Table 1 Baseline investigation of a patient with KFS presented with hypoalgesia and hypocalcemia-induced vision loss
From: Transient binocular vision loss and pain insensitivity in Klippel–Feil syndrome: a case report
Serial No. | Test | Results (with normal range) |
|---|---|---|
1 | Complete blood count | Hb 10.6—microcytic hypochromic Hb electrophoresis was suggestive of thalassemia trait HbA 94%; HbA2 4.7%; HbF 1.1% |
2 | Renal function tests | Normal |
3 | Liver function tests | Normal |
4 | Serum electrolytes | Normal |
5 | Urine routine exam | Normal |
6 | Total calcium | 6.8 mg/dl (8.5–10.2 mg/dl) |
7 | Vitamin D | 8.56 ng/mL (> 20 ng/mL) |
8 | Serum PTH | 70.9 pg/mL (16–70 pg/mL) |
9 | Vitamin B12 | Normal |
10 | Testosterone | 2.5 ng/dl (10–90 ng/dl) |
11 | LH/FSH | 3.56/1.63 IU/ml (pre-puberty, 0–4 IU/ml) |
12 | Thyroid-stimulating hormone | 2.14 mIU/l (0.2–4.5 mIU/l) |
13 | Serum estradiol | 11.80 pg/ml (pre-puberty, 1.6–2.6 pg/ml) |
14 | CSF pressure | 10 cm of H2O (7–18 cm of H2O) |
15 | Echo | Normal |
16 | Ultrasound abdomen/pelvis | Normal |
17 | MRI brain with MRV | Unremarkable |
18 | MRI cervical spine | Hemi-vertebrae at the C4–C5 and D6 levels. The C7, D1, and D2 levels showed hemivertebrae along with partial fusion posteriorly. Also, double cord with no evidence of bony spur/fibrous septa at C6 level with partial defect in left vertebral lamina |
19 | MRI lumbar spine | MRI of lumbar spine was consistent with spina bifida occulta at the S1–S3 level with tethered cord |