Subject(s)
Antidepressive Agents, Tricyclic/adverse effects , Mianserin/analogs & derivatives , Stevens-Johnson Syndrome/chemically induced , Adult , Antidepressive Agents, Tricyclic/therapeutic use , Depression/drug therapy , Humans , Male , Mianserin/adverse effects , Mianserin/therapeutic use , Mirtazapine , Patch Tests , Stevens-Johnson Syndrome/diagnosis , Stevens-Johnson Syndrome/pathologyABSTRACT
Spontaneous CSF rhinorrhoea, secondary to trauma in the great majority of cases, is very rare (3-4%). The authors report a case of spontaneous CSF rhinorrhoea secondary to an ethmoidal osteodural defect, diagnosed by digital cisternography and confirmed by the surgical operation. The value of digital opaque cisternography and its place in the diagnostic arsenal are discussed.
Subject(s)
Cerebrospinal Fluid Rhinorrhea/diagnostic imaging , Ethmoid Bone/abnormalities , Pneumoencephalography/methods , Cerebrospinal Fluid Rhinorrhea/surgery , Ethmoid Bone/diagnostic imaging , Ethmoid Bone/surgery , Female , Humans , Middle Aged , Tomography, X-Ray ComputedSubject(s)
Auditory Perceptual Disorders/diagnostic imaging , Deafness/diagnostic imaging , Evoked Potentials, Auditory , Tomography, X-Ray Computed , Adolescent , Adult , Aged , Auditory Perceptual Disorders/physiopathology , Deafness/physiopathology , Decision Trees , Female , Humans , Male , Middle Aged , Retrospective StudiesSubject(s)
Otosclerosis/epidemiology , Population Surveillance , Acoustic Impedance Tests , Adolescent , Adult , Age Distribution , Child , Consanguinity , Female , Humans , Incidence , Male , Middle Aged , Otosclerosis/diagnosis , Otosclerosis/etiology , Residence Characteristics , Risk Factors , Sex Distribution , Tunisia/epidemiology , Urban PopulationABSTRACT
Non-syndromic, recessively inherited deafness is the most predominant form of severe inherited childhood deafness. Until now, no gene responsible for this type of deafness has been localized, due to extreme genetic heterogeneity and limited clinical differentiation. Linkage analyses using highly polymorphic microsatellite markers were performed on two consanguineous families from Tunisia affected by this form of deafness. The deafness was profound, fully penetrant and prelingual. A maximum two-point lod score of 9.88 (theta = 0.001) was found with a marker detecting a 13q locus (D13S175). Linkage was also observed to the pericentromeric 13q12 loci D13S115 and D13S143. These data map this neurosensory deafness gene to the same region of chromosome 13q as the gene for severe, childhood autosomal recessive muscular dystrophy.
Subject(s)
Chromosomes, Human, Pair 13 , Deafness/genetics , Child , Chromosome Mapping , Consanguinity , Female , Genes, Recessive , Genetic Linkage , Genetic Markers , Humans , Lod Score , Male , Muscular Dystrophies/genetics , Pedigree , TunisiaABSTRACT
The frequency of otosclerosis has been estimated to be 0.6 per 100 inhabitants in a population living in the North of Tunisia. The sex ratio in probands is 0.73 with clinical otosclerosis being approximately twice as frequent in females than in males, an observation which could be due to hormonal factors. The main risk period for otosclerosis is between 25 and 35 years of age in both sexes. Segregation analysis was performed in 193 nuclear families belonging to 65 pedigrees of otosclerosis. The pattern of the disease is due to a rare dominant major gene with a high polygenic component. This finding was unexpected since otosclerosis is usually considered to be a disease with simple dominant inheritance and incomplete penetrance. The authors have estimated that only 13% of affected patients are carriers of the rare dominant gene. This gene has strong penetrance which, however, varies according to age and sex.
Subject(s)
Otosclerosis/genetics , Adolescent , Adult , Age Factors , Child , Female , Gene Frequency/physiology , Humans , Incidence , Male , Meiosis/genetics , Middle Aged , Otosclerosis/epidemiology , Risk Factors , Sex Ratio , Tunisia/epidemiologyABSTRACT
An epidemiological and genetic study of profound deafness has been undertaken in the governorate of Nabeul in Tunisia. This paper deals with sensorineural deafness with no associated abnormalities. The prevalence was estimated to be 0.0007 and four clusters could be identified, two of which represent 51% and 34% respectively of the total number of cases. Segregation analysis performed in 29 pedigrees containing 415 subjects with 129 affected cases provided evidence for simple recessive inheritance with no sporadic cases.
Subject(s)
Deafness/genetics , Cluster Analysis , Consanguinity , Deafness/congenital , Deafness/epidemiology , Female , Humans , Male , Pedigree , Prevalence , Tunisia/epidemiologyABSTRACT
Two children presented with congenital deafness from internal ear malformations of the Mondini type which had provoked recurrent attacks of meningitis due to foot of stapes fistulae. Good results were obtained after vestibular plugging. Anatomical pathways taken by the fistulae are described and certain important points emphasized.
Subject(s)
Deafness/congenital , Ear, Inner/abnormalities , Meningitis/etiology , Child , Deafness/surgery , Female , Humans , Infant , Male , Meningitis/therapy , Recurrence , Syndrome , Vestibule, Labyrinth/surgeryABSTRACT
The authors report two cases of papillary carcinoma of a thyreoglossal duct cyst. In both cases, the thyroïd gland was normal. Clinical manifestations are not specific and the diagnosis is usually made by histopathologic examination which reveals in the majority of cases a papillary carcinoma. When loco-regional or metastatic extension are absent surgical excision of the cyst is sufficient.
Subject(s)
Carcinoma, Papillary/pathology , Thyroglossal Cyst/pathology , Adult , Carcinoma, Papillary/diagnosis , Carcinoma, Papillary/surgery , Female , Humans , Thyroglossal Cyst/diagnosis , Thyroglossal Cyst/surgeryABSTRACT
A 40 year old woman presented with a meningioma of the intratympanic region, a very rare localization which raises problems of differential diagnosis from jugular glomus tumors. A brief historical survey and complete etiopathogenic study are presented, and clinical features and results of complementary examinations, particularly angiography and computed tomography, are described. Treatment is exclusively surgical and diagnosis is confirmed with certitude by histopathology only.
Subject(s)
Ear Neoplasms/diagnosis , Ear, Middle , Meningioma/diagnosis , Adult , Ear Neoplasms/etiology , Female , Humans , Meningioma/etiologySubject(s)
Deafness/rehabilitation , Education, Special , Adolescent , Child , Child, Preschool , Deafness/etiology , Deafness/psychology , Female , Humans , Infant , Language Development , Male , TunisiaABSTRACT
Results of early auditory evoked potentials, recorded during exploration of spinocerebellar heredodegenerative lesions (21 cases of Friedreich's disease, 8 cases of Pierre-Marie's disease and 3 cases of Strumpell-Lorraine disease), are analyzed. Tracings showed alteration of auditory BER whereas tonal audiometry was normal. Analysis of BER demonstrated lengthening of the latency periods, a rise in thresholds without latency period increases and a tracing that was sometimes flat or with waves that were difficult to recognize.
Subject(s)
Cerebellar Diseases/physiopathology , Evoked Potentials, Auditory , Adolescent , Adult , Cerebellar Ataxia/physiopathology , Child , Female , Friedreich Ataxia/physiopathology , Humans , Male , Muscle Spasticity/genetics , Paraplegia/genetics , Time FactorsSubject(s)
Digestive System , Foreign Bodies/therapy , Respiratory System , Adolescent , Child , Child, Preschool , Female , Humans , Infant , MaleSubject(s)
Fibroma/diagnosis , Maxillary Sinus , Osteoma/diagnosis , Paranasal Sinus Neoplasms/diagnosis , Adolescent , Adult , Female , Humans , Male , Maxillary Sinus/diagnostic imaging , RadiographyABSTRACT
Auditory and vestibular function tests were conducted in 16 patients with Behcet's disease. Vestibular lesions included spontaneous nystagmus in 5 cases, and a bilateral vestibular syndrome after provoked tests in 13 cases (7 of the deficiency type and 6 irritative in nature). Findings after auditory tests were bilateral symmetric deafness in 2 cases; one of the perception type and the other showing mixed features. Various etiopathogenic theories are discussed. The possibility of a bilateral central lesion of the VIIIth nerve was also considered, 8 patients in the series having cerebral manifestations, particularly as the results of visual fixation tests in these cases were in favor of this hypothesis.
