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Case No. 234
2011-01-19~2011-01-30
출제자 : 관리자
Hit : 536
| Period | 2011-01-19~2011-01-30 |
|---|---|
| Diagnosis | |
| Clinical information | F/23 C.C: seizure (1 MA) P/E: 136cm/45kg, flat nasal bridge, short neck |
| Discussion | Answer: Albright's Hereditary Osteodystrophy(AHO) (pseudohypoparathyroidism) 1. Autosomal dominant 2. Mutation in the gene encoding the ?-chain of G protein 꽨 Resistance to multiple hormones (PTH (pseudohypoparathyroidism type 1a), TSH, LH, FSH) 3. Characteristic developmental abnormalities: Short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and mental retardation 4. Brain CT/MRI: bilateral symmetric cerebral and cerebellar dentate nucleus calcifications Calcifications on MRI show various patterns Neuroradiology 1990; 32: 325-327 The Journal of Clinical Endocrinology and Metabolism 2003; 88: 4059-4069 |
| Correct answer |
Correct AnswerSemi-Correct Answer |