Glycogen storage disease type V
ICD-10 E74.0 · ICD-11 5C51.3.3

Glycogen Storage Disease Type V in Acute Compartment Syndrome with Relentless Limb Pain

Clinical Scenario

Patients with Glycogen storage disease type V can develop acute compartment syndrome (ACS) — an urgent limb-threatening complication. The clinical picture is dominated by relentless limb pain that is not relieved by rest, combined with signs including pallor, absence of pulse, paralysis, and paraesthesia.

Recognising the Presentation

ACS is a clinical diagnosis. The hallmark is persistent, unrelenting pain that does not ease with rest. The accompanying signs — pallor, absent peripheral pulse, paralysis, and paraesthesia — reflect the progressive vascular and neural compromise within the affected limb and confirm the urgency of the situation.

Treatment Approach

Management requires a prompt surgical intervention directed at the affected limb. Speed of diagnosis and intervention is a key determinant of outcome. The full structured regimen and decision criteria are available in the protocol below.

Instant Access to Structured Evidence-Based Regimens

References

DOI: 10.1016/j.nmd.2021.10.006 View source ↗