ABSTRACT
Resumen: el misoprostol es un análogo de la prostaglandina E1 con diversas utilidadesterapéuticas incluyendo el tratamiento de la úlcera péptica. En el campo de la obstetricia es ampliamente utilizado para la inducción del trabajo de parto en escenarios específicos, abortos médicos e incluso emergencias obstétricas como el sangrado posparto. Su amplia distribución en el mercado farmacéutico ha llevadoa que sea usado de manera indiscriminada con fines abortivos, desconociendo su potencial teratogénico durante la gestación. En este manuscrito se presenta el caso de un recién nacido, hijo de madre de 17 años, expuesto prenatalmente a misoprostol en dosis de 1.000 mcg vía vaginal y 1.800 mcg vía oral entre las semanas cuatro y 16 de gestación, que presentaba marcadas malformaciones articulares clínicamente compatibles con el síndrome de Larsen, entidad caracterizadapor la presencia de dislocaciones de cadera, rodilla y codos, y deformidades en pie equino varo; además de hipertelorismo, frente prominente y puente nasal deprimido. Después de un estudio clínico y paraclínico se descartaron las posibles entidades genéticas y se demostró que las anomalías presentadas eran una fenocopia del síndrome de Larsen causadas por el efecto teratogénico del misoprostol.En conclusión, el misoprostol es un medicamento teratogénico contraindicado durante el embarazo, que causa un amplio espectro de anomalías congénitas que producen fenocopias de diversas entidades genéticas. Esta situación hace que el paciente expuesto requiera un abordaje y estudio adecuado para llegar a un diagnósticoetiológico correcto que lleve a la mejor conducta terapéutica, con manejo inter y multidisciplinario.
Abstract: misoprostol is an analogue of prostaglandin E1 with various therapeutic utilities, including treatment for peptic ulcer. In the obstetrics field is widely used for induction of labor in specific scenarios, medical abortions, and even obstetric emergencies, such as postpartum bleeding. Its wide distribution in the pharmaceuticalmarket has facilitated another indiscriminate uses like non-medical abortion,ignoring their teratogenic potential during gestation. In this manuscript, it present the case of a newborn, born to a mother of 17 years, who was exposed prenatally to a misoprostol dose of 1,000 μg by vaginal route and 1,800 μg per mouth, between weeks four and 16 of gestation, that showed marked articular malformations clinically compatible with Larsen syndrome. This entity is characterizedby the presence of dislocations of the hip, knee and elbows, deformitiesin equine foot Varus, in addition to hypertelorism, prominent forehead, and depressed nasal bridge. After a clinical study are discarded the possible genetic entities and it was demonstrated that the abnormalities were a imitation of Larsen syndrome caused by the teratogenic effect of misoprostol. In conclusion, misoprostolis a teratogenic drug contraindicated during pregnancy that causes a broad spectrum of congenital abnormalities that can cause imitation of several entities of genetic origin. This situation makes that exposed patient requires an appropriateapproach and clinical study to reach a correct a etiological diagnosis, leading to a better therapeutic approach with an inter and multidisciplinary management.
Subject(s)
Humans , Congenital Abnormalities , Misoprostol , Pregnancy , TeratogensABSTRACT
Larsen syndrome is a rare congenital skeletal malformation (1 in 100,000 births) caused by a generalized mesenchymal connective tissue disorder. This disorder leads to a broad spectrum of anomalies. Major diagnostic criteria are multiple dislocations of large joints (especially knees), short metacarpals with cylindrical nontapering fingers and craniofacial abnormalities. Clinical variations range from mild clinical expression to lethal forms. Sporadic occurrence as well as autosomal dorminant and recessive inheritance are described.
Subject(s)
Connective Tissue , Craniofacial Abnormalities , Joint Dislocations , Fingers , Joints , Metacarpal Bones , Methapyrilene , WillsABSTRACT
Larsen syndrome is a rare congenital connective tissue disorder which is characterized by multiple dislocation of major joints, typical facial appearance, cervical spine narrowing and instability, and respiratory difficulties secondary to laryngotracheomalacia. We describe a case of general anesthesia for orthopedic operations in female infant consistent with Larsen syndrome. The patient showed hypercapnia intraoperatively, but recovered without any sequelae.
Subject(s)
Female , Humans , Infant , Anesthesia, General , Connective Tissue , Joint Dislocations , Hypercapnia , Joints , Orthopedics , SpineABSTRACT
Larsen's syndrome is a very rare deformity, which is characterized by multiple congenital dislocations with a characteristic facial abnormality. The authors experienced a case of typical Larsen's syndrome that had saddle nose, hypertelorism, high-arched palate, dislocation of the hip joint, subluxation of the knee joint, dislocation of both radial heads, equinovarus deformities of both feet and winged scapulae of both shoulders. The dislocated left hip joint was reduced surgically and the result was excellent.