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PubMed1999

A novel mutation of the KAL1 gene in Kallmann syndrome.

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 gene mutation in this abnormality.

Adolescent↗

PubMed2001

Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients. The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KAL1 gene mutation, were not related to the sites of mutations.

Adolescent↗

PubMed2005

Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.

Kallmann's syndrome (KS) refers to the association of hypogonadic hypogonadism and anosmia or hyposmia. The X-linked form of the disease is due to mutations in the KAL1 gene that encodes for the protein anosmin-1. We studied the KAL1 gene in a patient with KS and his family by PCR amplification and direct sequencing. A novel missense mutation (V263G) that modifies the major cell adhesion site of the anosmin-1 protein was identified. Our results suggest that this reported mutation is responsible for KS and might help to elucidate the function of an important area of the anosmin-1 protein.

Adolescent↗

PubMed2000

A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome.

OBJECTIVE: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. In this study we describe monozygotic twins with Kallmann syndrome due to the same mutation in the KAL1 gene. DESIGN: We studied male monozygotic twins with Kallmann syndrome. METHODS: We analyzed the KAL1 gene using the PCR-direct sequencing method. The twins' mother was examined for the identified mutation. RESULTS: We identified a 14 bp deletion from codon 419 in exon 9 (Pro419del14) in both KAL1 genes of the twins. This was a novel mutation in the KAL1 gene and was responsible for Kallmann syndrome. As Pro419del14 was not detected in the mother of the twins, Pro419del14 was a germline mutation originating from them. These monozygotic twins showed different LH and FSH responses to LH-RH stimulation and different phenotypes such as complications, physiques and psychiatric characters. CONCLUSIONS: We report an identical KAL1 gene mutation in the monozygotic twins with Kallmann syndrome. As these monozygotic twins showed different phenotypes in some respects, we suggest that factors other than mutations in the KAL1gene affect the symptomatic features of Kallmann syndrome.

Adult↗

PubMed1981

[Occupational impairment of the olfactory sense of chromate producing workers (author's transl)].

Using T & T Olfactometer which had been developed and standardized for clinical use in Japan recently, measurements of olfactory thresholds of odor detection and of odor recognition were carried out on 33 subjects (26 males and 7 females), who had worked in a chromate producing factory. The subjects had left the factory before 7 years or more. Five kinds of test odors were used; beta-phenyl ethyl alcohol, methyl cyclopentenolone, iso-valeric acid, gamma-undecalactone, and scatol. The degree of olfaction loss was expressed with the number of powers of 10 in series of multiple concentrations by 10 of each test odor with reference to the concentration of the detection threshold of young normal people. Seventeen of 33 subjects (51.4%) had a perforation of the nasal septum. Middle and high grade decrease of odor recognition faculty were found in 18 (54.5%) including 2 anosmia, one of whom complained also of the disorder of taste. Any specific pattern of olfactogram characterizing them were not found, namely, chromates impair olfactory sense for all kinds of odors, which means the impairment of olfactory epithelium itself. The degree of olfaction loss was related to the duration of employment in the chromate producing factory. The existence of septal perforation had no direct relation to the degree of olfaction loss.

Adult↗

PubMed1995

Esthesioneuroblastomas with intracranial extension. Proliferative potential and management.

A total of 15 patients with esthesioneuroblastomas were treated between 1978 and 1992 at the Neurosurgery Department, Nordstadt Hospital, Hannover. In 9 cases, the tumors invaded the anterior cranial fossa. One patient died before any surgical intervention. Eight tumors were operated by a combined paranasal and subfrontal approach. Gross total tumor removal was achieved in all cases. Apart from anosmia, the only postoperative complication was transient mental changes in one case. Immunohistochemical analyses with MIB 1 monoclonal antibodies, directed against recombinant parts of Ki-67 antigen, were performed to estimate the proliferative potential of the esthesioneuroblastomas. Most of the tumors showed high proliferating cell indexes, which ranged from 3 to 42% (mean, 16%). The proliferating cell index with MIB 1 showed a correlation with postoperative outcome, although this was not statistically significant. Esthesioneuroblastomas can be totally removed surgically. The proliferating cell index may reflect histologically the biological behavior of tumor. Long-term follow-up is mandatory, and immunohistochemical studies may be of help in predicting outcome.

Adult↗

PubMed2000

[Subfrontal approach in sellar and suprasellar lesions].

A variety of mass lesions are placed in and around of the sella turcica. Although their common location these lesions have distinguishing features and different approaches can be selected. There are conventional transcranial and sophisticated skull base approaches. We report our experience with a subfrontal route to the sellar region. Between February 1997 and March 1998, 19 tumors placed around the sella have been treated surgically by this method. Eleven of them were pituitary tumors, 3 were craniopharyngeomas, 2 were meningiomas, and 1 was germinoma. Total removal was achieved in 17 cases. There was not operative mortality. Postoperative complications included twelve cases of unilateral anosmia and four cases of transitory diabetes insipidus. Progressive stroke occurred in one patient. These results stress the importance of the subfrontal approach to reach such lesions in sellar region.

Adenoma↗

PubMed2003

[Olfactory groove schwannoma: case report].

Intracranial schwannoma not related to cranial nerves are unusual and rarely found in the subfrontal region. We report a case of olfactory groove schwannoma in a 27-year-old male, who presented with anosmia and headache initiated one year ago. At admission, bilateral papilledema was noted with absense of motor deficits or cranial nerves abnormalities. Cranial computed tomography (CT) revealed a bifrontal multicystic isodense enhancing mass lesion causing a frontal ventricular horn compression. Radiological features resembled that of a cystic olfactory groove meningioma. Decompressive bifrontal craniotomy was done. One month later, CT demonstrated a homogeneously contrast-enhancing mass in the olfactory groove region who extended into the left nasal cavity. Magnetic resonance imaging did not add more informations. A second surgical procedure was done through a nasoethmoidal approach with incomplete resection of the lesion. The complete tumor resection was only possible in a third surgery through another bifrontal approach. The hystopathological diagnosis of schwannoma was performed by conventional methods and confirmed by immunohistoquemical staining for S-100 protein. The rarity of this tumor and his clinical, radiological and histological aspects justify this publication.

Adult↗

PubMed1997

Craniofacial morphology in patients with Kallmann's syndrome with and without cleft lip and palate.

OBJECTIVE: Kallmann's syndrome is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. The principal endocrine defect of hypogonadotropic hypogonadism is a failure to secrete luteinizing hormone-releasing hormone (LHRH), resulting in underdevelopment of the pituitary gonadotropes and an inability to synthesize and release luteinizing hormone and follicle-stimulating hormone. The purpose of the present investigation was to describe the dentition and the craniofacial morphology in patients diagnosed with Kallmann's syndrome. DESIGN: The sample consisted of 11 patients, 2 of whom also had bilateral cleft lip and palate. Radiographic investigations, including cephalometry, were performed. Comparisons were made to normal individuals and to cleft lip individuals without Kallmann's syndrome. RESULTS: Dentition: tooth agenesis occurred more frequently in patients with Kallmann's syndrome. Craniofacial morphology: Increased mandibular inclination and mandibular angulation were seen in Kallmann patients. When clefting also occurred, extreme retrognathism of both maxilla and mandible was seen, a deviation which seemingly worsened during growth. The anterior cranial base and the sphenoid bone showed an altered morphology in one of the patients with Kallman's syndrome. CONCLUSIONS: An early diagnosis of Kallmann's syndrome is very important because the prognosis for endocrine treatment thereby improves, and therefore, it is recommended that the sense of smell be evaluated in patients with the craniofacial morphology described.

Adolescent↗

PubMed1992

Wegener's granulomatosis in a patient with a rheumatoid arthritis.

A 38-year-old woman with rheumatoid arthritis who developed Wegener's granulomatosis is described. Wegener's granulomatosis appeared with saddle nose, perforation in her nasal septum, and granuloma in the nasal cavity. Laboratory evaluation showed a positive rheumatoid factor and circulating immune complex. Radiographic examination revealed ankylotic changes in both wrist and elbow joints. Bilateral anosmia and other disease manifestations completely responded to treatment with oral cyclophosphamide and prednisolone.

Adult↗

PubMed1989

[Nasal cavity paraganglioma with intracranial extension. Case report].

A 58-year-old male was admitted following an episode of unconsciousness. Nine years prior to this, he had undergone surgery and radiation therapy for a nasal tumor. Subsequently, he had undergone surgical excision of recurrent nasal tumors and metastases to the cervical lymph nodes. The final pathological diagnosis was paraganglioma. On admission, he had no neurological deficit other than anosmia. Laboratory studies showed no abnormalities in urinary concentrations of vanillylmandelic acid or catecholamines. Computed tomography (CT) demonstrated a calcified, heterogeneously enhanced mass in the anterior ethmoid sinus and bilateral frontal fossa. Cerebral angiography revealed a mesh-like tumor stain. Through a bifrontal craniotomy the intracranial tumor was totally removed. It was hypervascular and clearly demarcated from the surrounding cerebral tissue. The pathological diagnosis was paraganglioma without malignant features. Radiation therapy was administrated postoperatively at a total dose of 5060 rads, and follow-up CT showed regression of the ethmoid sinus tumor. As of 2 years postoperatively, the tumor has not recurred.

Brain Neoplasms↗

PubMed1994

Pituitary adenoma invading the skull base--a strategy for skull base surgery.

A strategy for surgical management, including the approach and preoperative evaluation, of pituitary adenoma invading the skull base is described. Preoperative evaluation requires a balloon occlusion test of the internal carotid artery (ICA) to determine tolerance to occlusion. Failure to tolerate occlusion indicates administration of brain protective agents and/or a bypass procedure before tumor removal. The transsphenoidal, pterional, orbitofrontomalar, and infratemporal fossa approaches are all suitable for various tumor locations. A combined orbitofrontomalar and extended frontal approach allows removal of tumor with extensive invasion and is suitable for bypass procedures. Preoperative evaluation of ICA occlusion can prevent development of hemodynamic stroke. We treated five patients with pituitary adenoma invading the skull base, including two primary and three recurrent cases. All symptoms improved, but temporary oculomotor nerve disturbance occurred in three patients and anosmia in one. Reoperations for recurrent pituitary adenomas were effective in reversing the symptoms. No hemodynamic stroke was seen postoperatively. These tumors, except for drug-responsive cases, are indicated for skull base surgery.

Adenoma↗

PubMed2005

Transethmoidal meningoencephalocele in an elderly woman. Case report.

A 69-year-old woman presented with a transethmoidal meningoencephalocele manifesting as gradually developing anosmia. Examinations revealed a mass in the nasal cavity associated with multiple angiomas in her lip and orbit. Neuroimaging showed meningoencephalocele extending via the ethmoid sinus to the nasal cavity. She had no history of craniofacial trauma and intranasal or intracranial operation, and no skull base tumor was detected. Frontal base reconstruction was performed with a two-layer vascularized flap to prevent cerebrospinal fluid leakage. The dural defect was repaired with the pericranial flap, and the bony defect of the cribriform plate was reconstructed using the reversed U-shaped split temporalis musculofascial flap. Transethmoidal meningoencephalocele is a rare congenital malformation and almost half of the cases are identified in the first year of life. We should be aware of this clinical pathology and avoid unexpected rhinorrhea in elderly patients. The most important aspect of the operation is watertight closure of the patent passage to the intracranial compartment. The reversed U-shaped split temporalis musculofascial flap is useful to reconstruct the midline frontal base defect.

Aged↗

PubMed2004

Kallmann's syndrome and schizophrenia.

OBJECTIVE: Kallmann's Syndrome is a heritable disorder characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. A common pathogenesis for KS and schizophrenia had been proposed based on shared pathologies of these two disorders, although no such clinical associations have ever been reported. METHOD: We report a 35 year old man with schizophrenia and Kallmann's Syndrome. The patient presented with signs and symptoms of hypogonadism, severe hyposmia and normal endocrine functions of the anterior pituitary. Hyposmia has been attributed to the absence of the olfactory bulbs and tracts and atrophy of the olfactory gyri, but normal olfactory mucosa. The patient presented with paranoid schizophrenia with persecutory delusions, auditory hallucinations, thought disorder, depersonalization, and gradual but marked global deterioration. RESULTS: Psychiatric evaluation revealed an entirely different psychopathological and personality profile between the patient and the six other Kallmann patients studied. Cycle sequencing analysis revealed a normal sequence of all 14 exons of the KAL gene. In conclusion, based on the presented case, Kallmann's Syndrome and schizophrenia represent a rare clinical association rather than a syndrome with a common pathogenesis, which if present should be confined to the olfactory dysfunction.

Adult↗

PubMedDate not supplied

[Sense of smell in patients with bilateral nasal polyposis].

INTRODUCTION: Sense of smell is susceptible to various changes, both in physiological and in numerous pathological conditions. Of quantitative disorders of smell, hyposmia and anosmia are quite common, whereas of qualitative disorders parosmia is most frequent. The aim of this paper was to examine impact of bilateral nasal polyposis on olfactory function. MATERIAL AND METHODS: The research was carried out at the Nose, Ear and Throat Clinic in Novi Sad. It included 80 examinees, 40 (20 male, 20 female) with bilateral nasal polyposis, while 40 examinees belonged to the control group (20 male, 20 female) without symptoms of nasal polyposes. Fortunato-Niccolini olfactometer was used for this examination. RESULTS AND DISCUSSION: In patients with bilateral nasal polyposis the average perception threshold values for examined odors were 15.50 ccm of odorous air, while in the control group they were 10.20 ccm of odorous air. The average identification threshold values for examined odors in patients with bilateral nasal polyposis were 18.80 ccm of odorous air, while in the control group they were 13.55 ccm of scented air. T-test showed that values of both thresholds were statistically significantly higher (p<0.01) in patients with bilateral nasal polyposis in relation to the control group. CONCLUSION: Olfactory deficit in patients with bilateral nasal polyposis is explained by difficult or impossible passage of odors into the olfactory region.

Female↗

PubMed2002

Phantom smelling.

A case of phantom smelling (phantosmia) is described in a 28-yr.-old man who developed permanent bilateral anosmia after a serious injury to olfaction-related brain structures at the age of 25 years. The findings indicate that, even years after loss of input from olfactory receptors, the neural representation of olfactory perception can still recreate olfactory sensations without any conscious recall of them. This indicates that the neural representation of olfactory sensations remains functional and implies that neuronal activity in the olfactory organ or in other brain structures gives rise to olfactory experiences perceived as originating from the perception of original odor substances. The report suggests the intriguing possibility that the olfactory perception is not a passive process that merely reflects its normal input from the olfactory system but is continuously generated by a neural representation in the olfactory organ or in other olfaction-related brain structures, based on both genetic and sensory determinants. To the author's knowledge this is the first reported case of its kind.

Adult↗

PubMedDate not supplied

Olfactory function evaluated by SPECT.

Few articles on neuroimaging techniques in the study of central and peripheral olfactory pathways are present in the literature. By Single Photon Emission Computed Tomography (SPECT), cortical perfusion increment after sensorial stimulation can be evaluated objectively. In the present research, 10 healthy adults underwent SPECT by CER.TO.96 cerebral tomograph, before and after olfactory stimulation with lavender-water. A variable degree of cortical activation was detected in all patients. Gyrus rectus (+24.5%), orbito-frontal cortex (right +26.6%, left +25.6%), and superior temporal (right +9.9%, left +5.5%) cortical areas were always activated. A slight perfusion increase was present in middle temporal (right +3.2%, left +2.1%) and parieto-occipital (right +0.4%, left +2%) regions. Five patients affected by posttraumatic anosmia were also investigated: they showed a perfusion increment markedly inferior to 0.5% in every olfactory area. SPECT is a rather diffused, easily performed technique which yields objective semi-quantitative information on brain perfusion. Hence, it can be regarded as a promising contribution in the fields of smell neurophysiology, clinical olfactometry, and medicolegal queries.

Adult↗

PubMedDate not supplied

Endoscopic Lothrop procedure: the University of Miami experience.

Over a 2-year period, 21 patients with clinical and radiologic evidence of persistent or recurrent frontal sinusitis who had a prior ethmoidectomy and/or frontal sinusotomy underwent an endoscopic Lothrop procedure. The patients' chief complaints were headaches (13), nasal obstruction and/or purulent rhinorrhea (4), orbital abscess/cellulitis (2), anosmia (1), and cough (1). Preoperative frontal headaches were present in 19 patients. The common frontal ostium remained patent (> 50% of intraoperative size) by flexible fiberoptic examination and transillumination 2-24 months postoperatively in 12 of 21 patients (57%). Eighteen of 21 patients (86%) had improved or resolved chief complaints. All but 4 of 19 patients (21%) with preoperative frontal headaches had improved or resolved symptoms. Two patients required additional surgery during the follow-up period. The endoscopic Lothrop procedure is a viable option before frontal sinus obliteration in patients with recurring frontal sinusitis who have failed conventional endoscopic techniques. The surgical technique and results will be presented.

Adult↗