Intussusception of the vermiform appendix: a preoperative diagnosis in an adolescent girl

Intussusception of the vermiform appendix (IVA) in a 14-year-old girl is reported. The diagnosis was made preoperatively, which is rare: only five other cases have been reported. IVA can present with variable symptoms. This patient presented with episodes of recurrent severe paroxysmal pain and vomiting, each episode being separated by several uneventful weeks. The diagnosis of IVA could be made at the fourth attack of colic by the radiological visualization of a "spiral shell" filling defect at the bottom of the cecum that was reducible by intravenous injection of a spasmolytic. Laparotomy with appendectomy rescued the patient from these distressing episodes. Although IVA is an uncommon condition, one should be aware of its existence and include it in the differential diagnosis of acute abdominal syndromes. When confronted with a clinical picture of intussusception in older children or adolescents, one should especially remember this entity as a differential diagnosis with other causes of intussusception, especially tumors.     

Bilateral Coats' disease with unusual presentation--a case report

Coats' disease is a well-known ocular disorder, characterized by idiopathic retinal telangiectasia, retinal exudation and retinal detachment. We report on a boy who first presented at the age of 2 years with Coats' disease and secondary neovascular glaucoma. The differential diagnosis with retinoblastoma could not be made clinically or with the help of imaging studies, such as ultrasonography or computed tomography scanning (CT-scan). The right eye was consequently enucleated for diagnostic and therapeutical purposes. Histopathologic examination confirmed the diagnosis of Coats' disease. Five years later the same boy consulted again with profound visual loss in his only functional left eye. Fundoscopy revealed lesions typical for Coats' disease. Coats' disease can present in very different ways and bilateral disease is possible, even after several years.     

Unilateral Peters' anomaly in a patient with DiGeorge syndrome

We report a case of unilateral Peters' anomaly in a 3-month-old infant with a microdeletion in chromosome 22q11.2, a finding not previously described. This anterior segment anomaly can be explained by a problem in neural crest development, as neural crest cells are known to play a role in the developmental defects of this disorder.     

Empty sella, growth hormone deficiency and pseudotumour cerebri: effect of initiation, withdrawal and resumption of growth hormone therapy

An 11- year-old boy with normal visus and eye fundus, but with empty sella, growth hormone (GH) deficiency and central diabetes insipidus was found to have intracranial hypertension with papilloedema after 6 months of catch-up growth under recombinant human GH (rhGH) replacement therapy. Withdrawal of rhGH therapy was associated with normalisation of intra‐cranial?pressure within 1 week. Three months later, resumption of rhGH therapy at a lower dose was again followed by pronounced growth acceleration, but now without papilloedema. Conclusion?Children with empty sella and GH deficiency may be prone to rhGH-induced pseudotumour cerebri which appears to be rapidly reversible and dose-dependent.     

Lack of dystrophin but normal calcium homeostasis in smooth muscle from dystrophic mdx mice

Summary The free cytosolic Ca²⁺ concentration ([Ca²⁺]_i) in the dystrophin-lacking smooth muscle from mdx mice was studied to gain new insights into the relation between dystrophin and cytoplasmic Ca²⁺ hoemostasis, which was reported to be impaired in the mdx skeletal muscle. We observed that [Ca²⁺]_i, as measured with the fluorescent Ca²⁺ indicator fura-2, was not elevated in resting smooth muscle of the vas deferens from mdx mice, in comparison with control C57 mice. Changes of the external Ca²⁺ concentration evoked similar changes of [Ca²⁺]_i in mdx and control vas deferens. During contraction, cytosolic Ca²⁺ transients were identical, both in amplitude and in kinetics, whether or not dystrophin was present. Stretches evoked similar Ca²⁺ increases in muscles from both strains. Intracellular Ca²⁺ homeostasis appears to be unimpaired in mdx smooth muscle. Thus, the lack of dystrophin per se does not automatically induce a perturbation of Ca metabolism in muscle cells.     

Childhood neuroborreliosis: clinicoradiological correlation

We report the cranial CT and MRI findings in three children with Lyme disease (neuroborreliosis). The neuroimaging findings in children have been rarely reported. We found cranial MRI far superior to cranial CT. Ring-enhancing lesions have been described in acute disseminating encephalomyelitis and multiple sclerosis but not in neuroborreliosis. Although orther infectious and inflammatory diseases cannot be excluded, Lyme disease should be included in the differential diagnosis and put forward as being the most likely diagnosis in the appropriate clinical setting. Gadopentetate dimeglumine is helpful in assessing the response to antibiotic treatment.     

Non-invasive imaging of neuropathology in a rat model of alpha-synuclein overexpression

Parkinson's disease is a neurodegenerative disorder affecting the dopaminergic neurons in the substantia nigra. Aggregation of alpha-synuclein appears to play a central role in the pathogenesis. Novel animal models for neurodegeneration have been generated by lentiviral vector-mediated locoregional overexpression of disease-associated genes in the adult brain. We have used lentiviral vectors to overexpress a clinical mutant of alpha-synuclein, A30P, in the rat substantia nigra. This overexpression induced time-dependent cytoplasmic and neuritic accumulation of alpha-synuclein and neurodegeneration. A subgroup of the rats developed asymmetric rotational behavior after administration of amphetamine. In addition, these animals displayed reduced dopamine transporter binding visualized by 123I-FP-CIT microSPECT imaging. The behavioral and microSPECT data were validated by histological analysis. There was a strong correlation between the reduction of dopaminergic neurons in the substantia nigra and the reduction of dopamine transporter binding in the striatum. MicroSPECT imaging enables non-invasive imaging of the neurodegeneration allowing longitudinal follow-up in this new animal model for Parkinson's disease and the evaluation of neuroprotective drugs.