Lamellar Sclerectomy with Sclerostomy for Choroidal Hemangioma in Sturge-Weber Syndrome: A Case Report

Sturge-Weber syndrome (SWS) is a rare phakomatoses without any hereditary predisposition. The choroidal hemangioma and glaucoma are frequently present on the same side as facial nevus flammeus. We report a case of choroidal hemangioma with glaucoma not responding to medical therapy and managed with four quadrants lamellar sclerectomy with sclerostomy.

Sturge-Weber syndrome: Clinico-neuroradiological features and treatment profile

Introduction: Sturge Weber syndrome (SWS) is a rare, nonhereditary genetic disorder. SWS belongs to a diverse group of Neurocutaneous disorders. A somatic mutation in the early development of cells in SWS patients causes the formation of a congenital capillary vascular malformation. SWS is characterized by nevus flammeus on the face (also called Port-Wine Birthmark), brain (leptomeningeal angioma), and eyes (glaucoma). Methods and Materials: We present three patients diagnosed with Sturge Weber syndrome who attended a teaching hospital between 2013 to 2016. The clinical, neuroradiological features and treatment of SWS patients were reviewed retrospectively from medical records. Results: Two males and females with SWS were reviewed. The facial nevus flammeus was unilateral in one patient and bilateral in two patients. The extensive nevus flammeus including the face, trunk, and upper limb was found in one patient. Epilepsy, neurodevelopmental delay, and intellectual disability were the most common presentation in the series. Episodic hemiparesis was manifested in one patient. Levetiracetam and oxcarbazepine, either single or combined, were used in every SWS patient (n=3). Six months seizure-free was obtained in a patient with SWS with combined anticonvulsant therapy. Conclusion: Drug-refractory and early-age epilepsy is associated with lower intelligence level that consequently affects poor social skill and quality of life in the patients with SWS. Sudden or gradual loss of vision is also a threat for SWS patients. Diagnosis at birth or during early age, multidisciplinary intervention, and follow-up is a must to improve absolute outcomes in the patients with SWS.

Sturge-Weber syndrome coexisting with polydactyly: a case report

Background Sturge-Weber syndrome (SWS) is a sporadic congenital disorder, characterized by unilateral facial nevus flammeus associated with ipsilateral glaucoma, choroidal angioma and leptomeningeal hemangiomas. SWS can comorbid with other disorders in some patients, however, there has been no prior described case of SWS and polydactyly occurring in the same patient. Case presentation A 15-year-old girl with diagnosis of SWS presented to our hospital. She had bilateral glaucoma and extensive port-wine stains distributing in bilateral faces, left neck and left upper limb. Meanwhile, the patient was noted to demonstrate the superfluous digit attaching on the left thumb and was diagnosed as polydactyly. Trabeculectomy, with intraoperative application of mitomycin C and postoperative subconjunctival injections of 5-fluorouracil, was successful in controlling the intraocular pressure in both eyes. Conclusions We report a case with bilateral SWS coexisting with unilateral polydactyly, which, to our knowledge, has not been recognized previously and adds further evidence to the existing literature. In view of the rare concurrence of SWS and polydactyly, the etiology is unclear and further investigation is required to explore the underlying pathogenesis.

Multiple contractures and their relationship with congenital amyoplasia

Context: Congenital amyoplasia is characterized by contractures (arthrogryposis) involving multiple large joints. Case report: The patient is a couple’s first daughter and no history of similar cases in the family. She was born at term, by cesarean delivery, weighing 3080 grams and with Apgar scores of 8 and 9. Gestational ultrasound revealed fetal akinesia, oligodramnia, and altered fetal skeletal musculature with shortening of the four limbs. During delivery, she suffered a fracture of the right femur. The patient evolved with a delay in neuropsychomotor development. On physical examination, hypotonia, nevus flammeus on the forehead, contractures involving several joints (including fingers, elbows, hips, knees and feet) were observed as well as pits in elbows and knees. Computed tomography scan of the skull showed cortical hypoplasia. Radiographic evaluation showed levoconvex thoracolumbar scoliosis and congenital changes in vertebral bodies of the thoracic spine, and thinning bone structures of the upper limbs. In addition, there were dysplastic acetabular, signs of constriction or tissue band in distal third of the right and middle thighs of the left, intense muscular hypotrophy, thinning of diaphysis of the femurs and echinovirus feet. Abdominal ultrasound and karyotype were normal. Conclusions: The clinical findings were compatible with those of congenital amyoplasia. Fetal akinesia or hypokinesia is a finding widely reported by mothers of children with this condition, as occurred in our case. Therefore, early interventions are very important, in order to avoid, in particular, greatest atrophy of the affected limbs, in addition to osteopenia.

Facomatosis pigmentovascular cesioflammea asociada a epilepsia focal mioclónica: Primer caso reportado en el Perú

La facomatosis pigmentovascular es un síndrome congénito muy poco frecuente, caracterizado por la presentación simultánea de una malformación vascular capilar y una lesión cutánea pigmentaria, con o sin compromiso extracutáneo. Se presenta el caso de una adolescente con epilepsia que cursa con crisis mioclónicas focales no controladas por un tratamiento farmacológico irregular, y que muestra además lesiones cutáneas compatibles con nevus flammeus y melanosis dérmica, ocular y palatina, presentes desde el nacimiento. Se trata del primer reporte en el país, de un síndrome neurocutáneo poco frecuente y de su asociación clínica con epilepsia, resaltándose además la importancia de una evaluación integral de esta entidad.

Manchas de vino oporto, la punta del iceberg para malformaciones vasculares congénitas

Estimados editores, a propósito de la publicación “Factores asociados a malformaciones congénitas” por Ayala FD et al, en el Volumen 8, Numero 4 del 2019; quisiéramos acotar que hubiera sido interesante reportar también las malformaciones congénitas de la piel, muy frecuentemente vistas en nuestro entorno, pero muy poco reportadas. Entre ellas, la que consideramos de particular importancia reportar es la mancha de vino oporto (PWS), también conocida como nevus flammeus. Esta presenta una incidencia considerable del 0.3% a 0.5% de la población neonatal, representando la malformación vascular congénita más frecuente en dicha etapa1. Resulta de la ectasia a nivel capilar y venular del tejido dérmico, teniendo como características clínicas ser una mancha de coloración rojo-violácea, vitropresión positiva que respeta la línea media. De todas las ubicaciones posibles, la región hemifacial posee la mayor connotación clínica, ya que puede estar asociada a complicaciones oculares y leptomeníngeas, siendo más prevalente en las lesiones de presentación ipsilateral2,3. Su importancia al identificarla, recae en que un gran porcentaje de estas pueden aparecer aisladamente, sin embargo, un 8% puede estar asociadas al síndrome de Sturge Weber (SWS), una facomatosis, que cursa clásicamente con PWS hemifacial, glaucoma y/o malformaciones leptomeningeas. Es necesario identificar a todo niño nacido con PWS y realizarle el descarte de este síndrome ya que su pronóstico, si bien depende del compromiso clínico, requiere, a diferencia de la PWS aislada, de un seguimiento a largo plazo por las especialidades de oftalmología y neurología, para su manejo y control 3-5. Clínicamente al identificar una PWS es importante delimitar bien su ubicación. Aquellas lesiones que comprometen el área sensitiva de la primera rama del nervio trigémino tienen una fuerte asociación al SWS. Su prevalencia en una lesión que compromete parcialmente esta rama sensitiva es del 26% y puede aumentar a un 78% cuando la compromete por completo. Por otro lado, el compromiso aislado de la región palpebral también se ha asociado una elevada asociación de patologías oculares por SWS3-6.

LASER SURGERY FOR CUTANEOUS SIMPLE CAPILLARY MALFORMATIONS IN CHILDREN

There are presented data on the epidemiology, pathogenesis, and diagnosis of cutaneous simple capillary malformations, described as Nevus simplex and Nevus flammeus (NF) in the Classification of Vascular Anomalies in a revision on May 2108. There are compared the efficacy and side effects of an application of laser irradiation of different wavelengths for the laser surgical treatment of NF in patients of various ages. There are described features of morphometry and angioarchitecture of the vascular bed of NF at the early and advanced stages of the disease. In order to substantiate the choice of the preferred laser irradiation settings, the peculiarities of absorption of the laser irradiation with different wavelengths by main cutaneous photothermophores (chromophores) are compared in children of various ages. For the first time, there are presented data on the age-related features of the absorption coefficient and the relevant absorption index for laser irradiation of different wavelengths. The maximum values of the absorption coefficients and the index of the relevance of the absorption of laser radiation with a wavelength of 578 nm by the main skin photothermophores indicate the greatest efficiency of the domestic copper vapor laser for the surgical treatment of NF in children of different ages.