A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman
Patient: 57-year-old female\nChief complaint: Mental change and spasm\nCurrent medical history: Above 57-year-old female patient didn't have an unusual medical history in the past and visited a neurosurgical clinic in another hospital a month before visiting the hospital because she couldn't open both of her hands. With a consideration of Parkinson's disease, she was prescribed with levodopa and then the course was going to be observed in an outpatient clinic. However, the symptom became worse after she started taking levodopa and then she visited the outpatient clinic of the hospital again in a week. The course was going to be examined after stopping to take levodopa but the symptom seemed to get worse gradually even if she stopped taking levodopa. After 5 days, the patient visited an emergency room in the hospital and brain magnetic resonance (MR), brain computed tomography (CT), and C-spine MR were performed; since there was no special opinion with an exception of spinal stenosis, she was discharged from the hospital again. But, the symptom was still lasted; she had been found as tumbling and lying down on the floor a week before visiting the hospital. Since the patient still had the symptoms, she wanted to visit the other hospital. However, she had spasm and a mental change in a car while driving to the other hospital to visit. Then she visited an emergency room in our hospital; she showed low serum calcium, 5.3 mg/dL (reference: 8.2-10.2), in the blood test at that time so she was hospitalized in division of endocrinology and metabolism, department of internal medicine.\nMedical history in the past: The patient graduated an elementary school which was not well-educated. From the medical history in the past, no unusual medical history was found in the patient with an exception of taking antihypertensives due to the hypertension that was diagnosed 2 years ago.\nFamily history: There was no unusual disease or abnormality in the family history.\nPhysical examination: The patient was in lethargic at the time of visiting the hospital and showed hypocalcemic tetany in both hands with 144 cm of height and 42.6 kg of body weight. There was no noise detected when examining the heart with a stethoscope. Exophthalmos or goiter was not present but she had a high ached plate and a nasal voice. In the neurologic examination, the patient showed positive on Chvostek sign and Trousseau sign and had normal muscle strength.\nLaboratory test: The tests were performed at the time of visiting our hospital; serum calcium was 5.3 mg/dL (reference value: 8.2-10.2), phosphorus was 5.5 mg/dL (reference value: 2.7-4.5), magnesium was 1.8 mEq/L (reference value: 1.5-2.4), alkaline phosphatase was 89 U/L (reference value: 20-120). Serum parathyroid hormone and 25-OH-Vitamin D3 were 8 pg/mL (reference value: 11-62) and 2.1 ng/mL (reference value: 9.0-37.6), respectively. According to the bone mineral density test utilizing dual energy X-ray absorptiometry (iDXA; GE Healthcare, Madison, WI, USA), indicating that the patient seemed to have osteoporosis (). Since the patient was considered to have abdominal enlargement, abdominal computerized tomography was carried out and single kidney was observed in the patient (). In the thyroid ultrasonography, no unusual opinion was shown with an exception of thyroid nodule and thyroid hormone seemed to be normal. The patient had a problem with understanding what people said and showed decreased hearing in both ears from the audiometry as the patient appealed. According to Wechsler intelligence test, the intelligence score of the patient was 85 which were below the average and language development was particularly retarded. Since the patient had kidney anomaly, short height, hypocalcemia caused by hypoparathyroidism, decreased hearing, and the retardation of language development, CATCH22 syndrome was considered so that chromosome test was carried out; fluorescence in situ hybridization (FISH) was performed utilizing TUPLE1 probe in the DiGeorge/VCFS region. As a result of the analysis, we were able to confirm diagnosing that the patient had CATCH22 syndrome because the TUPLE1 probe signal that was normally present was not observed in one of the chromosome 22 (). After diagnosing CATCH22 syndrome, Lymphocyte T cell subset was carried out in order to evaluate immunity and the result showed that the patient had normal immunity.\nTreatment and course: The patient recovered her consciousness after taking vitamin D and calcium and the low calcium tetany improved. Currently, the patient takes oral vitamin D and calcium (calcitriol 0.5 µg, elemental calcium 800 mg) and the course is still examined. The patient responded well to the treatments and she is on follow-up by outpatient clinic in division of endocrinology and metabolism, department of internal medicine and genetics clinic.