Subject(s)
DNA, Mitochondrial/genetics , Hypesthesia/genetics , Peripheral Nervous System Diseases/genetics , Point Mutation , Adult , Cold Temperature , Diagnosis, Differential , Electrodiagnosis , Hot Temperature , Humans , Hypesthesia/diagnosis , MELAS Syndrome/genetics , Male , Nerve Fibers/pathology , Pain Measurement , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/physiopathology , Sensory ThresholdsABSTRACT
We report a 22-year-old girl presenting with acute onset left sided hemiballism-hemichorea (HH) and non-ketotic hyperglycemia (NKH). Initial brain CT revealed faint hyperdensities, sharply confined to the contralateral nucleus caudatus and putamen. Sequential MRI investigations yielded increasing hypersignal intensities on T1-weighted images and resolving hypodensities on T2-weighted images of the right striatum, leaving small sequelae in the head of the right caudate nucleus. NKH is an unusual cause of HH. The abnormalities seen in neuroimaging are rare, but seem to be quite specific to this syndrome. We give an update on current literature regarding the possible pathophysiological processes underlying this specific clinical entity.
Subject(s)
Chorea/etiology , Dyskinesias/etiology , Hyperglycemia/complications , Hyperglycemia/diagnosis , Acute Disease , Adult , Anti-Dyskinesia Agents/therapeutic use , Brain/pathology , Chorea/pathology , Diagnosis, Differential , Dyskinesias/pathology , Female , Haloperidol/therapeutic use , Humans , Hyperglycemia/drug therapy , Hypoglycemic Agents/therapeutic use , Insulin/therapeutic use , Magnetic Resonance Imaging , Treatment OutcomeABSTRACT
Four elderly women are reported on with myopathies manifesting with isolated or predominant involvement of the paraspinal musculature. In three, the neck extensors were affected foremost, leading to "dropped head syndrome". In one, weakness of the thoracic paraspinal muscles caused "bent spine syndrome". It is suggested that these clinically distinct syndromes are caused by a primary tardive myopathic condition predominantly affecting the entire axial musculature.
Subject(s)
Back/innervation , Muscle Hypotonia/diagnosis , Muscle, Skeletal/innervation , Neck Muscles/innervation , Neuromuscular Diseases/diagnosis , Aged , Aged, 80 and over , Biopsy , Diagnosis, Differential , Electromyography , Evoked Potentials, Motor/physiology , Female , Follow-Up Studies , Humans , Muscle Hypotonia/etiology , Muscle, Skeletal/pathology , Muscular Atrophy/diagnosis , Muscular Atrophy/etiology , Neck Muscles/pathology , Neurologic Examination , Neuromuscular Diseases/etiology , SyndromeABSTRACT
We report a patient with known asymptomatic pulmonary alveolar proteinosis (PAP) who developed a cerebellar gait disorder and dysarthria caused by an isolated cerebellar nocardial abscess. To our knowledge only 1 patient with PAP and isolated central nervous system nocardia infection has previously been reported. In this early report, diagnosis was established at autopsy. In our patient the clinical and MRI examinations of this cerebellar abscess are described and specific features leading to earlier diagnosis and successful treatment are presented.
