Cases reported • Hoarseness

1/6. Lipoid proteinosis.

A 21-year-old man presented with a complaint of hoarseness as well as lesions along the eyelids and on his knees, elbows, and fingers. hoarseness had developed in childhood, followed by lesions along the eyelids and on the elbows and fingers. He had developed lesions on the knees, feet, scrotum, penis, and axilla over the last 2 years. His parents were relatives, but nobody in the family showed similar features. His physical examination was normal. On dermatologic examination, there were beaded papules along the eyelids and small, yellow-white infiltrations on the tongue, buccal mucosa, palate, scrotum, and penis (Fig. 1). His tongue was firm and its mobility was limited. He also had infiltration of the frenulum (Fig. 2) and warty and hyperkeratotic papular and nodular lesions on the hands, knees, elbows (Fig. 3), and axilla. The laboratory findings and laryngoscopic examination were normal. Ophthalmologic, neurologic, and psychiatric examinations were also normal. Electroencephalogram (EEG), electromyogram (EMG), craniography, and cranial computed tomography (CT) scanning revealed no abnormality. The histopathologic examination of the skin biopsy specimens obtained from the axilla, elbow, and dorsum of the hand showed hyperkeratosis and periodic acid-Schiff-positive (PAS(+)) staining hyaline material around the dermal capillaries and sweat glands, and confirmed the diagnosis of lipoid proteinosis.

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2/6. Presentation of a previously asymptomatic Chiari I malformation by a flexion injury to the neck.

Flexion injury and/or whiplash injury to the neck in car accidents are usually trivial injuries with no serious neurological deficits. Our intention was to point out the importance to proceed with diagnostic procedures if neurological deficits do occur in order to reveal the true cause of the deficit. The paper presents the case of a 35-year-old woman who sustained a flexion injury to the neck. A relatively trivial injury to the neck promoted a progressive neurological deterioration. The standard diagnostic procedures (x-ray, computed tomography scan) were normal. Further diagnostics with magnetic resonance imaging was required to reveal an underlying Chiari I malformation. Finally, the operative decompression of the craniocervical junction was performed. Following the surgical treatment, the patient's clinical symptoms regressed. One year after her discharge, she remains in good physical condition. To our knowledge, this case is the first report of the manifestation of Chiari I malformation in the adult as a result of a flexion or whiplash injury of the neck. This unusual case suggests that in a trivial flexion injury to the neck sustained in a car accident, which presents with serious neurological dysfunction, and where the standard diagnostic procedures are normal, the possibility of underlying congenital abnormality, such as Chiari I malformation should be considered.

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3/6. ductus arteriosus aneurysm in an adult patient presenting with hoarseness.

aneurysm of the ductus arteriosus is a rare diagnosis, with most cases found in the pediatric population. The unusual adult cases reported in the literature have been associated with high morbidity and a surgical repair has been recommended. We report a case of a 60-year-old man who presented with hoarseness secondary to a ductus arteriosus aneurysm and underwent a repair of this abnormality via a left posterolateral thoracotomy utilizing partial cardiopulmonary bypass.

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4/6. discrete subaortic stenosis as part of a short stature syndrome.

Observations in a family point to the existence of autosomal dominant inheritance for discrete subaortic stenosis (DSS), which made up part of a multisystem disorder. Both parents, offspring of two full siblings, had short stature, obstructive lung disease (OLD), hoarseness and upturned nose. The father alone had aortic stenosis and inguinal hernia. The six offspring, aged from 13 to 28 years, were followed up for up to 8 years. While one of them was virtually normal, and one had only minor abnormalities, four siblings displayed clinical signs of progressive aortic stenosis. Of the two eldest siblings who eventually died, necropsy in one showed a discrete subaortic stenosis, which was hemodynamically proven in one and surgically corrected in another sibling. Upturned nose was present in each examined member of the family, short stature and hoarseness in five of the siblings, DSS in four, OLD, inguinal hernia and congested episcleral veins in three, kyphoscoliosis in two, while epicanthus, strabismus, microphthalmos and widely spaced teeth were noted in the deceased female. The prevalence of some of these traits in roughly three-quarters of the sibship was consistent with an underlying single gene abnormality in affected heterozygous parents. We proposed that this constitutes a new syndrome.

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5/6. Clinically probable brainstem stroke presenting primarily as dysphagia and nonvisualized by MRI.

Ten patients with clinically probable brainstem stroke presenting primarily as acute dysphagia but without visible brainstem abnormality by MRI are described. The patients were evaluated with neurologic examinations, cinepharyngoesophagography, and brain MRI studies. Each patient solely or predominately experienced sudden pharyngeal dysphagia, and additional symptoms or signs other than dysphonia or dysarthria were scarce. Small vessel disease or cardiac embolism were the apparent causes of what appear to have been very discrete brainstem strokes in these patients. Acute pharyngeal dysphagia can be the sole or primary manifestation of brainstem stroke. A negative MRI study should not preclude consideration of this diagnosis, if brainstem stroke is otherwise clinically probable.

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6/6. Acoustic measurement of change in voice quality with treatment for chronic posterior laryngitis.

Sixteen patients who had symptoms and signs of chronic posterior laryngitis were evaluated before, during, and after treatment with omeprazole and nocturnal antireflux precautions. Data were analyzed for patients who complained of some hoarseness, who had no smoking history, and who completed all of the voice recording protocol. The patients' voices were recorded before, during, and following treatment with omeprazole and nocturnal antireflux precautions. voice quality was analyzed by perceptual analysis, and acoustic signal data were measured for jitter, shimmer, and signal-to-noise ratio. Measures of jitter, shimmer, and signal-to-noise ratio changed significantly with treatment of posterior laryngitis (p < .01 for change in each of the measures). Acoustic measures showed some trend of deterioration with cessation of treatment, although the overall improvement in acoustic measures of voice quality was still statistically significant after treatment with omeprazole was discontinued. Although perceived abnormality of voice increased and decreased with the magnitude of measured perturbation of the acoustic signal for some patients, the perceptual assessments were not highly correlated with acoustic measures for individual patients, and the perceptual analysis group data did not show a significant change with time during treatment, in contrast to the significance of change in acoustic measures. The data demonstrate that acoustic measures of jitter, shimmer, and signal-to-noise ratio improve significantly with antisecretory and antireflux treatment of chronic posterior laryngitis, and that for individual patients, these are changes that are detected by trained listeners, but not at statistically high levels of confidence.

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