Considering that vascular malformations represent a heterogeneous group of diseases that are often underdiagnosed, and that CLAPO syndrome may be misdiagnosed as infantile hemangiomas, the importance of early recognition of this rare condition is emphasized. This study aims to report a case of CLAPO syndrome in a pediatric patient, highlighting its clinical, diagnostic, and therapeutic aspects. To this end, a case report is presented of a 5-year-old male patient, followed longitudinally since birth, initially diagnosed with hemangioma and treated with propranolol, who was later reassessed through imaging studies, biopsy, and clinical follow-up. Thus, the presence of a capillary malformation of the lower lip associated with cervicofacial lymphatic malformations was observed, with diagnostic confirmation of CLAPO syndrome, in addition to a satisfactory clinical response to treatment with sirolimus combined with OK-432 sclerotherapy. This allows us to conclude that longitudinal clinical follow-up and the correlation between clinical and imaging findings are essential for accurate diagnosis, enabling appropriate therapeutic management and improved prognosis in patients with this condition.
Isabela Oliveira, Beatriz Minotti de Lima, Maria Paula Soares Godoy Bueno et al.· Revista de Estudos Interdisc...· 0 citations
The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.
Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al.· Neurology: Genetics· 0 citations
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