Table 1.
Primary and secondary signs of BBS in this patient
| Age of onset | Clinical information | Intervention | |
|---|---|---|---|
| Primary signs | |||
| Rod-cone dystrophy | 8 Years old | Visual acuities: 0.01 (right), 0.04 (left), (with mild myopia and astigmatism) | No medication |
|
Fundus finding: binocular diffuse retinal degeneration Visual field: centipede constriction (binocular) Optical coherence tomography: binocular diffuse thinning of outer retinal layer ( + ), macular atrophy ( + ), macular edema ( − ), cystic changes ( − ), elipsoid zone ( − ) Fundus autofluorescence: binocular mottled pattern ( + ), perifoveal ring ( − ) |
|||
| Polydactyly | At birth | Both feet | Plastic surgery (19 months old) |
| Obesity | 9 Years old |
Height: 164 cm Weight: 78.1 kg Body mass index (BMI): 29 kg/m2 |
No medication |
| Hypogonadism | Testosterone: 300–600 ng/dl | No medication | |
| Renal anomalies | 1 Week old |
Cystic kidney Creatinine: 1.79 mg/dl BUN: 21 mg/dl eGFR cre: 37.2 mL/min/1.73 m2 |
No medication |
| Mental retardation | No | - | - |
| Secondary signs | |||
| Hirschsprung disease | 3 Months old | - | Surgery (28 months old) |
| Abnormal glucose tolerance | 9 Years old |
HbA1c: 5.6%, 75 g oral glucose tolerance test: 82 mg/dL at 0 h, 185 mg/dL at 2 h |
No medication |
| Exotropia | NA | - | Bilateral lateral rectus muscle recession (14 years old) |
| Hypertension | 27 Years old | Blood pressure = 145/83 mm Hg | Oral medicine (Azilsartan 20 mg and Amlodipine besilate 3.47 mg per day) |
| Cataract | NA | Binocular anterior sub-capsular cataract | - |
| Heart diseases | No | - | - |
| Liver fibrosis | No | - | - |