Subject(s)
Multiple Sclerosis, Chronic Progressive/complications , Multiple Sclerosis, Chronic Progressive/diagnosis , Multiple System Atrophy/complications , Multiple System Atrophy/diagnosis , Atrophy/pathology , Brain/pathology , Brain Stem/pathology , Diagnosis, Differential , Fatal Outcome , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Parkinson Disease, Secondary/diagnosis , Parkinson Disease, Secondary/etiologyABSTRACT
Lafora body disease is one cause of progressive myoclonus epilepsy. It typically presents in the second decade with generalized seizures, myoclonus and then intellectual decline. Death is usual within 10 years. Diagnosis may be made by biopsy of skin, muscle, liver or brain. We present four siblings who were normal until their mid-twenties, but then developed intellectual decline, followed by myoclonus. Although a rare form of Lafora body disease has been described that follows a more benign course, may be of later onset, and whose pathology is subtly different, this family is so far unique in terms of the late presentation of otherwise typical Lafora body disease.
Subject(s)
Apocrine Glands/pathology , Brain Diseases/diagnosis , Epilepsies, Myoclonic/etiology , Adult , Biopsy , Brain Diseases/complications , Cytoplasm/ultrastructure , Dementia/etiology , Electroencephalography , Fatal Outcome , Female , Humans , Male , Microscopy, ElectronSubject(s)
Electric Injuries/physiopathology , Neck Muscles/innervation , Torticollis/physiopathology , Adult , Autonomic Nervous System/physiopathology , Botulinum Toxins/administration & dosage , Humans , Injections, Intramuscular , Male , Neurologic Examination/drug effects , Torticollis/drug therapySubject(s)
Encephalitis/cerebrospinal fluid , Herpes Simplex/cerebrospinal fluid , Aged , Female , Humans , Leukocyte CountABSTRACT
A 42 year old Greek male with pseudo-pseudohypoparathyroidism presented with difficulty in walking and with lower limb weakness. His physical signs included short stature, thick neck, short fourth metacarpals and metatarsals, and a spastic paraparesis. Serum calcium and phosphate and parathyroid concentrations were normal. Myelography demonstrated compression of the cervical and lumbar cord in association with local bony abnormalities.
Subject(s)
Myelography , Pseudopseudohypoparathyroidism/diagnostic imaging , Spinal Cord Compression/diagnostic imaging , Adult , Calcium/blood , Cauda Equina/diagnostic imaging , Humans , Male , Nerve Compression Syndromes/diagnostic imaging , Ossification, Heterotopic/diagnostic imaging , Parathyroid Hormone/blood , Phosphates/blood , Thoracic Vertebrae/diagnostic imagingABSTRACT
Using [18F]dopa, [11C]raclopride, C15O2, and positron emission tomography, we have assessed striatal dopamine storage capacity, dopamine D2-receptor integrity, and regional cerebral blood flow, respectively, of 6 patients with neuroacanthocytosis. The patients with neurocanthocytosis all had chorea and variable combinations of seizures, dementia, axonal neuropathy, and orolingual self-multiation. [18F]dopa positron emmission tomographic findings were compared with 30 normal controls and 16 patients with sporadic, L-dopa-responsive, Parkinson's disease. Caudate and anterior putamen [18F]dopa uptake were normal in patients with neuroacanthocytosis, but mean posterior putamen [18F]dopa uptake was reduced to 42% of normal, similar to that in patients with Parkinson's disease. In patients with neuroacanthocytosis, mean equilibrium caudate: cerebellum and putamen: cerebellum [11C]raclopride uptake ratios were reduced to 54% and 62% of normal, compatible with a 65% and 53% loss of caudate and putamen D2-receptor-binding sites, respectively. Striatal and frontal blood flow was also depressed. The severe loss of D2-receptor-bearing striatal neuron, with concomitant loss of dopaminergic projections from the nigra to the posterior putamen, is consistent with both chorea and extrapyramidal rigidity being features of patients with neuroacanthocytosis.
Subject(s)
Acanthocytes , Brain Diseases/diagnostic imaging , Corpus Striatum/diagnostic imaging , Levodopa/pharmacokinetics , Tomography, Emission-Computed , Adult , Aged , Brain Diseases/physiopathology , Caudate Nucleus/blood supply , Caudate Nucleus/diagnostic imaging , Cerebellum/diagnostic imaging , Cerebrovascular Circulation , Corpus Striatum/physiopathology , Female , Humans , Male , Middle Aged , Putamen/diagnostic imaging , Receptors, Dopamine/analysis , Reference ValuesABSTRACT
Two patients with lithium toxicity presented with a neurological syndrome suggesting a diagnosis of Creutzfeldt-Jakob disease. In both cases, the initial EEG was consistent with this diagnosis. Neither patient had permanent neurological sequelae and the EEG returned to normal. A careful drug history should be taken in any patient who presents with a rapidly progressive dementia even when the EEG supports a diagnosis of Creutzfeldt-Jakob disease.
Subject(s)
Bipolar Disorder/drug therapy , Creutzfeldt-Jakob Syndrome/chemically induced , Electroencephalography , Lithium/adverse effects , Substance-Related Disorders/etiology , Aged , Evoked Potentials/drug effects , Female , Humans , Lithium/therapeutic use , Lithium CarbonateSubject(s)
Encephalitis/diagnosis , Rubella/diagnosis , Adolescent , Diagnosis, Differential , Humans , MaleSubject(s)
Hemianopsia/etiology , Subacute Sclerosing Panencephalitis/diagnosis , Adult , Diagnosis, Differential , Humans , MaleABSTRACT
Seven cases with acute cervical cord lesions associated with a fit and fall, were found in approximately 500 patients with epilepsy over a period of 7 years. In all patients the epilepsy was refractory to drug therapy and six suffered tonic fits which resulted in falls and frequent head injuries. Notable radiological changes were found in the cervical spine; there was ankylosis in five, hyperostosis in four and the minimum sagittal diameter of the bony canal was less than 11mm in three cases. The findings indicate that repetitive trauma may be a factor in producing bony changes in the cervical spine which put the patient at risk of cervical cord injury, especially when the spinal canal is developmentally narrow.
Subject(s)
Epilepsy/complications , Spinal Cord Injuries/etiology , Adult , Aged , Craniocerebral Trauma/etiology , Female , Hemiplegia/etiology , Humans , Male , Middle Aged , Myelography , Spinal Cord Compression/etiology , Spinal Osteophytosis/etiology , Spondylitis, Ankylosing/etiologyABSTRACT
Two cases of spinal myoclonus are described; in both patients myoclonus was responsive to stimuli and absent during sleep. The first patient was considered to have viral neuronitis and the condition resolved spontaneously. The second patient had spinal cord ischaemia; there was electro-physiological evidence of abnormal alpha motor neurone activity and histological study of the spinal cord revealed a severe reduction in small and intermediate neurones. This supports the theory that spinal myoclonus may result from abnormal activity of alpha motor neurones released from control by spinal internuncial neurones.
Subject(s)
Myoclonus/pathology , Spinal Cord Diseases/pathology , Spinal Cord/pathology , Adult , Aged , Cell Count , Electromyography , Female , Humans , Male , Myoclonus/diagnosis , Myoclonus/etiology , Spinal Cord Diseases/complications , Spinal Cord Diseases/diagnosis , SyndromeABSTRACT
A patient is described with aspergillus flavus granuloma of the trigeminal ganglion. The patient was effectively treated by surgical excision of most of the infected tissue followed by intensive chemotherapy with amphotericin B and flucytosine.
Subject(s)
Aspergillosis/surgery , Cranial Nerve Diseases/surgery , Granuloma/surgery , Trigeminal Ganglion , Trigeminal Nerve , Adult , Humans , Male , Trigeminal Ganglion/surgery , Trigeminal Nerve/surgerySubject(s)
Bulbar Palsy, Progressive/diagnosis , Aged , Bulbar Palsy, Progressive/complications , Female , Humans , Male , Middle Aged , Ophthalmoplegia/etiology , SyndromeABSTRACT
The ultrastructural findings in nerve biopsies from two cases of late onset metachromatic leukodystrophy were compared with those in cases of late infantile and juvenile onset. Hypertrophic changes and regenerating clusters were more evident in the late onset cases, in which macrophages were less frequent, presumably reflecting the chronicity of the disorder in this form. Inclusions within Schwann cells and endoneurial macrophages were similar in all four cases. Myelin figures, in which the periodicity of major dense lines was 8 nm, were present in Schwann cells associated with myelinated axons. The electron lucent zones between the major dense lines were bisected by lines of lesser electron density. These inclusions were probably related to myelin breakdown. All other inclusions displayed a periodicity of 5.8 nm and consisted of zebra bodies, vacuoles containing irregularly orientated lamellar material and stacks of flattened discs. These inclusions represented the metachromatic sulphatide deposits. Occasional inclusion bodies were observed within axons.