ABSTRACT
Leukodystrophies and genetic leukoencephalopathies comprise a diverse group of neurodegenerative disorders of white matter with a wide age of onset and phenotypic spectrum. Patients with white matter abnormalities detected on magnetic resonance imaging (MRI) often present a diagnostic challenge to both general and specialist neurologists. Patients typically present with a progressive syndrome including various combinations of cognitive impairment, movement disorders, ataxia, and upper motor neuron signs. There are a number of important and treatable acquired causes for this imaging and clinical presentation; one of the causes is hyperhomocystinemia due to 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency. MTHFR deficiency is a genetic disorder that can occur at any age and can be easily detected by increased serum homocysteine levels and it is a treatable cause. Metabolic therapies like betaine were shown to be effective in children and adults to stop the disease progression and sometimes improve neurologic disabilities. Herein, we report a 16-year-old male with gradually progressive spastic paraparesis with history of cerebral venous sinus thrombosis and poor scholastic performance. The patient was diagnosed with MTHFR enzyme deficiency presenting as leukodystrophy with spastic paraparesis, which is treatable on early diagnosis. Treatment with betaine produced a rapid decline of homocysteine and improved the condition.
Subject(s)
Demyelinating Diseases , Homocystinuria , Paraparesis, Spastic , Adolescent , Humans , Male , Betaine/therapeutic use , Homocystinuria/complications , Homocystinuria/diagnosis , Homocystinuria/therapy , Methylenetetrahydrofolate Reductase (NADPH2)/geneticsABSTRACT
Pharmaco-resistant Epilepsy has been a major challenge for medical interventions in controlling seizures. To date, up to 33% of the patients with epilepsy do not show adequate response to anti-epileptic drugs even after prolonged combinatorial drug usage. Using microarray, this study explores the changes in hippocampal gene expression in the phenytoin-resistant pentylenetetrazol (PTZ)-kindled mouse model of epilepsy. Our results from mRNA microarray analysis show distinct gene expression profiles in the hippocampus of phenytoin-resistant and sensitive mice. Pathway enrichment analysis showed differential expression of genes involved in cholesterol biosynthesis in phenytoin-resistant and sensitive mice.
Subject(s)
Epilepsy , Kindling, Neurologic , Animals , Anticonvulsants/metabolism , Anticonvulsants/pharmacology , Anticonvulsants/therapeutic use , Cholesterol/metabolism , Epilepsy/chemically induced , Epilepsy/drug therapy , Epilepsy/genetics , Gene Expression , Hippocampus/metabolism , Humans , Mice , Pentylenetetrazole/metabolism , Pentylenetetrazole/toxicity , Phenytoin/metabolism , Phenytoin/pharmacology , Phenytoin/therapeutic useABSTRACT
Guillain-Barré syndrome is a rare manifestation of neuropsychiatric systemic lupus erythematosus (SLE). Clinical and electrophysiological features of Guillain-Barré syndrome in patients with SLE are different from those in patients without SLE. There is considerable variation in the management and prognosis. We present a patient with Guillain-Barré syndrome and SLE and review the recent knowledge on the various manifestations of neuropsychiatric SLE.
Subject(s)
Guillain-Barre Syndrome/complications , Lupus Vasculitis, Central Nervous System/complications , Combined Modality Therapy , Diagnosis, Differential , Female , Humans , Lupus Vasculitis, Central Nervous System/diagnosis , Lupus Vasculitis, Central Nervous System/therapy , Young AdultABSTRACT
Andersen Tawil Syndrome (ATS) is a very rare type of periodic paralysis; the authors present a case report from South India with features that have not been reported earlier. This case suggests many unexplored hypotheses for the disease and argues the need for physician sensitization of this entity.
