ABSTRACT
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD). They were studied in their clinical, laboratory, and neuroradiologic features. The index case had a brain magnetic resonance imaging (MRI) and the second patient had a head computerized tomography (CT). In addition, a literature review was performed to describe the main forms of CMD. The index case fulfilled all criteria for WWS. A brain MRI performed at age 4 months served to corroborate the clinical diagnosis, showing severe hydrocephalus, type II lissencephaly, cerebellar vermian aplasia, and a hypoplastic brain stem. The authors were able to establish a retrospective diagnosis of WWS in the index cases's older sister, based upon her clinical picture and head CT report.
Subject(s)
Humans , Female , Infant , Hydrocephalus/diagnosis , Muscular Dystrophies/congenital , Muscular Dystrophies/diagnosis , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/pathology , Brain/abnormalities , Brain/pathology , Hydrocephalus/pathology , Magnetic Resonance Imaging , Muscular Dystrophies/classification , Muscular Dystrophies/pathology , Prenatal Diagnosis , Syndrome , Tomography, X-Ray ComputedABSTRACT
A monitorizacao das trocas hidricas durante a hemodialise e essencial para a segurança e eficácia do procedimento. A bioimpedancia tem sido usada para a aferiçäo dos compartimentos corporais em muitas circunstäncias, mas a experiência durante a hemodialise e relativamente escassa. Num estudo prospectivo de 28 casos de insuficiencia renal crônica tratados por dialise crônica ambulatorial, os estudos de composicao corporea foram realizados imediatamente antes e após a sessäo de dialise. Os métodos abrangiam peso corporal, albumina serica, hematocrito, hemoglobina, sodio e osmolaridade plasmatica. Estas variáveis foram comparadas com os achados de bioimpedancia, nominalmente massa magra, gordura corporal, agua total, agua intra e extracelular, terceiro espaço, e relaçäo sódio/potassio permutavel. Os pacientes perderam peso e melhoraram o hematocrito, hemoglobina, osmolaridade e sódio serico no decurso da terapeutica, e as medidas de impedancia revelaram-se compativeis com estas modificaçöes...