Literature Review and Case Report of Two Cloves Syndrome Patients Treated with Sclerotherapy

Purpose: Background: CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the phosphatidylinositol 3-kinase catalytic subunit α (PIK3CA) gene. It is part of the PIK3CA-related overgrowth syndrome (PROS) spectrum and its treatment is challenging. The truncal masses characteristic of CLOVES syndrome is described as vascular malformations or lipomatous lesions with variable vascular components. The cause of this disease is not well understood and fewer than 200 cases of CLOVES syndrome have been identified worldwide to date. Moreover, not all of the signs of this syndrome are present at birth. We present two cases of newborns with CLOVES Syndrome, one of them died due to hemodynamic complications directly related to extensive vascular malformations. We discuss their clinical presentation and literature review to understand the disease pattern better.

Materials and Methods: A single-institution retrospective review was performed for patients diagnosed with CLOVES syndrome. One case was treated with sclerotherapy. The outcome of sclerotherapy was determined by clinical examination, post-sclerotherapy ultrasonography and subjective feelings of the patient. Complications and follow-up duration (1.5 years) were also recorded.

Illustrative Cases Case 1: We present a case of an 18-month-old boy affected by CLOVES syndrome. He was born with C-Section at the 38th week of gestation with a prenatal diagnosis of extensive thoracoabdominal vascular /venous malformation. The lesion was first identified at 6 months of gestation and later on, it increased in size exponentially on a follow-up scan. Thus, an elective C-Section was planned. There is no significant family history of the mother, she has another child who has no medical illness. No documentation available regarding Apgar score at birth however baby was remained in the ICU for several days. He required advanced resuscitation and mechanical ventilation. The baby was referred to our department, physical examination at birth revealed large venous and lymphatic malformation involving the left thorax and abdominal region with bluish discoloration overlying hypertrophied growth. MRI and ultrasound of the chest and abdomen confirmed the presence of a large multiloculated mixed intensity lesion of size 6.1 × 2.8 × 10.2 cm with hemorrhage and free fluid along the lateral thorax and an abdominal wall extending from mid thorax to iliac region suggestive of the venous and large macrocytic type of lymphatic malformation with overlying capillary malformation. On the 18th day of his birth, he received his first sclerotherapy injection for embolization of lymphatic and venous malformation. The sclerosant was bleomycin foam which was prepared with human albumin 20% in equal amounts with air. The weight of the baby was 3 kg so the bleomycin foam dose was adjusted according to the weight of the baby. We gave 3 mL of bleomycin foam (0.5–1 mg/kg). After localization of the lesion with ultrasound, the venous outflow was confirmed and then test contrast injection was given under fluoroscopic guidance, and then 3 mL of bleomycin foam was injected. The procedure was done under sedation as the baby was only 18 days old. To monitor the response of scleroembolization we kept on close follow-ups. There was a significant decrease in the size of the lesion after the first session. The second session was planned 8 weeks after the first session and 5 mL of bleomycin foam was injected percutaneously with the same protocol in the residual lymphatic malformation compartment. After 3 months of the second session of scleroembolization, there was a total resolution of the lesion. Physical examination was unremarkable, there is slight pigmentation of skin at the previous site of lesion. A follow-up ultrasound was also done to confirm the total resolution of the lesion. We have been following up on this case for the past 1.5 years and there is no recurrence of the lesion. The child has no other illness or any other delayed milestones. Case 2 A 1-month-old baby girl was referred to our department at the Children's Hospital for assessment of a large lesion involving the right lateral chest, thorax and abdominal region. The mother belongs to a poor socioeconomic status and, hence did not seek any gynecological advice during pregnancy. The child was born with soft fluctuant swelling involving the right thorax and abdominal area with bluish and purplish discoloration (Nevi) of overlying skin. Within 1-month time, the swelling increased in size exponentially. She required advanced resuscitation and mechanical ventilation due to septic shock. From the Pediatric ICU, the case was referred for evaluation. An echocardiogram was done which was unremarkable. Ultrasonography was done which showed large cystic swelling and, a fatty component with mixed vascularity on the Doppler. MRI chest and abdomen showed complex soft tissue and cystic mass along the right anterolateral chest wall extending into the upper abdomen with internal fatty components. Post-contrast images showed enhancement of soft tissue components with venous channels suggestive of vascular malformation. We have planned percutaneous sclerotherapy for the patient on an immediate basis. However, due to the presence of this large chest vascular malformation, she developed progressive respiratory distress, oxygen requirement and fever. The child died at 30 days of life.

Results: Two pediatric patients were reviewed, accounting for 2 sclerotherapy sessions. One patient underwent two sclerotherapy sessions for large truncal vascular malformation with mass. The other case was only diagnosed with CLOVES syndrome. Both lesions were located on the upper chest, thorax and back or flank with various degrees of muscular involvement. We gave bleomycin foam according to the weight of the baby in the range of 3–5 mg per session. After two sessions of bleomycin foam sclerotherapy, the lesions were completely gone and the complete resolution of symptoms.

Conclusion: Sclerotherapy with bleomycin foam is a nonsurgical procedure that can help reduce the size of the vascular anomalies associated with CLOVES, as well as the pain they may cause.

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Artikel online veröffentlicht:
02. April 2024