Purpose: The present report illustrates two men aged for 59 and 43 years, respectively, who presented with slowly progressive spastic paraparesis.
Study Design: Two case reports and review of literature.
Methods: The patent's history, clinical examination, biology, magnetic resonance imaging (MRI) findings and treatment are reported. We also discuss the pathogenesis and various treatment options.
Results: Neurologic examination showed spastic paraparesis without other neurological disorders. MRI of the spinal cord and brain were normal. Cytologic examination of cerebrospinal fluid from each patient was normal. Hemogram disclosed a pancytopenia. Partial thromboplastin time was prolonged. Liver function tests revealed raised serum bilirubin, normal alanine aminotransferase and aspartate aminotransferase, reduced total protein and albumin. Plasma ammonia was elevated. Blood vitamin B12 and folate values were in normal ranges. Serum antibodies to human T cell lymphotropic virus, human immunodeficiency virus, syphilis and hepatitis C virus were absent. Hepatitis B virus antibody assay was positive. The electromyographic evaluation for second motor neuron involvement was also normal. Endoscopy revealed esophageal varices and a spleno-renal shunt.
Conclusions: Hepatic myelopathy remains a default diagnosis assigned only after the exclusion of other causes of spastic paraparesis and partial transverse myelopathy. An accurate history, along with appropriate imaging and laboratory findings, is crucial.
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http://dx.doi.org/10.1007/s00586-013-2828-z | DOI Listing |
Neuromodulation
January 2025
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
Objectives: Intrathecal baclofen (ITB) therapy is well documented as an effective treatment option for severe spasticity. Before ITB implantation, trials are conducted to evaluate efficacy, safety, and candidate suitability. While many centers conduct ITB trials, appropriate physical assessment has not been fully established.
View Article and Find Full Text PDFHum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFEur J Neurol
January 2025
Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia.
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Bochkov Research Centre for Medical Genetics, Moscow, Russia.
A fifth world case of autosomal recessive Siddiqi syndrome (SIDDIS) related to ene is presented. In a consanguineous Lezgin (a Dagestan ethnicity) family, there were two affected brothers aged 28 yrs (proband, personally examined) and 32 yrs. Whole-exome sequencing followed by familial Sanger sequencing detected a novel missence variant c.
View Article and Find Full Text PDFCerebellum
December 2024
Department of Neurology, International University of Health and Welfare Mita Hospital, Mita 1-4-3, Minato-ku, Tokyo, 108-8329, Japan.
Variants in KIF1A are associated with hereditary spastic paraplegia (SPG30), which can manifest in both pure and complex forms. We describe a Japanese family with a novel KIF1A variant presenting with a complex form of SPG30. Patient 1, a 69-year-old woman, experienced progressive gait disturbance due to spastic paraparesis and cerebellar atrophy, and intellectual disability.
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