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Clinical Reasoning: A Young Man With Subacute Onset of Spastic Paraparesis
Salvatore Rossi1, Paola Concolino1, Daniele Di Natale1
1From the Dipartimento di Scienze dell'Invecchiamento (S.R., D.D.N., G.S.), Neurologiche, Ortopediche e della Testa-Collo, UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Dipartimento di Neuroscienze Università Cattolica del Sacro Cuore (S.R., D.D.N., G.S.), Facoltà di Medicina e Chirurgia, Rome, Italy; UOC Chimica (Paola Concolino), Biochimica e Biologia Molecolare Clinica - Area Diagnostica di Laboratorio, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Istituto di Medicina Genomica (D.P., Pietro Chiurazzi), Università Cattolica del Sacro Cuore, Rome, Italy; Department of Diagnostic Imaging (G.M.D.L.), Oncological Radiotherapy, and Hematology, UOC Neuroradiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS and Università Cattolica del Sacro Cuore, 00168 Rome, Italy; and UOC Genetica Medica (Pietro Chiurazzi), Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.
Abstract:
Leukodystrophies are a group of rare neurodegenerative disorders, usually presenting in infancy with a variable combination of cognitive, motor, and coordination impairment. Adult-onset cases are even more rare, often representing a diagnostic challenge even for experienced neurologists. Here, we present a case of a 44-year-old man with subacute and rapidly progressive spastic paraplegia, whose brain MRI revealed white matter abnormalities compatible with a diagnosis of leukodystrophy. We discuss how to apply a simplified diagnostic algorithm to distinguish acquired leukoencephalopathies from leukodystrophies and how to delve into the maze of genetic testing for white matter diseases. In our patient, we reached the diagnosis of a treatable disorder, whose early recognition is essential to prevent severe neurologic deterioration.
