ABSTRACT
We present a patient with acquired immunodeficiency syndrome (AIDS) with bilateral sequential optic neuropathies attributed to the 14484 mutation of Leber hereditary optic neuropathy (LHON). We discuss the potential interaction of the mitochondrial mutation with antiretroviral therapy and review the literature.
Subject(s)
Acquired Immunodeficiency Syndrome/complications , Optic Atrophy, Hereditary, Leber/etiology , Acquired Immunodeficiency Syndrome/diagnosis , Acquired Immunodeficiency Syndrome/drug therapy , Adult , Anti-HIV Agents/adverse effects , Anti-HIV Agents/therapeutic use , DNA Mutational Analysis , DNA, Mitochondrial/drug effects , DNA, Mitochondrial/genetics , Diagnosis, Differential , Fatal Outcome , Humans , Male , Mitochondria/drug effects , Optic Atrophy, Hereditary, Leber/diagnosis , Optic Atrophy, Hereditary, Leber/genetics , Vision Disorders/diagnosis , Vision Disorders/etiology , Vision Disorders/geneticsABSTRACT
PURPOSE: To report the onset and progression of retinal nerve fiber layer myelination in an adolescent patient. METHODS: Case report. RESULTS: A 7-year-old male was found to have myelination of the retinal nerve fiber layer in the left eye. When he was reexamined at age 14 years, he was found to have new myelination in the right eye, progression of the myelination in the left eye, and bilateral optic nerve drusen. CONCLUSION: Retinal nerve fiber layer myelination can occur spontaneously in adolescence, progress in adolescence, and be associated with optic nerve drusen.
Subject(s)
Myelin Sheath/pathology , Nerve Fibers/pathology , Optic Disk Drusen/diagnosis , Optic Nerve/pathology , Retinal Diseases/diagnosis , Child , Disease Progression , Humans , MaleABSTRACT
Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disease characterized by movement abnormalities and dementia that inevitably progress to death. Familial, infectious, and sporadic forms of the disease are recognized. The worldwide incidence of CJD is estimated at 1:1,000,000 per year, and it affects middle-aged men and women in roughly equal proportions. The disease is caused by a unique infectious vector, the prion, which is a mutant form of a normally occurring cell surface protein found predominantly in the central nervous system. A significant proportion of patients with CJD will have visual disturbances at some point in their illness and may therefore consult a neuro-ophthalmologist. The case of a woman in whom the diagnosis of CJD was not known until autopsy is reported. Early in the course of her disease, she sought ophthalmic consultation because of vision problems.
Subject(s)
Creutzfeldt-Jakob Syndrome/diagnosis , Electroretinography , Retinal Diseases/diagnosis , Vision Disorders/diagnosis , Adult , Brain/pathology , Brain Chemistry , Creutzfeldt-Jakob Syndrome/physiopathology , Female , Humans , Magnetic Resonance Imaging , Prions/analysis , Retina/physiopathology , Retinal Diseases/physiopathology , Vision Disorders/physiopathologyABSTRACT
OBJECTIVE: To determine whether characteristics of optic nerve swelling assist in distinguishing between optic neuritis and anterior ischemic optic neuropathy. METHOD: Optic nerve stereophotograph review by masked observers. RESULTS: Altitudinal swelling, pallor, arterial attenuation, and hemorrhage are found more commonly in anterior ischemic optic neuropathy than in optic neuritis. CONCLUSION: Optic disc appearance does help to distinguish anterior ischemic optic neuropathy from optic neuritis, although there are overlapping features.
Subject(s)
Optic Disk/pathology , Optic Neuritis/diagnosis , Optic Neuropathy, Ischemic/diagnosis , Papilledema/pathology , Acute Disease , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Optic Nerve/pathology , Photography , Retrospective StudiesABSTRACT
We evaluated two patients with tuberous sclerosis (TS) and cataracts. In one, the cataract had been noted at an early age. In the second, it was noted at her first ophthalmic examination, age 31. Review of the literature indicates that although in some cases, cataract is attributable to local ocular disease, it may be a rare manifestation of TS.
Subject(s)
Cataract/complications , Tuberous Sclerosis/complications , Adult , Cataract/pathology , Child , Female , Follow-Up Studies , Humans , Lens, Crystalline/pathologyABSTRACT
We report a case of chiasmal apoplexy due to a cavernous malformation (CM). Surgery was delayed because of the patient's advanced pregnancy, and nearly complete recovery of vision occurred spontaneously. Recurrent hemorrhage prompted surgical extirpation. The patient was left with a residual deficit. The literature pertaining to chiasmal apoplexy and CMs is reviewed. Nearly half of the reported cases of chiasmal CM had recurrent hemorrhages. The co-occurrence of hemorrhage from CM and pregnancy is too rare to merit any conclusions about cause and effect.
Subject(s)
Blindness/etiology , Cerebral Arteries/abnormalities , Cerebral Hemorrhage/complications , Cerebrovascular Disorders/complications , Optic Chiasm/blood supply , Adult , Blindness/diagnosis , Blindness/physiopathology , Cerebral Hemorrhage/diagnosis , Cerebral Hemorrhage/surgery , Cerebrovascular Disorders/diagnosis , Cerebrovascular Disorders/physiopathology , Female , Humans , Magnetic Resonance Imaging , Pregnancy , Recurrence , Visual FieldsABSTRACT
OBJECTIVE: To describe two patients with mesencephalic midline clefts and associated eye movement disorders. DESIGN: Case reports. RESULTS: The first patient developed bilateral internuclear ophthalmoplegia with exotropia, reduced convergence, right ptosis, right fourth-nerve palsy, and right elevator palsy several years after meningitis with hydrocephalus. The second patient had bilateral internuclear ophthalmoplegia with exotropia, reduced convergence, bilateral ptosis, limited upward gaze, and right hypertropia since childhood. In both patients, magnetic resonance imaging showed a midline cleft extending from the cerebral aqueduct into the midbrain. CONCLUSION: It is likely that the clefts affected the oculomotor nuclei and medial longitudinal fasciculi, accounting for the eye movement disorders.
Subject(s)
Brain Diseases/complications , Eye Movements , Mesencephalon/pathology , Ocular Motility Disorders/etiology , Adult , Blepharoptosis/etiology , Brain Diseases/diagnosis , Convergence, Ocular , Exotropia/etiology , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Ophthalmoplegia/etiologySubject(s)
Optic Nerve Injuries , Eye Injuries/etiology , Eye Injuries/therapy , Humans , Optic Nerve/surgeryABSTRACT
Identification and reporting of possible cases of child physical abuse are critical precursors to intervention with maltreating families. Professionals from a variety of disciplines are mandated to report suspected cases of child maltreatment. Unfortunately, not all physically abused children are identified or reported. This paper reviews the literature that has examined factors that may influence the identification and reporting of physical abuse by physicians. The literature review is preceded by an overview of the multistep, multibehavior process of identification and reporting. The factors that may influence identification and reporting are discussed according to their association with the case, physician, or setting. Future directions for research in the area of identification and reporting are suggested throughout the paper.
Subject(s)
Child Abuse/diagnosis , Physicians , Professional Competence , Adolescent , Adult , Age Factors , Burns/diagnosis , Child , Child Abuse/legislation & jurisprudence , Child Behavior , Child, Preschool , Education, Medical , Ethnicity , Female , Humans , Infant , Male , Middle Aged , Parents , Social ClassABSTRACT
The usefulness of the Quality of Well-Being scale (QWB) in a sample of pediatric cancer patients was investigated. The parents of 30 children who were 4 to 18 years old and who were being treated for cancer, were administered the QWB. Performance status ratings from the parents and physician, toxicity ratings, treatment information, and routine laboratory values were also collected. Correlational analyses indicated that QWB scores were significantly related to ratings of performance status and that children who had experienced more surgeries and hospitalizations were assessed as more impaired on the QWB. The child's age, toxicity of treatment experience to date, and laboratory values were not significantly related to QWB findings. The potential utility of the QWB as a component of quality-of-life assessment is discussed.
Subject(s)
Neoplasms/psychology , Quality of Life , Adaptation, Psychological , Adolescent , Child , Child, Preschool , Chronic Disease , Female , Health Status , Humans , Long-Term Care , MaleABSTRACT
Pain associated with terminal illness is an extremely stressful problem for the patient as well as family members. Helping family members cope increases their effectiveness as caregivers and improves their own quality of life. Conversely, improving the patient's ability to cope decreases stress on other family members. Optimal treatment of pain in the terminally ill may be conceptualized and administered from a family perspective. Methods for helping families of terminal pain patients cope are organized around a theme of enhancing feelings of control and self-efficacy. Control over pain and related problems may be maximized by providing education, improving decision making and assertiveness skills, and by teaching specific techniques for pain and stress management, including proper analgesic use, progressive relaxation, imagery, distraction techniques, and time management. These techniques are described from a family perspective in this paper.
Subject(s)
Family/psychology , Pain/prevention & control , Terminal Care/methods , Humans , Pain/nursing , Patient Education as Topic , Patient ParticipationABSTRACT
The increase with time of the stiffness of resting muscle and its effect on afferent nerve activity arising within the muscle were investigated in the leg of the anaesthetized rat. Nerve activity was recorded from the branch of the tibial nerve innervating the gastrocnemius muscle. A sinusoidal torque from a motor coaxial with the ankle produced small (less than 0.25 deg) oscillations of the resting foot that were interrupted by several cycles of a much larger amplitude displacement. After the perturbation, the same small torque caused larger (greater than 0.40 deg) oscillations, demonstrating a reduction in the resting or short-range stiffness of muscles acting at the joint. Turning off the torque for 30 s allowed the stiffness to return to its enhanced level. Afferent nerve activity in response to the small torque was greater following the perturbation, reflecting the larger oscillations. We conclude that thixotropic stiffening of muscles at rest reduces postural displacements produced by small torques as well as the quantity of afferent signals converging on the central nervous system from these events.
