Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome

Abstract Nevus sebaceous is the most common type of organoid epidermal nevus, often located on the face, following the Blaschko's lines and with alterations in the ipsilateral central nervous system. Distinct disorders can be distinguished by the type of association with epidermal nevus. Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes and bones. We report the case of an 8-year-old female patient with a yellowish verrucous plaque on the left temporal area extending ipsilaterally to the cervical region, combined with cicatricial alopecia, periocular nodule, and epibulbar tumors.

Compromiso ocular en la enfermedad de Chagas congénita: Cases report / Ocular involvement in congenital Chagas disease

El compromiso ocular es una forma de presentación infrecuente en los niños con la enfermedad de Chagas congénita. Se presentan tres pacientes menores de dos meses de edad con compromiso ocular, todos ellos derivados al hospital para control oftalmológico por prematuridad. El diagnóstico oftalmológico fue de vitreítis bilateral intensa (uveítis posterior) asociada a enfermedad de Chagas. Se realizó tratamiento antiparasitario, con buena respuesta en los tres casos. Debe considerarse la enfermedad de Chagas como diagnóstico diferencial de una patología ocular en los lugares donde la enfermedad es endémica y solicitar una evaluación oftalmológica en los niños con diagnóstico de la enfermedad, en especial aquellos sintomáticos y con antecedente de prematuridad.

Ophthalmic compromise is infrequent in children with congenital Chagas disease. We present 3 patients under 2 months of age, with ocular involvement, all of them referred to the hospital for ophthalmic evaluation of the premature newborn. The ophthalmic finding was bilateral severe vitreitis (posterior uveitis) related to Chagas disease. They received antiparasitic therapy with a good outcome in all cases. Chagas disease must be considered as differential diagnosis of ocular pathology in those countries where the pathology is endemic, and fundoscopic evaluation must be done in those children with the diagnosis, especially those symptomatic and prematurely born.

Síndrome de perfusión arterial retrógrada en gemelos (trap): feto acardio: reporte de un caso / Reversal arterial perfusion syndrome in twins (trap): acardiac fetus: case report

Se presenta el caso de una paciente de 23 años de edad, procedente del Estado Barinas, II gesta, la cual presenta un embarazo gemelar monocorial, donde el primer feto tuvo desarrollo normal y falleció por dificultad respiratoria en el período neonatal y el segundo, fue un feto acardio anceps. Al examinar el feto se observó ausencia de corazón y pulmones, cerebro rudimentario y anomalías de las extremidades. La disección reveló epidermis con abundantes células vacuolizadas, dermis edematosa y ausencia del epiplón mayor. Los genitales externos femeninos estaban bien desarrollados. El examen radiológico mostró un cráneo pequeño, osificación de columna vertebral y anomalías óseas de manos y pies. Se hizo una revisión de la literatura sobre acardia en los últimos 30 años

We presente the case of a 23 year old patient, from Barinas State, II gravida, with a twin monochorial pregnancy, a normal fetus who died for respiratory distress in neonatal period and the other one, was an acardio anceps. The acardius presented absence of heart and lungs, a rudimentary brain, and anomalies of extremities. The dissection showed epidermis with numerous vacuolized cells, edematous dermis and absence of mayor epiploon. The external female genitals were well developed. Radiological screening showed a rudimentary cranium and anomalies of the hands and feet. We reviewed the last 30 years of acardia literature

Cirurgia fetal nas complicações da gestação gemelar monocoriônica / Fetal surgery in complications of monochorionic twin pregnancies

As gestações múltiplas estão tornando-se cada vez mais freqüentes devido ao uso mais alargado de tratamentos de fertilidade. Estas gestações apresentam risco significativo para algumas complicações que são próprias das gestações monocoriônicas, tais como o feto acárdico e a síndrome da transfusão feto-fetal. Tais complicações obstétricas se constituem em desafios únicos. Este artigo revisa a conduta cirúrgica pré-natal nessas complicações

Multiple pregnancies are becoming increasingly common due to the expanded use of fertility treatments. Multifetal gestations constitute significant risk for complications that are unique to monochorionic gestations, such as Twin-to-twin transfusion syndrome and acardiac twin. These complications pose a number of unique challenges. This article reviews the surgical management of these complications

Acephalus acardiac fetus.

Acephalus Acardia is an uncommon congenital malformation due to twin reverse arterial perfusion syndrome. In this condition the donor twin provides circulation for itself and the recipient acardiac twin. The acardiac twin is grossly abnormal with severe reduction anomalies of the upper part of the body. We report a case with autopsy findings and review of literature.