ABSTRACT
Confusion among physicians and patients is increasing regarding the diagnosis and treatment ofLyme borreliosis due to the enormous amount ofambiguous information available and media attention. Some of the dilemmas that physicians encounter are illustrated by 3 patients with a range of symptoms, one of whom was convinced she had Lyme borreliosis. However none of these patients had significant evidence that suggested Lyme borreliosis. Physicians should follow the guidelines developed by the Dutch Institute for Health Care Improvement (CBO) or the Infectious Diseases Society of America rather than 'alternative' guidelines, which are not evidence-based.
Subject(s)
Lyme Disease/diagnosis , Practice Guidelines as Topic , Tick-Borne Diseases/diagnosis , Adolescent , Adult , Child , Diagnosis, Differential , Evidence-Based Medicine , Female , Humans , Lyme Disease/drug therapy , Practice Patterns, Physicians' , Tick-Borne Diseases/drug therapyABSTRACT
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q in various families. The aim of this study was to identify the responsible locus in four unrelated Dutch families with BFIC. Two of the tested families had pure BFIC; in one family, affected individuals had BFIC followed by paroxysmal kinesigenic dyskinesias at later age, and in one family, BFIC was accompanied by later-onset focal epilepsy in older generations. Linkage analysis was performed for the known loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q. The two families with pure BFIC were linked to chromosome 16p12-q12. Using recombinants from these and other published families, the chromosome 16-candidate gene region was reduced from 21.4 Mb (4.3 cm) to 2.7 Mb (0.0 cm). For the other two families, linkage to any of the known loci was unlikely. In conclusion, we confirm the linkage of pure BFIC to chromosome 16p12-q12, with further refinement of the locus. Furthermore, the lack of involvement of the known loci in two of the families indicates further genetic heterogeneity for BFIC.
Subject(s)
Chromosomes, Human, Pair 16 , Epilepsy, Benign Neonatal/genetics , Chromosome Mapping , Genetic Linkage , Genetic Markers , Genotype , Haplotypes , Humans , Lod Score , PedigreeABSTRACT
Three patients, men aged 62, 57 and 44 years, had suffered for 6-24 months from low back pain, which after an acute moment had worsened with pain radiating to one leg. In all 3 patients, a neurological cause was considered first, but investigations revealed that they had a large abdominal aortic aneurysm (AAA) resulting in emergency surgery. The oldest man died from late complications; the younger men made a good recovery. An AAA should be considered in patients with low back pain and risk factors such as male gender, older age, cigarette smoking, hypertension and previous manifestations of vascular disease. Making the diagnosis as early as possible can be lifesaving.
Subject(s)
Aortic Aneurysm, Abdominal/diagnosis , Back Pain/diagnosis , Adult , Aortic Aneurysm, Abdominal/complications , Aortic Aneurysm, Abdominal/surgery , Back Pain/etiology , Diagnosis, Differential , Fatal Outcome , Humans , Male , Middle Aged , Postoperative Complications , Risk Factors , Treatment OutcomeABSTRACT
Two boys, aged 2 and 11 years, presented with fever and muscle weakness that resulted in respiratory insufficiency. A physical examination and additional tests confirmed the diagnosis 'myasthenia'. Acetyl cholinesterase-inhibitor therapy had a favourable effect. Myasthenia is a diagnosis that should be considered for every child presenting with muscle weakness of unknown origin.
Subject(s)
Cholinergic Antagonists/therapeutic use , Myasthenia Gravis/diagnosis , Myasthenia Gravis/drug therapy , Receptors, Cholinergic/immunology , Child , Child, Preschool , Diagnosis, Differential , Fever , Humans , Male , Muscle Weakness , Myasthenia Gravis/complications , Netherlands , Neurologic Examination , Respiratory Insufficiency/etiologyABSTRACT
Four children aged 2.5 years, 15.7 and 7 months, including a pair of twins, after birth displayed hypotonia which necessitated tube feeding. Other features were a narrow forehead and a thin triangular upper lip, but these abnormalities were not conspicuous. An extensive supplementary examination for cerebral and muscular disorders initially failed to produce a diagnosis. It was only when the Prader-Willi syndrome was suspected and a corresponding abnormality on chromosome 15 was looked for that this diagnosis could be made. Early diagnosis of this syndrome will avoid further invasive diagnostic procedures and make early treatment possible.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, Pair 15 , Prader-Willi Syndrome/diagnosis , Child, Preschool , Chromosome Disorders , DNA/isolation & purification , Female , Humans , Infant , Male , Prader-Willi Syndrome/geneticsABSTRACT
Infants and children with achondroplasia are at increased risk of sudden death because of apneic attacks caused by compression of the medulla oblongata or spinal cord by a constricted foramen magnum or narrow upper cervical spinal canal. This history of an infant with achondroplasia is discussed. As a result of apneic attacks she developed severe brain damage. Cervicomedullary compression was revealed at CT-scan and NMRI of the basicranium and upper cervical canal, and confirmed at decompressive surgery. Early symptoms can be clues to the existence of cervicomedullary compression. These clues are indication for further investigations. Decompressive surgery has good results when performed at an early stage. Knowledge of the signs and symptoms of cervicomedullary compression and of factors which increase the risk of complications are important in the management of achondroplastic patients.
Subject(s)
Achondroplasia/complications , Apnea/etiology , Atrophy , Brain/pathology , Female , Humans , Infant , Life Expectancy , Magnetic Resonance Imaging , Muscle Hypotonia/complicationsABSTRACT
A randomized double-blind cross-over study was performed to compare the efficacy of Tizanidine to that of placebo in the treatment of spasmodic torticollis. No evidence was found that Tizanidine was effective in 10 patients with spasmodic torticollis who received Tizanidine during 6 weeks, up to a dose of 12 mg a day.
Subject(s)
Clonidine/analogs & derivatives , Torticollis/drug therapy , Adolescent , Adult , Aged , Clinical Trials as Topic , Clonidine/administration & dosage , Clonidine/therapeutic use , Dose-Response Relationship, Drug , Double-Blind Method , Electromyography , Female , Humans , Male , Middle AgedABSTRACT
Muscle biopsy specimens from 14 patients with Becker-type muscular dystrophy were analyzed to investigate possible neurogenic factors underlying the histopathological changes. Group atrophy, pyknotic nuclear clumps, and angular small fibers were seen respectively in 71%, 85%, and 100% of the cases. In one biopsy specimen, notable type grouping was observed. A prominent finding was the appearance of groups of regenerating fibers in biopsy specimens from younger patients. Fiber degeneration was present in only 57% of the cases. While myopathic features predominated in some biopsy specimens, others were compatible with denervation. It is not possible to give an answer to the question whether the changes are basically myopathic or neurogenic (or both), but evidence is growing that a neurogenic component may play a part in the pathogenesis of the disease.
