Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis.
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Adult↗
Biomedical subjects
A Rufa
Publications and source records attributed to A Rufa.
Typical pathological changes of CADASIL in the optic nerve.
Visual impairment due to retinal and optic nerve changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is more common than previously thought. Deposits of granular osmiophilic material (GOM) have been shown in the wall of retinal arterioles, though retinal infarcts and vascular occlusions have never been reported. Ischaemic optic neuropathy, on the other hand, has been reported in one case of CADASIL but no pathology reports of the optic nerve have been published. Here we report optic nerve morphological findings in the autopsy material of a 41-year-old woman with genetically assessed CADASIL. Longitudinal and transverse sections of optic nerves were examined. Classical histological methods (haematoxylin-eosin and Nissl) were performed. Diffuse pallor of myelin and rarefaction of optic nerve fibres were observed. Classical GOM was evident in the tunica media of vessels in the meninges and white matter. Arteriole lumina were slightly narrowed. In conclusion, the typical pathological changes of CADASIL occur in the optic nerve and may contribute to impairment of visual function in CADASIL.
Adult↗
Video-based eye tracking: our experience with Advanced Stimuli Design for Eye Tracking software.
We present an independent, flexible, and easily programmable software program for generating a wide set of visual stimuli paradigms in eye-movement studies. The software, called ASTIDET (Advanced Stimuli Design for Eye Tracking), has been interfaced in real time with a high speed video-based eye tracking system in order to obtain a reliable measurement of saccades. Two saccadic paradigms have been tested (gap and memory guided tasks) in 10 normal subjects. The preliminary results confirm that ASTIDET is a user-friendly software and can be interfaced with a video-based eye-tracking device in order to obtain reliable measurement of saccades.
Equipment Design↗
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
Wilson's disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of the disease and arylsulfatase A pseudodeficiency.
Adenosine Triphosphatases↗
Retinochoroidal atrophy in two adult patients with Angelman syndrome.
We describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11-13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due to loss of function of one copy of P gene involved in maternal deletion. The loss of one copy of the same gene of paternal origin leads to a similar ocular phenotype as in Prader-Willi syndrome (PWS). However to our knowledge, RCA has never been described before in PWS, suggesting that other maternally expressed genes, particularly UBE3A, could be responsible for the retinal changes observed in the adult AS phenotype. Although, further investigations would be necessary to better understand the role of the UBE3A in the retina, the findings reported here should prompt a systematic ophthalmologic evaluation adult patients with AS in order to establish the real incidence of RCA and prevent further disability in these patients.
Adult↗
Genetic leukoencephalopathies with unknown metabolic pathogenesis.
The authors describe the principal forms of genetic leucodystrophies with unknown metabolic pathogenesis, indicating their main clinical signs and the new findings concerning the molecular genetic that are useful for the laboratory confirmation of the clinical suspicion.
Demyelinating Diseases↗
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings.
Cerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease involving lipid metabolism. The classical phenotype is characterized by neurological dysfunction, tendon xanthomas and juvenile cataracts. Other ophthalmological findings have occasionally been reported. To gain more insight into the type and frequency of ophthalmological alterations in this multisystem metabolic disorder, we examined 13 CTX patients. Besides cataracts, found in all cases, the second most frequent ocular abnormality was paleness of the optic disk, which was found in 6 patients and was probably previously underestimated. Signs of premature retinal senescence were also observed. We discuss the possible relation between these ocular manifestations and the metabolic defect.
Adult↗
MR brain imaging of fucosidosis type I.
SUMMARY: Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. We report MR imaging findings of the brain of three patients with fucosidosis type I, including previously unreported findings, to expand the knowledge of the neuroradiologic spectrum of the disease.
Atrophy↗
Type I sialidosis: a clinical, biochemical and neuroradiological study.
We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.
Adult↗
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.
We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia. Analysis of the WD gene showed that the patient is a compound heterozygote, carrying the 14His1069Gln mutation from the father and the 8Gly710Ser mutation from the mother. The 8Gly710Ser is a mutation described previously only in a Swedish patient. Our patient is also homozygous for arylsulfatase A pseudodeficiency. This genetic defect, which has been reported in association with other neuropsychiatric syndromes, has not been described in WD.
Adult↗
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778.
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Ethambutol↗
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.
Autosomal dominant chronic progressive external ophthalmoplegia (AdPEO) is a muscle mitochondrial disorder due to multiple large scale rearrangements of the mitochondrial DNA. This disorder is probably due to a nuclear defect which causes genetic instability or an impairment in the replication of mitochondrial DNA. X-linked ichthyosis (XLI) is a skin disorder caused by a deletion in the steroid-sulphatase gene. Here we report the clinical, biochemical, morphologic and molecular genetic findings in a patient affected by both AdPEO, inherited by the father, and steroid-sulphatase-deficiency, inherited by the mother. The association in the same patient of the two inherited diseases is merely casual and does not seem to influence the phenotypic expression of the two diseases.
Aged↗
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case.
Myasthenia gravis and mitochondrial myopathy may present with similar clinical symptoms as inconstant palpebral ptosis, ophthalmoparesis, and muscle weakness. A few case initially diagnosed as myasthenia gravis by a positive decremental response on EMG and successful anticholinesterase therapy revealed to be affected by mitochondrial disease. We report a new case initially found to be affected by myasthenia gravis in whom muscle biopsy, performed because of symptom worsening, disclosed a mitochondrial myopathy. It is not clear if the association of mitochondrial myopathy and myasthenia gravis is coincidental or if there is a pathogenic link between the two pathologies. We suggest that muscle biopsy should be performed in cases with atypical myasthenia gravis signs.
Aged↗