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PubMed1994

Preservation of fertility despite subnormal gonadotropin and testosterone levels after cessation of pulsatile gonadotropin-releasing hormone therapy in a man with Kallmann's syndrome.

A man with IHH and anosmia presented in 1980. He was successfully treated with various hormonal regimens; four children were conceived with hCG or pulsatile GnRH therapy. The patient discontinued GnRH after the fourth child was conceived, and testosterone enanthate injections were prescribed. However, he took the injections only briefly and 15 months later he demonstrated continuing spermatogenesis despite low serum FSH and LH levels. His wife successfully became pregnant. This case adds to the recognized range of recovery in IHH, with fertility despite stopping hormonal therapy and despite low serum gonadotropin and T levels.

Adult↗
PubMed1993

[Neurologic manifestations in Wolfram's syndrome].

Wolfram's syndrome, also known as DIDMOAD syndrome, includes juvenile diabetes mellitus and optic atrophy variously associated with diabetes insipidus and deafness. We describe the neurological findings in 5 patients with Wolfram's syndrome. All patients had a neurological examination and were subjected electrophysiological and brain imaging including CT scan and, in one patient, MRI. There were two pairs of brothers and a sporadic case with paternal consanguinity suggesting recessive inheritance. Neurological abnormalities were found in four patients including dysarthria, seizures, anosmia, nystagmus, ataxia and changes in the electroencephalograms, electroretinograms and evoked potentials. In contrast with previous reports, four patients had abnormal brain CT scan with prominent atrophy of the brainstem. In the patient studied with NMR, severe brainstem and cerebellar atrophy was found. These neuroradiological findings are reminiscent of those described in olivopontocerebellar atrophy and are in agreement with previous pathological studies. We conclude that Wolfram's syndrome includes phenotypical manifestations of olivopontocerebellar atrophy. This reinforces the opinion that olivopontocerebellar atrophy is a nonspecific syndrome of varied causes.

Adolescent↗
PubMedDate not supplied

Kallmann syndrome: MR evaluation of olfactory system.

PURPOSE: To describe the MR appearance of the olfactory bulbs and tracts and temporal lobes in patients with Kallmann syndrome, a disorder characterized by hypogonadotropic hypogonadism and anosmia. METHODS: High-resolution MR scans with a surface coil placed over the nasion were performed in two patients with Kallmann syndrome. Coronal 3-mm thick contiguous sections were obtained through the olfactory bulbs and tracts. MR scans included volumetric analysis of the bulbs, tracts, temporal lobes, and hippocampi. RESULTS: No olfactory bulbs or tracts could be identified in patients with Kallmann syndrome. In comparison, the olfactory bulbs and tracts were identifiable in seven healthy volunteers. The temporal lobe and hippocampal volumes were comparable between control subjects and Kallmann patients. CONCLUSIONS: High-resolution surface-coil MR can identify the absence of olfactory bulbs and tracts in patients with Kallmann syndrome. Normal olfactory bulbs and tracts are easily discerned with surface-coil imaging.

Adult↗
PubMed1995

[Unusual association of Kallmann syndrome and arachnoid cyst of the middle fossa. Report of a case].

Hypogonadotrophic hypogonadism can result from different abnormalities in the central nervous system. The clinical picture depends upon the time of onset the deficiency, the magnitude of the gonadotropins deficiency and whether there are other pituitary hormone deficiencies as well. We report on a 18-year-old boy, who was investigated because of pubertal and growth delay. He also had learning disabilities. On physical examination he exhibited mild eunuchoid aspect, 162 cm height (z score = 2.17), pubertal development on stage G II, P II, and 4 cm3 testis. Laboratory investigation revealed pre-pubertal levels of testosterone and normal results of the combined test of anterior pituitary function, except for in GnRH acute and prolonged test. Brain CT showed an arachnoid cyst on left middle fossa with expansion to suprasellar cisterna. He was diagnosed as having hypogonadotrophic hypogonadism secondary to compression by the cyst, and a cyst-peritoneal derivation was performed. After surgery there was no improvement of the pubertal state and bilateral anosmia was discovered, so Kallmann's syndrome was then diagnosed and was confirmed by MRI, even though the hormonal results are not totally matched with the referred syndrome. We did not find in the literature any description of the association between Kallmann's syndrome and arachnoid cyst and we believe that in this case the results of the hormonal measurement may be due to such association that provoked an additional hypophysis dysfunction.

Adolescent↗
PubMedDate not supplied

[The role of sensory systems in the behavior of Ryukyu mice (Mus caroli Banhote, 1902)].

The role of vibrissa sense of touch, sense of smell, and vision in the Ryukyu mice in experiments with the optic boundary and the glass corridor were studied. A total of 20 adult and 20 young mice were used in the experiments. At the first stage, observations on the intact animals were performed; the animals with removed vibrissa and anosmic animals were used at the second and third stages, respectively. Significant similarities were observed between the behavior of adult males and females. More essential differences were found between the young and adult mice. The role of vibrissa sense of touch is important for orientation of Mus caroli, especially in young mice. Adult animals with a great life experience compensate for the absence of vibrissae more successfully through the intensified use of vision. Anosmia markedly reduces the motor activity of animals and leads to a reduced marking behavior. However, it stimulates the intense use of vision to a lesser extent than does vibrissectomy.

Aging↗
PubMed1995

[Aspirin-induced asthma as an important type of bronchial asthma].

Aspirin-induced asthma (AIA) should be recognized as an important types of bronchial asthma for the following reasons. 1) The pathogenesis of AIA is specific. Inhibition of cyclooxygenase a (key enzyme for the production of prostanoids from arachidonic acid) by non-steroidal antiinflammatory drugs (NSAID) is an important trigger of asthma attacks. 2) The frequency of AIA is not low. It is estimated to be 9.8% in adults with chronic asthma. 3) Some clinical features of AIA are characteristic. Naso-sinus complications, such as rhinitis, chronic sinusitis, nasal polyposis, and anosmia, are commonly found in patients with AIA. 4) Glucocorticoids with succinate ester, which are commonly used to treat asthma attacks, induce asthma symptoms or provoke severe asthma attacks in 70% to 80% of patients with AIA. 5) Some patients with AIA are hypersensitive to some agents in addition to NSAID, e.g., tartrazine (15.1%), sodium benzoate (14.3%), and parabens (12.0%). 6) Patients with latent AIA are in danger of having fatal or near-fatal asthma attacks if they take NSAID. We should educate patients to eliminate the risk posed by NSAID and other agents that may induce asthma attacks, and should enlighten doctors and pharmacists, who are not specialists in allergy or respiratory disease, about AIA. 7) Asthma in these patients will be less severe if their condition is correctly diagnosed and they receive appropriate medical treatment.

Adult↗
PubMed1995

[Two cases of superficial siderosis of the central nervous system. Findings of the cerebrospinal fluid, magnetic resonance imaging and positron emission tomography].

Two cases (case 1, a 45-year-old man; case 2, a 68-year-old man) of superficial siderosis of the central nervous system are presented. Main neurological symptoms were anosmia, sensorineural deafness, dysarthria, ataxia, and pyramidal tract signs. Lumbar puncture revealed bloody cerebrospinal fluid (CSF) in both cases. In case 1, the CSF became watery clear after administration of hemostatic medicines. T2-weighted magnetic resonance images showed cerebellar atrophy and marginal hypointensity of the brainstem, cerebellum, and the entire spinal cord. T2-weighted images of the cranial nerves showed hypointensity of the VIII nerves which were clinically impaired as compared with normointensity of the VII nerves which presented no clinical symptom. These findings may reflect difference in the degree of hemosiderin depostion between the VII and VIII nerves. While case 1 had a borderline score of WAIS-R (IQ79), case 2 showed overt dementia (performance IQ65). Positron emission tomography showed that cerebral blood flow and cerebral oxygen metabolism were reduced in the basal temporal lobes in both cases.

Aged↗
PubMedDate not supplied

Allergen-specific low-dose immunotherapy in perennial allergic rhinitis: a double-blind placebo-controlled crossover study.

In a double-blind placebo-controlled crossover study, 36 adults with perennial allergic rhinitis were treated with daily subcutaneous injections of inhalant allergens, the doses of which had been predetermined by intradermal testing. The dose chosen for each allergen was the maximum intradermally tolerated dose (MITD) of that allergen, defined as 0.05 ml of the strongest concentration in a 1:5 dilution series which did not produce a positive wheal. Of the 27 who expressed a preference, 21 (78%) preferred the active preparation and six (22%) the placebo (p = 0.006). Significant symptom relief was apparent on an analysis of total rhinitis symptom scores (p = 0.006), nasal blockage (p = 0.02), nasal discharge (p = 0.006), postnasal drip (p = 0.02) and anosmia (p = 0.02). These results support the validity of allergen-specific low-dose immunotherapy using the MITD.

Adolescent↗
PubMedDate not supplied

[Pauci-symptomatic sensory polyneuropathy in Refsum's disease].

Refsum's disease is an autosomal recessive disease caused by defective alpha-oxidation of phytanic acid. The usual clinical presentation is the association of retinitis pigmentosa, ataxia and chronic severe sensorimotor polyneuropathy. A case of mild purely sensory neuropathy in a 40-year-old patient associated to high CSF protein level led to the diagnosis of Refsum's disease. The paucity of sensory symptoms and signs of neuropathy contrasted with severe reduction of motor and sensory nerve conduction velocities and markedly signs of sensory neuropathy observed in the nerve biopsy. Typical ring-scotomas, retinitis pigmentosa, anosmia, deafness, and high plasma phytanic acid level were present in extensive examination. There was no other case in the family.

Adult↗
PubMed1996

[Experimental and pathological models that explain the regulation of cellular migration and axon's orientations].

Since Cajal discovery of nerve growth cones and their role in the growth, metabolism and destination of the axon in 1890 numerous studies have corroborated with more sophisticated techniques his original findings and ideas. The use of modified Golgi staining, drawing from the camera lucida in 2 combination with electron microscopy and t retrograde biochemical markers have helped to identify the neuronal sites of synapsis. Dynamic studies of the nerve growth cones using time-lapsed video microscopic images of living neuroblast in t culture or the intact animal have demonstrated their protactil and retractile membranes and exploratory filipodia properties. Interaction between growth cone membrane receptors and different molecules along the migrating axon determine also its final destination. Finally the role that genes play on neuronal migration and in guiding the axons to reach their targets have been identified in patients with Kallmann syndrome, a migrational disorder of olfactory axons and hypothalamic gonadotropic hormone-releasing hormone with absent gene at Xp22.3 locus manifested by anosmia and hypogonadotropic hypogonadism.

Axons↗
PubMed1997

[A case of olfactory neuroblastoma with intracranial, intraorbital extension and multiple metastases].

A 51-year-old man presented with headache, vomiting and exophthalmus. Neurological examination revealed anosmia, papilledema, decrease in visual acuity, and disability in ocular movement. MRI showed a huge mass which occupied the whole nasal cavity and compressed the frontal lobe upwards and the eyes laterally. CT revealed an extensive bony destruction of the frontal base and bilateral orbits. The mass was biopsied transnasally, and was histologically diagnosed as olfactory neuroblastoma. It was highly radiosensitive and disappeared with a local irradiation of 40 Gy. Three months later the patient complained of a pain radiating from the neck to the right arm. MRI demonstrated a metastasis at the vertebral body of C5. Local irradiation of 30 Gy was performed. The metastatic lesion was removed, and a bone graft taken from the iliac bone was transplanted via an anterior cervical approach. Three weeks later, however, a hard mass appeared in the right of his neck and was surgically removed. By histological examination, it was also identified as a metastatic neuroblastoma to the cervical lymph node. A week after the removal of the cervical metastatic lesion, the metastasis extended rapidly to the left cervical and the bilateral hilar lymph nodes of the lungs. Chemotherapy was performed with a total doses of 800mg of cyclophosphamide, 1.5mg of vincristine, 40mg of pirarubicin, and 80mg of cisplatin. The lesions disappeared within 7 days. However, the patient died from disseminated intravascular coagulation 10 months after the onset. Olfactory neuroblastoma is usually an intranasal neoplasm, but it rarely extends intracranially and intraorbitally as is shown in our case. Basically, olfactory neuroblastoma is a relatively slow-growing tumor though it has a tendency to develop local recurrences over long periods even after aggressive primary treatment, and accompanied with distant metastases. However, our patient showed a very short survival time. Invasive extension and multiple metastases occurred during a short period, followed by disseminated intravascular coagulation. Combined chemotherapy at the initial treatment may be recommended in such an extensive case.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1996

[Magnetic resonance imaging of the olfactory pathways in Kallmann de Morsier syndrome].

INTRODUCTION: Kallmann syndrome is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. Most cases have been recorded among men. It is a genetic disorder with a specific gene location on the X chromosome. The cells that normally express luteinizing hormone-releasing hormone or LHRH fail to migrate the olfactory placode to the forebrain. The lateral projections of the olfactory placode also fail to induce development of the olfactory bulbs and tracts. MATERIAL AND METHODS: The aim of this study was to compare the MRI appearance of the olfactory sulci, the olfactory bulbs and frontal lobe between groups. The first reference group was composed of 20 subjects and the second group of 18 patients suffering from Kallmann syndrome. For all studies we used a 1.5 T magnet system (Signa GE). We performed two sagittal and coronal T1-weighted sequences in spin echo (TR = 600 ms, TE = 12 ms) with interleaved 3 mm slices and a 14 cm field of view. RESULTS: In the first group, the two olfactory bulbs were always seen on coronal slices just behind the crista galli measuring 2 to 3.2 mm transversally. On sagittal slices, in 60% of the cases two bulbs were seen (3 mm laterally of the pituitary stalk) and in the other 40% only one bulb was seen. The length of the bulb has been measured between 6 and 11 mm. We noticed a plat frontal lobe in 85% of the cases. In the second group the olfactory bulbs were never visible among the 18 patients suffering from Kallmann syndrome. The hypoplasic sulci were hardly visible and their size was less or equal to 1 cm and the frontal lobe was triangular in 80% of the cases. One patient had hypoplasia of corpus callosum. CONCLUSION: MRI is helpful tool to demonstrate abnormalities of the olfactory system which are always present among patients suffering from Kallmann syndrome. MRI can also show, at the same time, a possible associated brain abnormality.

Adult↗
PubMedDate not supplied

Disturbances of taste and smell induced by drugs.

We reviewed the current literature (1980-1990, 1991-1996) concerning drugs associated with anosmia, hyposmia, dysgeusia, parageusia, and ageusia, and the impact of these adverse effects. Case reports of patients with sudden and delayed onset of one of these disorders with evidence for implication of a drug were included. Disturbances of taste and smell among the elderly and chronically ill, including those with thermal injury, decreases interest in eating and secondarily impairs healing of wounds. Mechanisms involved with these sensory disturbances include deposition of silver sulfate in nerves after use of topical agents containing silver, altered influx of calcium and other ions, chelation or depletion of tissue-bound zinc, disturbed bradykinin catabolism and second messenger synthesis, catabolism, and altered prostaglandin systems. Other mechanisms, particularly prolonged chemosensory disorders after early drug discontinuation, remain unknown.

Drug-Related Side Effects and Adverse Reactions↗
PubMed1997

[Preservation of olfaction in frontal transbasal approach].

Lesions in the frontal base and clival area have conventionally been approached using the transbasal approach described by Derome and Guiot. However, this approach necessitates removal of the crista galli and sectioning of the olfactory rootlets with the associated risk of anosmia and cerebrospinal fluid leak and, in addition, complex reconstruction of the frontal base is required. We describe a new approach to deeply situated tumors in the frontal base, parasellar and clival area which is a modification of Spetzler's craniofacial approach with preservation of olfaction. In this approach, circumferential osteotomy cuts are made around the cribriform plate to permit en block removal with its attachment to both the dura and underlying mucosa. Opening of the dura is avoided and the cribriform bone is used to reconstruct the frontal base. Three patients underwent surgery using this approach for treatment of recurrent pituitary adenoma in two cases and for clivus chordoma in one. In one patient, olfactory function was not preserved because resection of nasal mucosa was small. In the other two patients, however, olfaction was preserved by creating a cribriform plate complex with a sufficient area of resection of nasal mucosa and tumors were completely removed. Olfaction can be preserved, CSF leakage can be prevented, and facial skin incision and complex frontal base reconstruction can be avoided when this technique for maintaining normal olfactory-cribriform anatomy is used in frontal transbasal approaches.

Adenoma↗
PubMed1977

[Olfactometry after transethmoidal surgery for cerebrospinal fluid rhinorrhoea and after head injury (author's transl)].

After transethmoidal exposure and closure of the dural defect olfactory assessments were made on 26 patients with frontal dural dehiscence. Different methods for both unilateral and bilateral assessment were applied. The incidence of abnormalities were evaluated and these were compared with a second group of 52 patients who had suffered head injury without cerebrospinal fluid rhinorrhoea. There was no significant difference in the frequency of anosmia. The practical advantage of the transethmoidal approach to the floor of the anterior cranial fossa is emphasized.

Cerebrospinal Fluid Rhinorrhea↗
PubMed1997

Schwannomas of the sinonasal tract and nasopharynx.

Approximately 45% of benign peripheral nerve sheath tumors occur in the head and neck region. Of these, schwannomas (neurilemomas) arising from the nasal cavity and paranasal sinuses account for less than 4%. Pathologic features of this subset are not well documented. We report a series of five cases of sinonasal schwannoma and one in the nasopharynx. The male-to-female ratio was equal, and the age at presentation ranged from 38 to 65 years of age (median, 52 yr). Four of the lesions were located within the nasal cavity, one arose from the maxillary sinus, and one originated in the nasopharynx, with extension into the Eustachian tube. Two cases showed local bony destruction, with intracranial extension. Presenting clinical symptoms included nasal obstruction, epistaxis, rhinorrhea, anosmia, facial swelling, headache, and serous otitis media; the two cases with intracranial spread also presented with visual disturbances. All of the six cases were treated by surgical excision. Clinical follow-up in five cases ranged from 6 to 48 months (median, 27 mo). Histologically, all of the lesions shared many cytomorphologic features common to schwannomas arising at other sites, and all of the six cases showed strong, diffuse immunoreactivity for S-100 protein. Four cases showed features of the cellular variant, and one showed focal granular cell change. An unusual and previously poorly documented histologic feature, distinct from schwannomas arising at most other anatomic sites, was a lack of encapsulation, which, when combined with hypercellularity, often raised suspicion of malignancy. Because none of the cases in this series has shown either local recurrence or postoperative metastasis to date, lack of encapsulation and locally destructive growth in an otherwise histologically typical schwannoma arising at this site should not suggest malignant potential.

Adult↗
PubMed1997

[Was Emmanuel Kant's dementia symptomatic of a frontal tumor?].

Using a retrospective diagnostic approach based upon an analysis of the clinical data found in biographical documents, the author explores the medical peculiarities apparent in the life of Emmanuel Kant. The clinical history is globally dominated by neurological and ophthalmological symptoms. From a neurological standpoint, the philosopher started to manifest around the age of fifty a subtle deterioration of his mental powers. This disorder gradually impaired his intelligence and judgement, progressing slowly toward dementia. He also manifested signs of raised intracranial pressure, and later, frontal symptoms such as a slackening of social inhibitions, stereotypies and affective disinterest. An anosmia is also reported and several episodes of loss of consciousness are highly reminiscent of late-onset epileptic fits. Ophthalmological findings include transient visual obscurations, a bout of diplopia, and a progressive loss of vision in his left eye. Various diagnostic hypotheses found in the literature are then reviewed. These hypotheses are confronted with the clinical data and the reasons for their inadequacy are assessed. The nature of the clinical features, in conjunction with the similarity underlying the evolution of the neuro-ophthalmological symptoms and the philosopher's psychological profile, leads us to propose a diagnosis of frontal tumor, possibly of meningiomatous origin. This aetiology makes it possible to account for more biographical data than has been the case with other hypotheses presented to date.

Brain Neoplasms↗