ABSTRACT
Leukodystrophies are genetically determined white matter disorders. Even though leukodystrophies essentially affect children in early infancy and childhood, these disorders may affect adults. In adults, leukodystrophies may present a distinct clinical and imaging presentation other than those found in childhood. Clinical awareness of late-onset leukodystrophies should be increased as new therapies emerge. MRI is a useful tool to evaluate white matter disorders and some characteristics findings can help the diagnosis of leukodystrophies. This review article briefly describes the imaging characteristics of the most common adult leukodystrophies.
Leucodistrofias são doenças geneticamente determinadas. Apesar das leucodistrofias afetarem principalmente crianças lactentes e infantes, estas doenças podem acometer a faixa etária adulta. Nos adultos, as leucodistrofias podem ter uma apresentação clínica e de imagem distinta daquela da infância. Um aumento na suspeita clínica de leucodistrofias com início tardio deve ocorrer associado ao aparecimento de novas alternativas terapêuticas. Este artigo de revisão descreve sumariamente as características de imagem nas leucodistrofias no adulto.
Subject(s)
Humans , Male , Adult , Middle Aged , Magnetic Resonance Imaging , Hereditary Central Nervous System Demyelinating Diseases/diagnosis , Image Enhancement , Hereditary Central Nervous System Demyelinating Diseases/classificationABSTRACT
The leukodystrophies are familial disorders with onset usually in infancy or childhood. The clinical features consist of motor dysfunction with varying degree of cognitive decline. Magnetic Resonance Imaging (MRI) has helped to identify and characterize these disorders. In some leukodystrophies, biochemical enzymatic and genetic defects have been identified. The commonest leukodystrophy seen in India is Megalencephalic Leukodystrophy with subcortical cysts. The essential features consist of large head, mild pyramidal and cerebellar dysfunction, and occasional seizures. MRI studies show extensive white matter changes with temporal cysts. It is common in the Agarwal community in India. An identical mutation in exon 2 of the MLC 1 gene has been identified in this community suggesting a founder effect.
Subject(s)
Adrenoleukodystrophy/diagnosis , Adult , Alexander Disease/diagnosis , Canavan Disease/diagnosis , Central Nervous System Cysts/diagnosis , Child , Female , Hereditary Central Nervous System Demyelinating Diseases/diagnosis , Humans , India , Infant , Leukodystrophy, Globoid Cell/diagnosis , Leukodystrophy, Metachromatic/diagnosis , Magnetic Resonance Imaging , Male , Membrane Proteins , MutationABSTRACT
Megalencephalic leukoencephalopathy with subcortical cysts is a rare disease first described in 1995. It is characterized by macrocephaly and early onset white matter degeneration. We report two siblings who were diagnosed to have this disease. This disease must be included in differential diagnosis of macrocephaly with early onset leukoencephalopathy.
Subject(s)
Brain Neoplasms/diagnosis , Central Nervous System Cysts/diagnosis , Child, Preschool , Hereditary Central Nervous System Demyelinating Diseases/diagnosis , Humans , Male , Mutation , Polymorphism, GeneticABSTRACT
Megalencephalic leukocncephalopathy is rare disorder seen in India in patient belonging to Agarwal community. Many of the patients may have a mild clinical course with gradual worsening of neurological disability. A case is being reported who was followed for 17 years and paradoxically showed radiological and clinical improvement.