1/124. A female case of Kallmann's syndrome. A case of 20-year-old woman with hypogonadotropic hypogonadism and anosmia is reported, since very few female cases of Kallmann's syndrome have been reported so far in japan. Three uncles on the father's side had no children. Height was 168 cm, and arm span 165 cm. The olfactory test revealed complete anosmia. Bone age was 13 year. Chromosome was 46 XX and normal karyotype. Basal levels of serum FSH, LH and estrogens (E1, E2 and E3) were low. serum FSH and LH levels rose slightly only after LH-RH administration, and did not increase in clomiphene test. plasma estrogens did not increase after daily injection of 150 IU of HMG for 3 successive days. The response of serum GH to arginine infusion was normal, while that to insulin-induced hypoglycemia was poor. ( info) |
2/124. kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient. A 27-year-old female is described with Kallman syndrome and Klippel-Feil anomaly. This is thought to be the first report of the coexistence of these two conditions in the same patient. ( info) |
| 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. ( info) |
4/124. Reversible hyposmia caused by intracranial tumour. Two patients with hyposmia caused by an intracranial tumour recovered olfactory functions after craniotomy. The first case was a 68-year-old male with a tumour metastasized from the lung to the right frontal lobe. The second case was a 75-year-old male with meningioma of the right frontal lobe. Results of T & T olfactometry and venous olfaction tests also indicated suspected central hyposmia. magnetic resonance imaging (MRI) indicated compression of the frontal lobe by intracranial tumour. pressure on the olfactory centre located in the frontal lobe produced hyposmia. decompression of the frontal lobe by craniotomy improved the sense of smell. Therefore, some cases of olfactory disturbance caused by intracranial tumour may be reversible if they are the result of simple compression of the olfactory centre. ( info) |
5/124. The smell of burnt toast: a case report. A 71-year-old woman awoke one morning to find that she perceived all aromas, odors, and fragrances as smelling like burnt toast. Over the next three years, numerous studies and therapeutic trials failed to elicit the cause of her dysosmia or to provide relief. Finally, the demonstration of small infarcts as seen on a brain MRI suggested that an infarct near the olfactory pathway was responsible for the sudden onset and the 11 year persistence of her unique paromia. ( info) |
6/124. A case of primary amenorrhea, diabetes and anosmia. This case details a patient with primary amenorrhea with an unusual cause. She presented at age 16 with short stature, minimal sexual development and no prior menses. Her history was significant for poorly controlled type 1 diabetes. She had been evaluated previously for growth hormone deficiency, and had received a short course of growth hormone therapy. Of greatest significance was the fact that she had also had a decreased sense of smell since her youth. Although a previous computerized tomography scan had been reported as normal, follow-up magnetic resonance imaging demonstrated the absence of olfactory bulbs. smell testing confirmed the absence of smell and testing of gonadotropin releasing hormone demonstrated an inadequate response. All of these features suggested kallmann syndrome. This syndrome commonly presents with delayed onset of puberty and decreased or absent sense of smell. There are also many associated features, and the disease is remarkable for its great genotypic and phenotypic variability. Current understanding of its pathogenesis, the commonly associated features of kallmann syndrome and the impact of diabetes on growth and sexual development are reviewed. ( info) |
7/124. Anosmia induced with alpha interferon in a patient with chronic hepatitis c. This is a report of the alpha interferon-induced acute anosmia in a 37-year old patient with chronic hepatitis c. This exceptionally rare side-effect started in our patient as a smelling problem 2 weeks after the initiation of the therapy, and anosmia is still present 13 months after the discontinuation of the alpha interferon. We presume that neurotoxic mechanism could be responsible for this side-effect. ( info) |
8/124. Kallmann's syndrome: clues to clinical diagnosis. Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies. ( info) |
9/124. 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. ( info) |
10/124. Congenital anosmia. We present two cases demonstrating congenital anosmia. In both cases, magnetic resonance imaging (MRI) has served to highlight an interesting clinical oddity. To date, there has only been one study of the use of MRI in the assessment of patients with congenital anosmia who do not have Kallmann's syndrome. ( info) |