery at 4, 7, and 9 months of age (10.5, 10.8, and 10.6 mg/dL, respectively). Her calcium level was in low normal range on laboratory studies at 20 months and 7 years of age (9.1 and 8.9 mg/dL, respectively). The parents denied any history of hypocalcemic symptoms during her infancy or childhood.\nHer facial features appeared mildly dysmorphic, with hypertelorism, short philtrum and small down-turned mouth. Hypernasal speech was not observed. At the time of hypocalcemia onset at 11 years of age, her height was 141 cm (25th percentile) with weight 31 kg (10th–25th percentile). Her midparental height was 157 cm (10th–25th percentile). Her wrist X-ray showed bone age of 12 years without any evidence of rickets. Serum magnesium level was normal (1.63 mg/dL). The parathyroid hormone (PTH) level was inappropriately low (10.8 pg/mL; reference rage, 15–65 pg/mL) considering her plasma calcium level, suggesting hypocalcemia due to hypoparathyroidism. Serum 25(OH)D level was also decreased (11.4 ng/mL; reference range, 30–100 mg/mL). Her thyroid function was normal (thyroid-stimulating hormone, 0.28 uIU/mL; free T4, 1.68 pg/mL).\nIntravenous calcium (calcium gluconate, 100 mg/kg) was given during the first 3 days after admission, followed by oral calcium (calcium lactate, 300 mg/kg/day). Vitamin D (calcitriol, 0.75 µg/day) treatment was started on the 2nd hospital day. She was discharged on the 6th hospital day when her calcium level was 6.5 mg/dL. Her calcium level increased to 8.3 mg/dL on follow-up visit at 1 week after discharge, and her PTH level was still low (9.0 pg/mL). Although 25(OH)D level has been normalized (25.5 and 30.5 ng/mL after 2 months and 3 months, respectively) after treatment, daily administration of calcium (calcium carbonate, 62.5 mg/kg/day) and calcitriol (0.5 µg/day) was required to maintain normocalcemia (serum calcium 9.2 and 8.3 mg/dL after 2 and 3 months, respectively).\n22q11DS was suspected based on her history of velopharyngeal insufficiency and mental retardation, and fluorescence in situ hybridization analysis confirmed a deletion of chromosome 22q11.2 ().
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).