Rediscovering the Physical Exam

An Infant with PELVIS (Perineal Hemangioma, External Genital Malformations, Lipomyelomeningocele, Vesicorenal Abnormalities, Imperforate Anus, and Skin Tag) Syndrome Misdiagnosed as Diaper Rash

Cutaneous hemangiomas are the most frequent benign tumors in children. When they affect the lumbar and perineal area some cases can be associated with an occult spinal dysraphism. The management of these hemangiomas lack consensus. We report 3 cases of children with lumbosacral and perineal hemangiomas with magnetic resonance image abnormalities and we review the literature to find out the type and timing of tests that should be performed to complete the study in these patients. Ultrasound is typically requested as young as possible, as this imaging technique is not possible 11 the posterior spinal elements have ossified. MRI is the gold standard for diagnosing occult spinal dysraphism. According to the literature, the mean age for MRI screening should be around 6 months, when the fat formation in the filum terminale is expanded. In our opinion, an MRI scan should be performed at 6 months of age in every children with lumbar or perineal hemangioma regardless the lesion size, neurological symptoms or the ultrasound results.

Los hemangiomas infantiles son los tumores benignos más frecuentes en la población pediátrica. Cuando afectan al área lumbar y perineal, algunos casos pueden asociarse a alguna malformación subyacente como una disrafia espinal oculta. El manejo de estos hemangiomas carece de consenso. Describimos 3 casos de niños con hemangiomas lumbosacros y perineales con anomalías en la resonancia magnética y revisamos la literatura para valorar qué pruebas y en qué momento se deben realizar para completar el estudio en estos pacientes. Por lo general, se solicita una ecografía lo más precozmente posible, ya que esta técnica no es posible realizarla una vez que los elementos espinales posteriores se han osificado, lo que generalmente ocurre a los 6 meses de edad. La resonancia magnética es la prueba de referencia para diagnosticar una disrafia espinal oculta. De acuerdo con la literatura, la edad media para este examen debe ser alrededor de los 6 meses, cuando la formación de grasa en el filum terminale se ha visto incrementada. En nuestra opinión, se debería realizar una resonancia magnética a los 6 meses de edad en todos los niños con hemangioma lumbar o perineal, independientemente del tamaño de la lesión, la ausencia de síntomas neurológicos o los resultados de la ecografía.

Perineal hemangiomas rarely occur in patients with anorectal malformations (ARMs), but they can pose a significant challenge and warrant special attention. Surgical incision of posterior sagittal anorectoplasty (PSARP) may involve the hemangioma site resulting in hemorrhage, damage to blood supply, leading to complications and adversely affecting outcome. The aim of this study was to review the experience of the ARM-Net Consortium in the management of perineal hemangioma associated with ARM and evaluate treatment strategies.

Data on all patients with ARM and a perineal hemangioma located in the planes of the PSARP dissection who were managed at participating ARM-Net centers were collected retrospectively by questionnaire, as follows: ARM type, hemangioma distribution and penetration, imaging findings, medical/surgical management, timing of definitive repair, complications and outcome.

Ten patients from eight centers were included. Three patients each had a rectobulbar or rectovestibular fistula, 2 had a rectoperineal fistula, and one had a rectoprostatic fistula; in one patient, the hemangioma was too disfiguring to determine malformation type. Mean follow-up time was 36.6 months (median 29 months). Colostomies were performed before definitive repair in 8 patients. Five patients received systemic beta-blockers before PSARP: 3 were operated uneventfully following partial/complete involution of the hemangioma, and 2 are awaiting surgery. The two patients with rectoperineal fistula were managed expectantly. The remaining 3 patients underwent surgery with no preoperative medical treatment, and all had complications: mislocated neoanus in three and complete perineal dehiscence in one.

Attempting PSARP in the presence of a perineal hemangioma may lead to complications and adversely affect outcome. This study confirms the benefits of beta blocker treatment before surgical reconstruction.

Treatment study, level III.