Case report
https://doi.org/10.21860/medflum2022_271164
Atypical localization and symptomatology of Klippel-Trenaunay-Weber syndrome: case report
Danijela Poslon
orcid.org/0000-0002-7581-1196
; Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Dorian Laslo
; Sveučilište Josipa Jurja Strossmayera u Osijeku, Medicinski fakultet, Osijek, Hrvatska
Maja Ploh
orcid.org/0000-0001-5070-3079
; Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska
Duška Petranović
; Sveučilište u Rijeci, Medicinski fakultet, Rijeka, Hrvatska; Klinički bolnički centar Rijeka, Klinika za internu medicinu, Rijeka, Hrvatska
Abstract
Aim: Klippel-Trenaunay-Weber syndrome is a rare congenital sporadic disorder which results in abnormal development of blood vessels, soft tissue and bones. The aim of this case report is to present a challenging course of diagnostics and treatment in patients with this rare disease, where skin hemangioma, otherwise present in 98%, was absent and disease occurred in the upper extremity, which was recorded in only 12,5% of cases. Case report: The first examination of a neonatologist in a female newborn showed painless swelling of the right arm and visible varicose veins on the right forearm and hand. The changes were permanent and with mild flexion restriction of elbow joint and right hand fingers. After seven years the pain appeared in the right arm and the echotomography of the forearm and hand muscles was done. The results showed broad veins and signs of arteriouvenous fistulas, after which the computed tomography with contrast and flebography were ordered. The presence of a structure of vascular etiology was confirmed, partially thrombosed, with slow flow. In the next six years simptoms advanced and surgical treatment was recommended. The patient has undergone varicosities extirpation. The pain persisted, therefore magnetic resonance and magnetic resonance angiography of the right arm were indicated and suspected of intramuscular hemangioma. Embolisation of vascular malformation was performed seven years later and there are plans for further surgical treatment. Conclusion: Klippel-Trenaunay syndrome may occur without cutaneous hemangioma, which is otherwise the most common clinical sign. Also, syndrome signs could atypically be found in the upper extremities.
Keywords
hemangioma; infant, newborn; Klippel-Trenaunay-Weber syndrome; phlebography
Hrčak ID:
271164
URI
Publication date:
1.3.2022.
Visits: 3.373 *