RESUMEN
Hemihyperplasia-multiple lipomatosis syndrome (HMLS) is characterized by subcutaneous lipomatosis and an asymmetric overgrowth (hemihyperplasia). We report an extremely rare case of HMLS associated with hydrocephalus, emphasizing the clinical features and differential diagnosis.
Asunto(s)
Hidrocefalia/diagnóstico , Hiperplasia/diagnóstico , Lipomatosis/diagnóstico , Encéfalo/patología , Niño , Humanos , Vértebras Lumbares/anomalías , Vértebras Lumbares/patología , Imagen por Resonancia Magnética , Masculino , Escoliosis/diagnóstico , SíndromeAsunto(s)
Síndromes Neurocutáneos/diagnóstico , Síndrome de Sturge-Weber/diagnóstico , Atrofia , Niño , Discapacidades del Desarrollo/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Síndromes Neurocutáneos/patología , Síndromes Neurocutáneos/fisiopatología , Estado Epiléptico/genética , Síndrome de Sturge-Weber/patología , Síndrome de Sturge-Weber/fisiopatologíaRESUMEN
Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders characterized by hypoplasia and atrophy of the cerebellar cortex, dentate and pontine nuclei, and inferior olives. Lineer nevoid hyperpigmentation is a rare skin condition characterized by whorls and streaks of hyperpigmented macules in a reticulate pattern along Blaschko's lines. Herein we present a three year-old male patient with pontocerebellar hypoplasia associated with nevoid hyperpigmentation on the upper part of the body. Besides he has some dysmorphic features including microcephaly, triangular chin, long philtrum, long hand fingers, flexion contracture in all of the distal phalanges of both hands, and strabismus.