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At least 991 records · Page 55Linked to original sources
PubMed1997

[Bitemporal hemianopsia after skull base fracture].

We report a case of bitemporal hemianopsia after skullbase fracture. An 18-year-old male presented with frontal head hit due to a traffic accident. Consciousness level on admission was JCS 10. Initial CT scan revealed traumatic SAH and pneumocephalus. We treated him conservatively. Ten hours after the accident, consciousness level went down, and CT imaging disclosed bilateral frontal hemorrhage. The three dimensional CT (3D-CT) imaging showed two fracture lines from the roof of the ethmoid sinus to the planum sphenoidale. Although his consciousness improved gradually, he complained of rhinorrhea, anosmia and double vision. On preoperative visual field examination, bitemporal hemianopsia was noticed. Repair operation for CSF rhinorrhea was performed. Operative findings revealed two fracture lines corresponding to the 3D-CT scan. The optic chiasm was compressed by the tuberculum sellae. We could not find obvious tearings or stretchings of the chiasm. Reports on operative findings of traumatic chiasmal syndrome are rare, and most of the reports presume that bitemporal hemianopsia results from tearing or stretching of the chiasm. We could confirm that, in some cases, bitemporal hemianopsia could result from direct pressure of the tuberculum sellae.

Adolescent↗
PubMed1997

X-linked ichthyosis with hypogonadism: not always Kallmann's syndrome.

We describe two males with congenital ichthyosis secondary to steroid sulphatase deficiency who also manifested delayed puberty with biochemical features of hypogonadotrophic hypogonadism. In the first patient a history of cryptorchidism and the clinical findings of anosmia, micropenis and bimanual synkinesis suggested a contiguous gene syndrome, comprising X-linked Kallmann's syndrome and X-linked ichthyosis. An X-Y chromosomal translocation involving the Xp22.3 locus was identified; deletions of the STS locus and of exons 10-14 of the KAL locus were subsequently demonstrated. The second patient was euosmic and, although the STS locus was deleted in association with a pericentric inversion involving Xp22.3, no deletions were detected at the KAL locus. Clinically, he was felt to have constitutionally delayed puberty rather than hypogonadotropic hypogonadism and this diagnosis was substantiated by his subsequent development.

Adolescent↗
PubMed1998

Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene.

Kallmann syndrome is an inherited disease which is characterised by anosmia (inability to smell) and hypogonadotropic hypogonadism both of which are thought to occur as a result of a failure of correct neuronal migration. To date the only genetic lesions identified are mutations in the X-linked gene, KAL. We conducted a mutation screen of the KAL gene in a family with Kallmann syndrome. This identified a new mutation in the KAL gene which removed an acceptor site at the junction of exon 6/intron 5. Exon 6 of the KAL gene encodes the C-terminal portion of a fibronectin type III domain may be involved in axonal pathfinding. We presume that the described mutation would result in the removal of exon 6 resulting in a frame shift which terminates the protein prematurely. It has been proposed that both mental illness and vesico-ureteric reflux are associated with mutations in the KAL gene. However, results from the family presented here do not show an association between either trait and the KAL gene mutation.

Child↗
PubMed1998

[Neurological and psychosocial sequelae 4 and 8 years after severe craniocerebral injury: a catamnestic study].

Thirty-three patients (29 male, 4 male) were examined 4 and 8 years after severe head injury. The patients underwent a detailed neurological examination. A semistructured interview according to the Glasgow Assessment Schedule was administered to the patients and their relatives. Most frequent neurological features were motor deficits (55%, at both follow-up investigations, mostly monoparesis), dysarthria (39% versus 33%), ataxia (49% versus 39%) and anosmia (46% versus 33%) at 4 and 8 years, respectively. There was a slight, but not significant improvement between the 2 examinations with respect to frequency and severity of neurological impairment. There was no significant improvement in the activities of daily living and 18% remained totally dependent on other people's help. At both follow-ups 85% complained of memory deficits. 67% and 70% respectively, suffered from poor initiative and increasing irritability at the first and second examination. The patients were more socially isolated and more irritable at the second follow-up. Only 12% and 18%, respectively held the same job as they had had before the injury; nearly half of them had retired. Occupational and psychosocial reintegration appeared to be rather poor in many patients. Excessive alcohol intake prior to trauma was identified as a person-related predictive factor. In contrast to other studies we found persistent, although slight neurological deficits. In the long-term, a combination of neurological and neuropsychological deficits seems to contribute to residual handicap.

Activities of Daily Living↗
PubMed1997

[Reactive airway dysfunction syndrome and bronchiolitis obliterans after exposure to acid vapors].

A 37-year-old male non-smoker developed rapidly severe respiratory disease after a 3-hour exposure to hydrobromic acid fumes. An upper airway syndrome ensued with anosmia and aphonia as well as non-specific bronchial hyperreactivity, obstructive bronchiolitis (which led to a persistent respiratory volume of about 20% of the normal level with exercise-induced dyspnea) and obstructive bronchiolitis. Lung transplantation is currently being considered. When inhaled at irritant concentrations, certain toxic gases, such as chlorine, can lead to reflex apnea via laryngeal nerve reaction, limiting gas penetration into the bronchial tree. Other gases are cell toxins and can enter the deeper part of the lung before provoking irritating cough. This is what occurred for our patient who continued work in the polluted atmosphere until his severe cough obliged him to leave his job. This case is an example of cellular toxicity resulting from atmospheric gas fumes at low weakly-irritative concentrations, explaining the insidious nature of disease onset.

Adult↗
PubMed1998

[Case of superficial hemosiderosis of the central nervous system treated with trientine].

A 58-year-old woman, with recurrent headaches, exhibited cerebellar alaxic gait, anosmia, deafness and a pyramidal syndrome, with a progressive onset. In cerebrospinal fluid there was erythrocytes and siderophages. MRI on T2-weighted images revealed a marginal hypo-intensity, leading to the diagnostic of superficial siderosis of the central nervous system. None haemorragic lesion was found. The patient was given Trientine. Unfortunately she worsened on later examinations.

Brain↗
PubMed1998

Olfactory disorders induced by cadmium exposure: a clinical study.

The evaluation of olfaction is not only widely applied and undeniably valuable in clinical diagnostics but it is also of interest to industrial medicine. It should be borne in mind that in certain workplaces, particularly in the chemical industry, the olfactory receptor has to act as an organ which warns the worker against threatening intoxication, and this is possible only when it functions properly. Cadmium, as a highly toxic metal, found widely in industry and in the environment, is frequently included in the list of chemicals known to cause olfactory impairment. The purpose of this study was to evaluate olfaction in workers occupationally exposed to cadmium. The correlation between olfaction and concentrations of cadmium in urine, blood and in the workplace air as well as employment duration was examined in workers of the "CENTRA" S.A., an electrochemical plant in Poznań. In this plant cadmium-nickel batteries are produced, and there is chronic occupational exposure to cadmium in quantities exceeding maximum allowable concentration (MAC). A group of 73 workers aged 20 to 60 years (42.0 +/- 18.0), employed from 4 to 24 years (12.5 +/- 8.5) were examined. Of the 73 workers who completed the evaluation, 53 people (72.7%) were smokers (10-40 cigarettes per day). In addition to medical history, medical and ENT examinations, blood and urine tests were taken and olfactometry performed. Olfactometry was performed according to Elsberg and Levy's method, modified by Pruszewicz, in which natural coffee as well as aniseed, lemon and mint oils were used. The quantitative and qualitative olfactory disorders were evaluated on the basis of the established odor detection threshold (ODT) and odor identification threshold (OIT). The examinations revealed numerous cases of hyposmia (26.0%) and parosmia (17.8%) and one case of anosmia (1.4%). In the majority of people with olfactory disorders, hypertrophic changes in the nasal mucosa, dependent on the duration of employment, were identified. Statistically significant relationship between olfactory impairment and cadmium concentration in blood, urine and the workplace air was observed. However, such a relationship was not found in regard to the duration of employment. The study indicated the need to carry out routine olfactometries. The results of these examinations could be the ground to perform certain preventive and therapeutic procedures.

Adult↗
PubMed1998

Sarcoidosis with nasal obstruction and septal perforation.

Although sarcoidosis is predominantly a pulmonary disorder, it often produces disease in the head and neck. For this reason, otolaryngologists should be comfortable in evaluating and treating the disease. The diagnosis of sarcoidosis often can be made with a biopsy of conjunctival or oral mucosa, even when disease manifestations are not apparent in those parts of the body. In a case of sarcoidosis involving the nose, a 54-year-old black man had a proliferation of small lumps on the tip of his nose. For many years, he had had daily epistaxis, anosmia and severe difficulty breathing through this nose. The bridge of his nose was deformed, and he had a large anterior septal perforation. Physical examination revealed palpable bilateral cervical lymphadenopathy. Laboratory test results were, for the most part, normal; however, fine-needle aspiration of one of the cervical lymph nodes showed multiple epithelioid granulomas with interspersed lymphocyte, and an incisional biopsy of the nasal tissue was highly suggestive of sarcoidosis. Unenhanced computed tomography also revealed widespread nasal inflammation and an abnormal soft tissue mass anterior to the maxilla consistent with chronic osteomyelitis. The patient's condition dramatically improved following treatment with oral prednisone; however, he considered undergoing reconstructive surgery for the noticeable nasal septal deformity.

Biopsy, Needle↗
PubMed1998

[Long-term follow-up study with PET in a case of superficial siderosis].

Long-term follow-up study with positron emission tomography (PET) has been conducted in a patient with superficial siderosis for ten years. A 63-year-old right-handed woman began to exhibit a cerebellar ataxia when she was 52 years old. Thereafter she has been exhibiting a slowly progressive course of pyramidal signs, hearing loss, anosmia, bilateral sciatica and memory disturbance in addition to the cerebellar ataxia. Series of x-ray CT and MRI disclosed a progressive atrophy of the cerebellum, specifically in the superior vermis, and a mild diffuse atrophy in the cerebral hemispheres, whereas no significant atrophy was seen in the brainstem. A marked hypointensity was seen along the rim of the brain structures including brainstem, cerebellum, sylvian fissures and the medial temporal lobes on MR T 2-weighted images. This hypointensity was also found at the edges of the third and fourth ventricles. These findings were regarded as haemosiderin deposit. By using oxygen-15, PET was carried out repeatedly with ten-year interval. In the initial PET study, both cerebral blood flow (CBF) and cerebral metabolic rate of oxygen (CMRO2) were mildly decreased in the cerebellar hemispheres and the occipital cortices. The follow-up PET study revealed a progressive reduction of CMRO2 in the brainstem, cerebellar hemispheres and temporal cortices including the hippocampus in which the haemosiderin deposition was marked on MRI, whereas the reduction of CBF was not advanced as compared with CMRO2. It was suggested that the progressive reduction of CMRO2 in the brain sites where the haemosiderin deposition was observed on MRI reflected the clinical course of neurological deterioration.

Brain↗