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At least 415 records · Page 23Linked to original sources
PubMed2000

Post-traumatic olfactory dysfunction.

OBJECTIVES: This study demonstrates histopathologic and immunocytochemical changes in the olfactory bulb of a patient with post-traumatic olfactory dysfunction. These results are analyzed in light of current understanding of the pathophysiology of anosmia and dysosmia following head trauma. Emphasis is placed on potential mechanisms of human regeneration and recovery. STUDY DESIGN: The current study documents the history of a patient with the initial complaint of complete anosmia following minor head trauma. Two months after the injury the patient developed persistent, severe dysosmia with debilitating weight loss. Neurosurgical treatment, including removal of the olfactory bulbs and tracts, resulted in permanent resolution of dysosmia. METHODS: Histopathologic and immunocytochemical analysis of the olfactory bulbs was undertaken and compared with age-matched control tissue. RESULTS: Pathological analysis of the olfactory bulb revealed a marked reduction in the number of nerve processes with few intact olfactory glomeruli compared with an age-matched control. Specific immunohistochemical staining for the olfactory neuron-specific protein OMP, however, demonstrated the presence of intact axonal projections between the olfactory mucosa and the bulb. CONCLUSIONS: These results support the hypothesis that post-traumatic anosmia involves, at least in part, damage to peripheral olfactory nerve fibers with histological changes in the olfactory bulb. Potential mechanisms for the development of post-traumatic dysosmia are also discussed.

Adult↗
PubMed2005

Utility of a three-item smell identification test in detecting olfactory dysfunction.

OBJECTIVE: Physicians rarely assess smell function, largely because of time considerations. Therefore, there is clinical need for very brief cranial nerve I screening tests. Although a few such tests exist, none have been adequately validated. The goal of this study was to empirically assess the utility of a three-item microencapsulated odor identification test in detecting olfactory dysfunction. SETTING: Smell and taste center at a university medical center. METHODS: The test was administered to 224 consecutive patients (98 men and 126 women ranging in age from 15-88 years). As part of their overall assessment, the well-validated 40-item University of Pennsylvania Smell Identification Test (UPSIT) was also administered. Sensitivity, specificity, and both negative and positive predictive values of the three-item test were established relative to UPSIT dysfunction categories. Test-retest reliability was determined in a subset of 39 patients. RESULTS: The three-item test was abnormal in 99% (67/68) of patients with anosmia, 85% (35/41) of those with severe microsmia, 76% (31/41) of those with moderate microsmia, and 50% (17/34) of those with mild microsmia. Of the 40 normosmic patients, 62.5% (25/40) correctly identified all odors, 25% (10/40) two odors, and 12.5% (5/40) one odor. None of the normosmic patients missed all three items. Using a cut-off score of 2, the test's sensitivity and specificity were 99% and 40%, respectively, for detecting total anosmia. The corresponding negative and positive predictive values were 98% and 43%. For detecting anosmia and severe microsmia, these values were 93%, 45%, 88%, and 63%. For detecting any olfactory pathology, they were 82%, 63%, 42%, and 91%. The test-retest reliability was 0.87. CONCLUSION: The brief three-item test used in this study was found to be highly sensitive in identifying olfactory loss in patients with chemosensory complaints, particularly those with severe dysfunction. Although only moderately specific, its high reliability and negative predictive value suggests it may be an appropriate screening test for olfactory loss.

Adolescent↗
PubMed1993

Kallmann syndrome in two sisters with other developmental anomalies also affecting their father.

The classical features of Kallmann syndrome with anosmia and hypogonadotropic hypogonadism were observed in two sisters aged 13 and 19. They had additional malformations including anosmia, bilateral vesico-ureteral reflux and unilateral hearing loss. One of the girls had unilateral coloboma of the optic nerve. The father had unilateral hearing loss and duplication of the left ureter; he died of an unrecognized coarctation of the aorta. He had no clinical signs of hypogonadism or anosmia. It is suggested that the malformations observed in these patients may be due to a dominant inherited defect of embryonic cell migration, resulting in different phenotypic expressions within the same family, including the Kallmann syndrome.

Adolescent↗
PubMed1993

Histopathology of olfactory mucosa in Kallmann's syndrome.

Olfactory mucosa was harvested by intranasal biopsy from a man with Kallmann's syndrome in whom the absence of the olfactory bulbs was documented by magnetic resonance imaging. On electron microscopic examination, several pathologic changes were evident in the olfactory mucosa. First, most olfactory neurons lacked cilia (ie, were morphologically immature). Second, the fila olfactoria had fewer than the normal number of axons, and a large proportion of them were apparently undergoing electron lucent degeneration. Finally, neuromatous collections of axons were seen superficial to the basement membrane in the epithelium. Similar changes have been observed in the mucosa of experimentally bulbectomized rodents. Accordingly, a constellation of pathologic changes--axonal degeneration, neuronal immaturity, and the formation of intraepithelial neuromas--seems to be characteristic of olfactory mucosa that cannot innervate the olfactory bulb in both humans and animals. On the basis of our observations, it is worth investigating the status of the olfactory bulb in other forms of human anosmia in which similar morphological changes are observed in the mucosa, such as persistent posttraumatic anosmia and isolated congenital anosmia.

Adult↗
PubMed1996

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

Despite recent advances in the understanding of the pathophysiology of Kallmann's syndrome (KS), the patterns of inheritance in the majority of cases of GnRH deficiency in human subjects remain unclear. To define further the genetic and phenotypic variability of this syndrome, detailed family histories were reviewed in 106 cases of GnRH deficiency with or without anosmia [i.e. KS or idiopathic hypogonadotropic hypogonadism (IHH)]. The great majority of cases appeared to be sporadic, with only 19 probands (18%) having at least 1 family member with GnRH deficiency. However, of the families in which the proband was the sole member affected by KS or IHH, 9 had individuals with isolated anosmia, and 8 had a strong history of delayed puberty. If these phenotypes were considered as alternative manifestations of the same genetic defect that presented as KS or IHH in the proband, 34% of the cases in the present series could be considered familial. In these families, the most likely modes of transmission were assessed in several ways, including analysis of probands with KS as a distinct subset, and separate determinations based upon whether the phenotypes of isolated anosmia and/or delayed puberty were considered relevant to the inheritance of KS or IHH. The proportion of familial cases that could be attributable to an X-linked mode of inheritance was no greater than 36% in any of these analyses. We conclude that 1) most cases of GnRH deficiency in humans are sporadic and, thus, could represent new mutations; 2) the X-linked form is the least common among familial cases of KS or IHH; 3) defects in at least two autosomal genes can results in GnRH deficiency; and 4) associated clinical defects may well represent clues to the nature and/or location of these autosomal genes.

Female↗
PubMed2001

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

Kallmann syndrome (KS) consists of congenital, isolated, idiopathic hypogonadotropic hypogonadism (IHH) and anosmia. The gene responsible for the X-linked form of KS, KAL, encodes a protein, anosmin, that plays a key role in the migration of GnRH neurons and olfactory nerves to the hypothalamus. In addition to X-linked pedigrees, autosomal dominant and recessive kindreds with KS have been reported. The relative importance of these autosomal vs. X-linked genes in producing KS, and the frequency of KAL mutations, are currently unknown because these are rare disorders and large series are unusual. We examined 101 individuals with IHH (+/- anosmia) and their families to determine their modes of inheritance, incidence of mutations in the coding sequence of KAL, genotype-phenotype correlations, and [in a subset (n = 38)] their neuroendocrine phenotype. Of the 101 patients, 59 had true KS (IHH + anosmia/hyposmia); whereas, in the remaining 42, no anosmia was evident in the patients or their families. Of the 59 KS patients, 21 were familial, whereas 38 were sporadic cases. Mutations in the coding sequence of KAL were identified in only 3 of 21 familial cases (14%) and 4 of 38 (11%) of the sporadic cases. Of the X-linked cases confirmed by mutational analysis, only 1 of 3 pedigrees appeared X-linked by inspection whereas the other 2 contained only affected brothers. Female members of known KAL mutation families (n = 3) exhibited no reproductive phenotype and were not anosmic, whereas families with anosmic women (n = 3) were not found to carry mutations in KAL. Mutations were uniformly absent in nonanosmic IHH probands (n = 42), as well as in families with both anosmic and nonanosmic members (n = 2). Overall, 4 novel mutations were identified (C172R, R191x, R457x, and delC@L600). With respect to neuroendocrine phenotype, KS men with documented KAL mutations (n = 8) had completely apulsatile LH secretion, whereas those with autosomal modes of inheritance demonstrated a more variable spectrum with evidence of enfeebled (but present) GnRH-induced LH pulses. Our conclusions are: 1) Confirmed mutations in the coding sequence of the KAL gene occur in the minority of KS cases, i.e. only 14% of familial and 11% of sporadic cases; 2) The majority of familial (and presumably sporadic) cases of KS are caused by defects in at least two autosomal genes that are currently unknown; 3) Obligate female carriers in families with KAL mutations have no discernible phenotype; 4) KAL mutations are uniformly absent in patients with either normosmic IHH or in families with both anosmic and nonanosmic individuals; and 5) Patients with KAL mutations have apulsatile LH secretion consistent with a complete absence of GnRH migration of GnRH cells into the hypothalamus, whereas evidence of present (but enfeebled) GnRH-induced LH pulses may be present in autosomal KS cases. Taken together, these findings suggest that autosomal genes account for the majority of familial cases of KS, and that unique neuroendocrine phenotypes consistent with some GnRH neuronal migration may exist in these patients.

Adult↗
PubMed1999

Loss of function mutations of the GnRH receptor: a new cause of hypogonadotropic hypogonadism.

The association of hypogonadotropic hypogonadism with anosmia defines Kallmann's syndrome. The gene of the X-linked form of this syndrome has been cloned and several mutations described. However, the relatively small number of hypogonadotropic hypogonadic patients with Kallmann's gene defects supports the hypothesis that other genes may be involved. Idiopathic hypogonadotropic hypogonadism (IHH) is not associated with anosmia. The GnRH gene was excluded as a candidate gene in IHH since no abnormality was found in several patients. The action of the GnRH is mediated through a G-protein coupled receptor present in the cell membrane of gonadotropes. The GnRH receptor was thus another candidate gene. Recently, we described the first patient with partial hypogonadotropic hypogonadism without anosmia caused by loss of function mutations of the GnRH receptor. We compare this first family with a new family presenting complete hypogonadotropic hypogonadism and a variable degree of gonadotrope deficiency in the affected kindred, and discuss genotype-phenotype correlation.

Family Health↗
PubMed2005

[Assessment of the correlation between taste and smell functioning].

UNLABELLED: There are few studies examining relationship between taste and smell. However their clinical unity is more often indicated. Smell perception abnormalities cause modification in taste of food intensity, disabling perception of taste as a consequence of taste's sniffing failure. Thus disturbances of these senses, which often commonly coexist could cause great discomfort in patients, however taste sense is estimated as less important comparing to smell sense. The aim of that study was to compare the taste perception in patients with normal smell function and patients with hyposmia and anosmia. There was analyzed correlation between the patients' subjective estimation of smell and taste senses and results of gustometry and olfactometry examinations. MATERIAL AND METHOD: there were indicated three groups of patients based on smell examination with usage of Elsberga--Levy'ego olfactometr in Pruszewicz modification. The first group included patients with normosmia, the second--patients with hyposmia or anosmia related to every smell, the third--patients with hyposmia on few smells and normal smell feeling of others. The Bornstein's method gustometry modified by us was performed for all groups. Moreover patients presented their subjective estimation of smell and taste senses. All results were statistically analyzed, taking into consideration results with alpha < or = 0.05. RESULTS: All (100%) patients with normosmia correctly identified sour, bitter and salty tastes, while only 53% of patients with hyposmia and anosmia got similar results. However 76.5% of patients from the second group subjectively estimated their sense of taste as a normal perception. CONCLUSIONS: Patients with smell disturbances significantly more often have abnormalities in taste perception than patients with normosmia and their subjective estimation of taste and smell senses is much more different than gustometry and olfactometry results.

Adult↗
PubMed2006

[Three cases report of olfactory cleft disease].

OBJECTIVE: To report a new entity-olfactory cleft disease, and summarize the clinical characteristics, computerized tomography presentation, as well as the effect of trial therapy. METHODS: Three patients with chief complaint of anosmia were evaluated by thorough ENT examination, T&T olfactory testing, sinonasal endoscopy; sinonasal computerized tomography imaging, and olfactory event-related potentials. All patients accepted trial therapy including antibiotics and corticosteroid. RESULTS: Complete obstruction of bilateral olfactory cleft with cleft mucosal edema was seen during endoscopy in all 3 patients. Anosmia was determined in all patients by T&T olfactory testing. No olfactory event-related potentials was identified in all patients. CT revealed soft tissue image limited to bilateral olfactory cleft. No olfactory improvement was found in 2 patients after trial medical therapy. One patient had transitory olfactory improvement after corticosteroid treatment. CONCLUSIONS: Olfactory cleft disease is a new entity, with chief complaint of anosmia. Nasal endoscopy and computed tomography scanning provides the most information for the diagnosis. Effect of medical therapy is poor.

Adult↗
PubMedDate not supplied

[Kallmann's syndrome. Apropos of 2 personal cases].

The Kallmann's syndrome is a rare nosological phenomenon characterized by hypogonadotropic hypogonadism and anosmia. In 1944, Kallmann first studied the genetic aspects of this syndrome in three different families in which 11 subjects suffered of deafness, syncinesis, brain disorders or skeletal anomalies along with olfactory dysfunction. In these patients histological studies revealed either a degeneration in the olfactory bulb tract or a generalized hypoplasia of the olfactory system. In the light of the presence of brain lesions and the possible association with several other endocrine pathologies, hypogonadism should be related to a diminished increase of releasing factors from the hypothalamus. At present the Kallmann's syndrome is considered a genetic syndrome linked to the X-chromosome. The hypothalamus is a genetic disorder target gland and its eventual close connection to the olfactory system could explain endocrine as well as olfactory pathology. Several recent studies carried out on mice by M. Schwanzel-Fukuda and D. Pfaff showed that neurons expressing Luteinizing hormone-releasing hormone (LH-RH) are located in the nervus terminalis, a cranial nerve that is a part of the accessory olfactory system and which projects directly from the nose to the septal-preoptic nuclei in the brain. Clinically, these data could explain the gonadotropin deficiency in association with olfactory dysfunction in the Kallmann's syndrome. In this paper the Authors report two cases of Kallmann's syndrome: a 41-year-old male with eunuchoidism and anosmia, and a 7-year-old child with hypospadia and anosmia.

Adult↗
PubMed1990

Changes of olfaction due to aesthetic and functional nose surgery.

The author describes abnormalities of the olfactory function following functional and aesthetic surgery of the nose. The abnormalities were temporary and lasted only a few weeks. In seven cases (two patients after septoplasties and five after septorhinoplasties) the author found permanent anosmia (in one case he found the steroid dependent anosmia). The swelling of the nasal mucous membrane in olfactory region is the reason for temporary abnormalities of the smell function. The reason for permanent anosmia after nose surgery remains unknown.

Adult↗
PubMed1989

Testing olfaction in a clinical setting.

Assessment of olfactory functioning at the CCCRC entails a threshold test and an odor identification test that contains eight everyday items. A performance average on the two tests yields a composite score on a scale from 0 (anosmia) to 7 (normosmia). The performance of normal volunteers is stable over most of an individual's life span, but decreases for persons over the age of 65 years. Approximately half the patients with olfactory complaints display anosmia, and the other half have hyposmia. The distribution of scores, however, varies with etiologic category, emplified by the fact that patients with nasal/sinus disease display anosmia more frequently than hyposmia. The tests can determine cause (e.g., improvement of score with corticosteroid treatment in cases of nasal/sinus disease) and can also assess degree of improvement with treatment, such as sinus operation.

Aged↗
PubMed1996

[Postoperative olfactory dysfunction in interhemispheric approach for ruptured anterior communicating artery aneurysms].

Between 1969 and 1994 we treated 450 patients with ruptured anterior communicating artery aneurysms, of which 434 cases (96.4%) were operated on via the interhemispheric approach (IH), namely, until 1979 mainly, via bifrontal craniotomy, subfrontal and interhemispheric approach (SIH) and, since 1979, via posterior interhemispheric approach (PIH). Postoperative olfactory dysfunction is one of the main disadvantages of IH. The mechanisms and the incidence of this disadvantage were studied in both approaches. The causes of postoperative anosmia in SIH were as follows: sectioning of olfactory tracts intentionally or not, avulsion of olfactory bulbs and probability of ischemic or minor mechanical insults to olfactory tracts. However, these matters rarely occur in PIH because of little exposure of olfactory nerves. The mechanisms of postoperative anosmia in PIH were considered to be as follows: sinking of frontal lobes due to excessive drainage of cerebrospinal fluid and over-retraction of frontal lobes. The incidence of postoperative anosmia decreased from 27.0% via SIH to 5.5% via PIH.

Aneurysm, Ruptured↗
PubMed2002

Characteristics of olfactory disorders in relation to major causes of olfactory loss.

OBJECTIVE: To investigate the consequences of olfactory loss and explore specific questions related to the effect of duration of olfactory loss, degree of olfactory sensitivity, and cause of the olfactory loss. PATIENTS: A total of 278 consecutive patients with hyposmia or anosmia were examined. RESULTS: Causes of olfactory loss were categorized as follows: trauma (17%), upper respiratory tract infection (URI) (39%), sinonasal disease (21%), congenital anosmia (3%), idiopathic causes (18%), or other causes (3%). Our data suggest that (1) recovery rate was higher in URI olfactory loss than in olfactory loss from other causes; (2) likelihood of recovery seemed to decrease with increased duration of olfactory loss; and (3) the elderly are more prone to URI olfactory loss than younger patients. Regarding changes in quality of life (QoL), we found that (1) in most patients olfactory loss caused food-related problems; (2) loss in QoL did not change with duration of olfactory loss; (3) younger patients had more complaints than older ones, and women had more complaints than men; (4) complaint scores were higher in hyposmic patients than in anosmic patients; and (5) self-rated depression did not relate to measured olfactory function. CONCLUSIONS: Among many complaints of olfactory loss, the predominant ones were food related. This loss in QoL seemed to be of greater importance in younger than in older people, and women seem to be affected more strongly than men.

Activities of Daily Living↗
PubMed2000

Kallmann syndrome in three unrelated women and an association with femur-fibula-ulna dysostosis in one case.

We describe three unrelated women with hypogonadotropic hypogonadism and anosmia; that is, Kallmann syndrome. Absence of olfactory bulbs and tracts and different degrees of asymmetric dysplasia of olfactory sulci were demonstrated by MRI. Both the father of Case 1 and the maternal aunt of Case 3 had anosmia, thus autosomal dominant inheritance seems to be likely. Patient 2 had Kallmann syndrome and FFU (femurfibula-ulna) dysostosis as a sporadic occurrence in her family.

Adolescent↗
PubMed2002

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

We describe the hitherto smallest interstitial 8p11.2 deletion in a patient with congenital spherocytosis, dysmorphic features, and growth delay in association with hypogonadotropic hypogonadism and anosmia. The latter features are characteristic for Kallmann syndrome. In contrast to the previously reported patients with 8p deletions, the present patient showed normal intelligence. Congenital spherocytosis is one of the most common hereditary hemolytic anemias. One of the three loci for congenital spherocytosis was assigned to chromosome 8p (located between 8p11.1 and 8p21) and mutations in or loss of the ankyrin-1 gene (ANK1) were identified. Molecular analysis confirmed the de novo loss of ANK1 in our patient. Kallmann syndrome, which is characterized by hypogonadotropic hypogonadism and anosmia, can be X-linked, autosomal dominant, or autosomal recessive. So far only the X-linked KAL1 gene has been identified. The present finding suggests an autosomal locus for Kallmann syndrome at 8p11.2. The simultaneous occurrence of congenital spherocytosis, Kallmann syndrome phenotype, dysmorphic features, and growth delay in this patient points to a new contiguous gene syndrome.

Abnormalities, Multiple↗
PubMed1986

Characteristic craniofacial appearance and brachytelephalangy in a mother and son with Kallman syndrome in the son.

We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and thin upper lip. They both had a similar metacarpal-phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison to other family members, and the son had hypogonadotropic-hypogonadism and anosmia. We favor the hypothesis of a single autosomal dominant gene with variable expression of the hypogonadism and anosmia, although there are alternative explanations for the combination.

Adolescent↗
PubMed2005

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

Kallmann syndrome (KAL) combines hypogonadotropic hypogonadism and anosmia. Hypogonadism is due to Gonadotropin Releasing Hormone (GnRH) deficiency and anosmia is related to hypoplasia of the olfactory bulbs. Occasional symptoms include renal agenesis, bimanual synkinesia, cleft lip palate, dental agenesis. KAL is genetically heterogeneous and two genes have so far been identified, namely KAL1 (Xp22.3) and FGFR1/KAL2 (8p12), which underlie the X chromosome-linked form and an autosomal dominant form of the disease, respectively. We studied a cohort of 98 unrelated Caucasian KAL patients. We identified KAL1 mutations in 14 patients, of which 7 (c.3G>A (p.M1?), g.IVS1+1G>T, c.570_571insA (p.R191fsX14), c.784G>C (p.R262P), c.958G>T (p.E320X), c.1651_1654delinsAGCT (p.P551_E552delinsSX), c.1711T>A (p.W571R)) have not been previously reported. In addition, we found FGFR1 mutations in 7 patients, namely c.303G>A (p.V102I), C.385A>C (p.D129A), c.810G>A (p.V273M), c.1093_1094delAG (p.R365fsX41), c.1561G>A (p.A520T), c.1836_1837insT (p.Y613fsX42), c.2190C>G (p.Y730X), all of which were novel mutations. In this study, unilateral renal agenesis and bimanual synkinesia were exclusively found associated with KAL1mutations, cleft palate and dental agenesia with FGFR1mutations.

DNA Mutational Analysis↗