ABSTRACT
Introducción: El síndrome de Proteus es un raro síndrome hamartomoso congenito con manifestaciones neuroectodérmicas, de carácter progresivo y grado de severidad variable. Objetivo: Presentar un caso clínico donde se combinan dismorfias faciales, crecimiento excesivo de una hemicara, macrocráneo y manifestaciones neurológicas. Presentación del caso: lactante de 10 meses, femenina, con antecedentes de embarazo de riesgo, hija de madre adolescente, con exposición fetal a tabaco, marihuana y alcohol; nació con macrocefalia, dismorfia facial con hemihipertrofia derecha y nevó hiperpigmentado que comenzó con espasmos infantiles desde el primer mes vida y se diagnosticó síndrome west de etiología estructural con hemimegancefalia derecha. Cumple los criterios clínicos de síndrome de Proteus y tuvo una respuesta favorable con control de los espasmos, mejoría de la hipsarritmia y del desarrollo psicomotor, con tratamiento combinado de hormona adenocorticotrópica y vigabatrina. Conclusiones: el síndrome de Proteus se caracteriza por crecimiento exagerado en varios tejidos (epidérmico, conectivo, óseo, adiposo y endotelial) durante la embriogénesis, por lo que las manifestaciones clínicas suelen ser evidentes desde el nacimiento o en los primeros años de vida, se relaciona con un grupo de casos con malformaciones del sistema nervioso central y síndrome de West(AU)
Introduction: Proteus syndrome is a rare congenital hamartoma syndrome with neuroectodermal manifestations of progressive kind and a degree of variable severity. Objective: To present a clinical case where facial diysmorphias, the excessive growth of a hemicara, a macro-skull, and neurological manifestations are combined. Case presentation: A 10-month-old female infant with a history of risky pregnancy, daughter of a teenage mother, with fetal exposure to tobacco, marijuana and alcohol. She was born with macrocephaly, facial dysmorphia with right hemihypertrophy, hyperpigmented nevus that started with infantile spasms from the first month of life; and West syndrome of structural etiology with right hemimegalencephaly was diagnosed. The patient meets the clinical criteria of Proteus syndrome and she had a favorable response to the combined treatment of adrenocorticotropic hormone and Vigabatrin with control of spasms, improvement of hypsarrhythmia and psychomotor development. Conclusions: Proteus syndrome is characterized by exaggerated growth in various tissues (epidermal, connective, bone, adipose and endothelial) during embryogenesis, so that clinical manifestations are usually evident from birth or in the first years of life. It is related with a group of cases with malformations of the central nervous system and West syndrome(AU)
Subject(s)
Humans , Female , Infant , Spasms, Infantile/diagnosis , Proteus Syndrome/complicationsABSTRACT
Proteus syndrome is one of the very rare syndromes with occurrence of cerebriform connective tissue nevus. The aim of the present manuscript was to present a case of Proteus syndrome in an unusual facial location, which to the best of our knowledge, is being reported for the first time. The unusual occurrence further strengthens the mosaical basis of its etiopathogenesis.
Subject(s)
Adolescent , Facial Paralysis/etiology , Female , Nevus/pathology , Proteus Syndrome/complications , Proteus Syndrome/diagnosisABSTRACT
The purpose of this study was to report developmental glaucoma and pseudopapilledema in a patient with Proteus syndrome. We defined the presence of developmental glaucoma, right pseudopapilledema and myopia in a 4.5-year-old patient with Proteus syndrome. Marked right hemihypertrophy, lipoma, macrodactyly, and asymmetry of the limbs were observed on systemic examination. A cavernoma was also detected in magnetic resonance imaging of the brain. The patient underwent bilateral goniotomy surgery due to glaucoma. The surgical outcomes were satisfactory in both eyes. In conclusions developmental glaucoma and pseudopapilledema might be associated with Proteus syndrome.
Subject(s)
Child, Preschool , Humans , Male , Disease Progression , Glaucoma/diagnosis , Intraocular Pressure/physiology , Magnetic Resonance Imaging/methods , Proteus Syndrome/complicationsABSTRACT
Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.
Subject(s)
Child, Preschool , Female , Humans , Port-Wine Stain/complications , Proteus Syndrome/complications , Spina Bifida Occulta/complicationsABSTRACT
Proteus syndrome, which is a reference to the ancient Greek god Proteus, the Polymorphous, was called to the attention of pediatricians. Recognition of this syndrome has been difficult because of the variability of the syndrome's manifestations and because of its rarity. We describe a rare case of Proteus syndrome and we discuss its differential diagnosis. Our case presents with hemi facial hypertrophy, scrotal tongue, enamel hyperplasia as well as differential in the size of the dentition on both sides of the arch.
Subject(s)
Child , Craniofacial Abnormalities/etiology , Early Diagnosis , Facial Asymmetry/etiology , Humans , Male , Odontometry , Proteus Syndrome/complications , Tongue/abnormalities , Tooth Abnormalities/etiologyABSTRACT
El síndrome Proteus es una entidad poco frecuente, caracterizada por crecimiento progresivo y desproporcionado de diferentes tejidos asociado a múltiples anormalidades. Estas incluyen malformaciones vasculares, distintos tipos de nevos, lipomas, con expresión clínica muy variable. El crecimiento excesivo de miembros o de dígitos es característico y generalmente se asocia a un engrosamiento cerebriforme de las plantas de pies. Su etiología es desconocida y se ha propuesto que se debería a un gen autosómico letal que sobrevive en estado de mosaicismo. En 1998, Biesecker y colaboradores propusieron diferenciar por sus características clínicas y evolutivas una nueva entidad: el síndrome de hemihiperplasia-lipomatosis múltiple, que incluye hiperplasia poco o nada progresiva y múltiples lipomatosis. Describimos el caso de una paciente de 22 meses de edad con hiperplasia de miembro inferior derecho y masas lipomatosas en dorso y hacemos la diferenciación con el síndrome Proteus
Subject(s)
Humans , Female , Infant , Lipomatosis , Proteus Syndrome/diagnosis , Klippel-Trenaunay-Weber Syndrome , Lipomatosis , Magnetic Resonance Imaging , Neoplasms , Proteus Syndrome/complications , Proteus Syndrome/genetics , Tomography, X-Ray ComputedABSTRACT
Relata-se o caso de paciente de 12 anos, masculino, que apresenta hemi-hipertrofia no crânio e na face, nevo verrucoso linear, atrofia em placas no abdômen, escoliose e lesäo com aspecto cerebriforme na regiäo plantar direita, e cujo exame histopatológico foi compatível com nevo conjuntivo. Esses achados caracterizam a s1ndrome de Proteu, que apresenta grande pleomorfismo, sendo as lesöes cutâneas importantes no seu diagnóstico
Subject(s)
Humans , Male , Child , Nevus/pathology , Proteus Syndrome/complications , Proteus Syndrome/diagnosis , Proteus Syndrome/pathology , Connective TissueABSTRACT
A race case of Proteus syndrome is presented. The main features of this hamartomatous condition are partial gigantism of hands and feet, hemihypertrophy, subcutaneous masses, epidermal nevi and bony abnormalities. The condition is extremely rare. Though the child had severe cosmetic disability, motor intellectual and language development was found to be normal.