Assuntos
Encéfalo/diagnóstico por imagem , Mancha Mongólica/patologia , Doença de Sandhoff/genética , Doença de Sandhoff/patologia , Humanos , Lactente , Região Lombossacral/patologia , Imageamento por Ressonância Magnética/métodos , Masculino , Mancha Mongólica/etiologia , Doença de Sandhoff/diagnóstico , Doença de Sandhoff/metabolismoRESUMO
Introducción: la melanocitosis dérmica incluye un espectro de lesiones de piel que abarca la mancha mongólica, entre otras lesiones. Las enfermedades lisosomales son afecciones de base genética que se caracterizan por la acumulación de metabolitos insolubles parciamente degradados en los compartimentos lisosomales, debido a una determinada deficiencia enzimática. Las deficiencias de b-galactosidasa y de a-L-iduronidasa provocan la gangliosidosis GM1 y la mucopolisacaridosis tipo I respectivamente, ambas presentando similitudes en su presentación clínica. La asociación de la melanocitosis dérmica con las enfermedades lisosomales es poco común y mal entendida. Objetivo: reportar dos pacientes con esta rara asociación. Casos clínicos: dos varones de 3 y 9 meses sin antecedentes prenatales ni perinatales a destacar y antecedentes de infecciones respiratorias reiteradas. Se presentaron con retraso del desarrollo, hipotonía central y trastorno deglutorio. Al examen se constató hepatomegalia, fascies tosca y melanosis dérmica extensa. Los estudios permitieron diagnosticar al paciente de 3 meses mucopolisacaridosis Tipo I y al de 9 meses gangliosidosis GM1. Discusión: no se conoce exactamente la causa de esta asociación. Se plantea que sería el resultado de la acumulación de gangliósidos y heparán sulfato que estimularían al receptor del factor de crecimiento neuronal de tipo tirosinquinasa, deteniendo la migración de los melanocitos en la dermis. Por lo tanto la melanosis dérmica aberrante, en el contexto clínico adecuado, puede ser un signo que facilite el diagnóstico de una enfermedad lisosomal subyacente.
Introduction: dermal melanocytosis includes a spectrum of skin lesions, mongolian spots being one of them. Lysosomal storage diseases are characterized by the accumulation of partially degraded insoluble metabolites in lysosomal compartments due to enzyme deficiency. Deficiency in b-galactosidosisis is the cause of GM1 gangliosidosis and deficiency in a-L-iduronidasa of mucopolysaccharidosis type I. Both have similar clinical presentations. Association of dermal melanocytosis and lysosomal storage diseases is uncommon and misunderstood. Objective: to report the case of two patients with this rare association. Clinical cases: the study presents two boys, 3 and 9 months old, with no remarkable family, pregnancy or delivery history. Both had repeated respiratory tract infections. They presented with developmental delay, central hypotonia and swallowing disorder. Upon clinical examination they showed hepatomegaly, coarse facies and extensive dermal melanocytosis. They were diagnosed with GM1 gangliosidosis and mucopolysaccharidosis type I. Discussion: the cause of this association is not well known. It is hypothesized that accumulation of gangliosides and heparan sulfates stimulates tyrosine-kinase neuronal growth factor receptor, stopping dermal melanocytosis migration. Therefore extensive dermal melanocytosis, in an appropriate clinical setting, may contribute to diagnosing lysosomal storage diseases.
Assuntos
Humanos , Masculino , Lactente , Neoplasias Cutâneas , Doenças por Armazenamento dos Lisossomos/complicações , Gangliosidose GM1/diagnóstico , Mucopolissacaridose I/diagnóstico , Mancha Mongólica/etiologiaAssuntos
Gangliosidose GM1/complicações , Gangliosidose GM1/diagnóstico , Mancha Mongólica/diagnóstico , Mancha Mongólica/etiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etiologia , Diagnóstico Diferencial , Gangliosidose GM1/patologia , Humanos , Lactente , Masculino , Mancha Mongólica/patologia , Neoplasias Cutâneas/patologiaRESUMO
Although typical and limited Mongolian spots are benign skin markings at birth which fade and disappear as the child grows, extensive Mongolian spots deserve special attention as possible indications of associated inborn error of metabolism. A few cases of extensive Mongolian spots in association with inheritable storage diseases have been reported. Some hypotheses have been put forward, but further investigation is necessary to elucidate the causative factors. This report describes three infants with generalized Mongolian spots, two infants with GM1 gangliosidosis type 1, and one in association with Hurler syndrome. Findings of generalized Mongolian spots in newborns may lead to an early detection and early treatment before irreversible organ damage occurs.
Assuntos
Gangliosidose GM1/complicações , Mancha Mongólica/etiologia , Mucopolissacaridose I/complicações , Neoplasias Cutâneas/etiologia , Humanos , Lactente , Masculino , Mancha Mongólica/patologia , Neoplasias Cutâneas/patologiaRESUMO
Mongolian spots are the most frequently seen birthmarks in infants. They have almost universally been regarded as benign cutaneous manifestations that have no clinical significance. Recently, however, there have been studies suggesting that Mongolian spots manifest more often in children with certain inborn errors of metabolism, including mucopolysaccharidosis and GM1 gangliosidosis.