Artikel
Bilateral compartment of the hands in Prolidase deficiency syndrome: an unknown complication in a rare disease
Bilaterales Kompartment der Hände im Rahmen des Prolidasemangel Syndroms: ein unbekanntes Symptom einer seltenen Krankheit
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Autoren
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Raphael Tasar
- UKSH Lübeck, Lübeck, Germany
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Maximilian Hahn
- UKSH Lübeck, Lübeck, Germany
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Philipp Alexander Bergmann
- UKSH Lübeck, Lübeck, Germany
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Jan Philipp Neis
- UKSH Lübeck, Lübeck, Germany
| Veröffentlicht: | 27. August 2021 |
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Gliederung
Text
Objectives: We discuss four areas of controversy. First, what could be the reason for an atraumatic compartment syndrome in both hands?
Second, should we operate on a 3-year-old boy or use a conservative approach? Third, would we have chosen an operative approach knowing the underlying condition? Fourth, how should we proceed postoperatively?
Method: A 3-year-old boy presented with painful swelling and livid discoloration of both hands together with cold fingertips and a weak palpable pulse. The compartment pressures were measured with Stryker intracompartmental pressure monitoring system by the emergency physician and showed a compartment pressure on the thenar eminence of 59mmHg and on the dorsal hand of 50mmHg for both hands. Symptoms were correspondent to a bilateral compartment syndrome. The discoloration was also seen in both feet without swelling. The forehead showed a painless swelling (2x2cm) without discoloration, as well as hypertelorism of the eyes.
Results: We decided for an operative approach with palmar and dorsal compartment release by fasciotomy in both hands. In addition to the procedure, we released the carpal tunnel with neurolysis of the nervus medianus, the Guyon lodge and radically debrided the soft tissue. For primary soft tissue coverage, we used artificial skin coverage (EpiGARD). Time from admission to fasciotomy was 3 hours and 24 minutes.
Postoperative anamnesis revealed an exome investigation that was performed 2 years earlier, uncovering a homozygote sequence variation in the PEPD-gene, related to Prolidase - deficiency syndrome.
He was discharged after an uneventful recovery period at post-operative day 15.
Conclusion: This case summarizes a whole series of aspects in our everyday decision - making for pediatric patients undergoing hand surgery.
No curative treatment is available for Prolidase - deficiency syndrome. Few therapeutical concepts by enzyme replacement therapy are part of experimental studies and are not used in a clinical concept for the time being. The statistics based on the literature and his clinical presentation now predict that if not routinely examined carefully, he might suffer from even worse complications. Some known to literature and others that may still remain unknown.
