Cloves syndrome: a case report and perinatal diagnostic findings.

Summary: Cloves syndrome: a case report and perinatal diagnostic findings: We report a neonate with prenatal ultrasound imaging features suggestive of CLOVES syndrome, confirmed postnatally by clinical and imaging findings of the constellation of truncal overgrowth, cutaneous capillary malformations, lymphatic and musculoskeletal anomalies. The clinical, radiological and histopathological findings noted in our patient help differentiate from other overgrowth syndromes such as Proteus syndrome. We report perinatal findings and add new clinical findings of this rare syndrome.Key-words: Congenital lipomatous - Overgrowth syndrome - Epidermal nevus - Vascular anomalies - Musculoskeletal anomalies - Antenatal diagnosis__INTRODUCTIONCLOVE syndrome was first described by Sapp et al. (10) and is described as congenital lipomatous (CL) overgrowth (0), vascular malformations (V), epidermal nevi (E). Alomar (1) expanded the name of CLOVE to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies (1).The syndrome is characterized by four main clinical findings: truncal overgrowth, vascular anomalies, epidermal nevus and musculoskeletal anomalies, and skeletal/scoliosis/spinal abnormalities (S) (1, 10). There is only one reported case with a prenatal diagnosis (2). The case that we report showed not only the classic features of this rare syndrome, but also exhibited some of not previously reported fetal ultrasound features that may potentially help with this rare syndrome. We herein report the clinical, radiological and histopathological findings in a neonate with CLOVES syndrome with a review of the literature.CASE REPORTA 39-year-old Hispanic female G2P2 with a normal pregnancy, at 18 weeks' gestation a fetal ultrasound revealed a cystic hygroma malformation. A repeat ultrasound at the 35th week of gestation showed multiple anomalies. These included complex subcutaneous fluid collections with internal septations that involved the abdominal wall (Fig. 1). This was suggestive of a truncal lymphatic malformation. The cord vessels, head circumference and major abdominal viscera were normal. There was no polyhydramnios. Pregnancy was complicated with gestational diabetes.The male, large for gestational age (LGA) infant, was bom at 39 weeks of gestation via cesarean section delivery. Apgar scores were 8 and 9 at 1 and 5 minutes respectively.At birth, the patient weighed 5115 g (>90th centile) and his length was 52 cm (75th centile). The head circumference was 39 cm (>90th centile). Physical exam revealed a large, soft truncal mass (17cm x 21 cm) that involved the posterolateral aspect of the lower chest, abdomen and flank, which was partly covered by a large port wine stain capillary malformation (Fig. 2a). A soft mass (7x6 cm) was also noted over the right lower back. In addition, there was a firm midline abdominal mass extending to the left lower quadrant and bilateral undescended testes. Examination of the extremities showed overgrowth of both feet with macrodactyly of the first through fourth toes including overgrowth of soft tissues and underlying bones (Fig. 2b). The left arm was larger than the right arm.Magnetic resonance imaging studies of the thorax and abdomen at 4 days of life showed multiple subcutaneous fluid collections (Fig. 3a, 3b). Multiloculated fluid collections were identified in the subcutaneous tissues of the right postero-lateral chest wall, distal left humerus, supraumbilical region and lower anterior abdominal wall. The mass was noted to extend through the left paraspinal musculature into the left extra pleural space. There was a left-sided paraspinal mass extending from T1 to T9 with extension into numerous left-sided neuroforamina with mild epidural extension. The epidural extension caused mild central spinal stenosis but there was no evidence of cord compression. There was also a smaller right-sided paraspinal mass overlying the lumbar region with heterogeneous enhancement from approximately Tl to T4 and was intermingled with a large azygos vein. …