ABSTRACT
We herein report a 63-year-old rippling muscle disease (RMD) patient who presented with painless stiffness, muscle hypertrophy and muscle contractions elicited by mechanical stimulation. He also showed irregular toe jerks and a slightly elevated level of anti-acetylcholine receptor antibody (AChR-Ab). Since he had a mediastinal mass mimicking thymoma, which was later revealed to be a bronchial cyst, he underwent extended thymectomy. The irregular toe jerks disappeared within a week after the operation. The other muscle symptoms completely remitted 27 months after the onset. This is the first report of a sporadic case of RMD with irregular toe jerks that resolved after extended thymectomy.
Subject(s)
Myasthenia Gravis , Thymoma , Thymus Neoplasms , Autoantibodies , Humans , Male , Middle Aged , Muscular Diseases , Myasthenia Gravis/diagnosis , Myasthenia Gravis/surgery , Receptors, Cholinergic , Thymectomy , Thymoma/diagnosis , Thymoma/surgery , Thymus Neoplasms/complications , Thymus Neoplasms/diagnosis , Thymus Neoplasms/surgery , ToesABSTRACT
Lymphomatosis cerebri (LC) is a variant of primary central nervous system lymphoma, which demonstrates diffuse white matter infiltrates without showing definite enhanced mass lesions on MR scans. We present a case of seventy-one year-old immunocompetent male who manifested with progressive truncal ataxia and drowsiness. The MRI exhibited diffuse white matter lesions from brainstem to cerebral hemispheres with minimum enhanced lesions at the first presentation. Because the diagnosis of LC was suspected, we performed a brain biopsy from the enhanced lesion near the right thalamus, which revealed diffuse large B cell lymphoma. After he underwent methylprednisolone pulse therapy and methotrexate chemotherapy, he obtained remission. Making a diagnosis of LC is often difficult because image findings resemble those of inflammatory or autoimmune diseases. LC is an important differential diagnosis to be considered in patients presenting with diffuse white matter disease. Performing a brain biopsy at the early phase is essential for the correct diagnosis and the favorable prognosis.
Subject(s)
Biopsy/methods , Brain Neoplasms/diagnosis , Brain/pathology , Lymphoma, Large B-Cell, Diffuse/diagnosis , Aged , Antimetabolites, Antineoplastic/administration & dosage , Brain/diagnostic imaging , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/drug therapy , Brain Neoplasms/pathology , Diagnosis, Differential , Humans , Lymphoma, Large B-Cell, Diffuse/diagnostic imaging , Lymphoma, Large B-Cell, Diffuse/drug therapy , Lymphoma, Large B-Cell, Diffuse/pathology , Magnetic Resonance Imaging , Male , Methotrexate/administration & dosage , Treatment OutcomeABSTRACT
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.
