ABSTRACT
Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) is an extremely rare syndrome characterized by familial occurrence of postural and action-induced tremors of the hands but showing electrophysiologic findings of cortical reflex myoclonus. Patients also have cognitive decline and tonic-clonic seizures, often precipitated by sleep deprivation or photic stimulation. We describe probably the first family from India of this ill-defined syndrome.
ABSTRACT
A 27-year-old woman was diagnosed with juvenile myoclonic epilepsy since the age of 13 and was on valproate therapy. She had a single episode of demyelinating illness while on valproate therapy. Two years earlier, her medication was changed to lamotrigine to avoid the teratogenic effects of valproate, after which the frequency of her demyelinating events increased to four episodes in 1.5â years, satisfying the revised McDonald criteria for multiple sclerosis. Valproate has been shown to restore T-cell homoestasis and ameliorate pathogenesis of experimental allergic encephalomyelitis, a mouse model of multiple sclerosis. Therefore, we propose a potential dual role of valproate in patients with co-existent juvenile myoclonic epilepsy and multiple sclerosis.
Subject(s)
Multiple Sclerosis/drug therapy , Myoclonic Epilepsy, Juvenile/drug therapy , Valproic Acid/therapeutic use , Adult , Anticonvulsants/therapeutic use , Brain/pathology , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Multiple Sclerosis/complications , Multiple Sclerosis/diagnosis , Myoclonic Epilepsy, Juvenile/complications , Myoclonic Epilepsy, Juvenile/diagnosisSubject(s)
Cervical Vertebrae/pathology , Osteochondroma/pathology , Spinal Neoplasms/pathology , Adult , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/surgery , Humans , Male , Osteochondroma/diagnostic imaging , Osteochondroma/surgery , Radiography , Spinal Neoplasms/diagnostic imaging , Spinal Neoplasms/surgery , Young AdultABSTRACT
A 60-year-old man presented with a 25-day history of acute onset instability of gait, tremulousness of limbs and involuntary eye movements. Examination revealed presence of opsoclonus, myoclonus and ataxia, without any loss of motor power in the limbs. Prompt investigations were directed towards identifying an underlying malignancy which is often associated with this type of clinical scenario. CT of the brain was normal and cerebrospinal fluid examination showed lymphocytic pleocytosis. A cavitatory lesion was found in the right lung base on the high-resolution CT of the chest and histopathological examination of this lung mass showed small cell lung carcinoma. The patient was managed symptomatically with levetiracetam and baclofen and referred to oncology department for resection of the lung mass.
Subject(s)
Lung Neoplasms/diagnosis , Opsoclonus-Myoclonus Syndrome/etiology , Small Cell Lung Carcinoma/diagnosis , Baclofen/therapeutic use , Humans , Levetiracetam , Lung/diagnostic imaging , Lung/pathology , Lung Neoplasms/complications , Lung Neoplasms/drug therapy , Male , Middle Aged , Muscle Relaxants, Central/therapeutic use , Opsoclonus-Myoclonus Syndrome/drug therapy , Piracetam/analogs & derivatives , Piracetam/therapeutic use , Radiography , Small Cell Lung Carcinoma/complications , Small Cell Lung Carcinoma/drug therapyABSTRACT
A young girl presented with a 1-month history of constitutional symptoms, headache and vomiting and 7-day history of left hemiparesis. Neuroimaging showed the 'trapped temporal horn' sign, suggestive of focal obstructive hydrocephalus at the foramen of Monro. Analysis of the cerebrospinal fluid and other investigations revealed a tubercular aetiology. The patient was managed with a ventriculoperitoneal shunt and antitubercular medications.
