Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review
Abstract
:1. Introduction
2. Case Report
3. Discussion
3.1. Clinical Features
3.2. Pathogenesis
3.3. Treatment
3.4. Life Expectancy, Complications, Mortality
4. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
References
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Laboratory Test | Reference Value | Patient Data | Laboratory Test | Reference Value | Patient Data |
---|---|---|---|---|---|
Calcium | 4.61–5.17 mg/dL | 4.98 | CA 15-3 | 0–32.4 U/mL | 12.4 |
Magnesium | 1.6–2.5 mg/dL | 1.94 | CA 19-9 | 0–30.9 IU/mL | 7.29 |
PTH | 15–65 pg/mL | 18.22 | CEA | 0–2.5 ng/mL | <0.01 |
Procalcitonin | 0.05–0.5 ng/mL | <0.12 | CA 125 | 1.9–16.3 U/mL | 11.3 |
25-hydroxy vitamin D | 30–100 ng/mL | 15.4 | CK-MB | 0–24 U/L | 8.92 |
β−CTX | ≤0.573 ng/mL | 0.68 | Rheumatoid factor | <14 IU/mL | 6 |
BSAP | 3–19 μg/L | 11.6 | Antithyroglobulin antibody | ≤115 IU/mL | 13.58 |
Osteocalcin | 11–43 ng/mL | 13 | Anti-dsDNA antibody | <100 IU/mL | <10 |
Alkaline phosphatase | 204.59 U/L | 0–800 U/L | Antinuclear antibody | <1/80 | <1/80 |
Fibrinogen | 200–400 mg/dL | 527 mg/dl | CIC | <20 RU/mL | 5.404 |
ESR | 2–20 mm/hour | 80 | ACE | 12–68 U/L | 45 |
CRP | 0.1–4.1 mg/L | 61.8 | CAL | <9.82 pg/mL | 0.528 |
Time | Surgical Treatment |
---|---|
Month I | C7 corpectomy and reconstruction with autologous graft from the iliac crest, macroscopic resection of the posterior arches C7-T1 and fixation with C4-C5-T3-T4 cervico-thoracic hybrid system |
Month III | Ablation of osteosynthesis material and bone graft and T1 corpectomy, reconstruction with C6-T1 mesh fixed with proximal and distal screw |
Month IX | Ablation of damaged osteosynthesis material mesh C6-T1, ablation of thoracic screws, and introduction of bilateral T3, T4, and T5 screws |
Time | Neurological Deficits | Neuromotor Recovery Treatment |
---|---|---|
Month IV | Lower limb motor deficit (MRC 1/5 proximal and 0/5 distal), bilateral pyramidal syndrome (elastic hypertonia Ashworth 3, brisk DTR, absent SAR, positive Babinski sign bilateral, left Achilles tendon clonus), and inability to walk, but possible orthostatism for a short time with assisted support | physiotherapy, massage, kinetotherapy, pentoxifylline, gabapentin, baclofen, alfacalcidol, vitamin D and calcium supplements |
Month VII | ||
Month XII | Lower limb motor deficit (MRC 1/5 proximal and 0/5 distal), bilateral pyramidal syndrome (elastic hypertonia Ashworth 3, brisk DTR, absent SAR, positive Babinski sign bilateral, left Achilles tendon clonus), and inability to stand and walk |
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Momanu, A.; Caba, L.; Gorduza, N.C.; Arhire, O.E.; Popa, A.D.; Ianole, V.; Gorduza, E.V. Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review. Medicina 2021, 57, 681. https://doi.org/10.3390/medicina57070681
Momanu A, Caba L, Gorduza NC, Arhire OE, Popa AD, Ianole V, Gorduza EV. Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review. Medicina. 2021; 57(7):681. https://doi.org/10.3390/medicina57070681
Chicago/Turabian StyleMomanu, Alina, Lavinia Caba, Nicoleta Carmen Gorduza, Oana Elena Arhire, Alina Delia Popa, Victor Ianole, and Eusebiu Vlad Gorduza. 2021. "Gorham-Stout Disease with Multiple Bone Involvement—Challenging Diagnosis of a Rare Disease and Literature Review" Medicina 57, no. 7: 681. https://doi.org/10.3390/medicina57070681