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PubMed1995

"Pure" striatonigral degeneration and Parkinson's disease: a comparative clinical study.

Striatonigral degeneration (SND) is difficult to diagnose in vivo. The purpose of this study was to detect the best indicators for an early and reliable diagnosis of the disease. Eighteen patients clinically diagnosed as having SND were selected with rigorous inclusion criteria and compared to 18 patients with Parkinson's disease (PD) matched for age and disease duration. Apart from dysautonomia, the principal discriminant clinical features that distinguished SND from PD were the early appearance of the following symptoms and signs: (a) severe and atypical progressive parkinsonism characterized by bilateral bradykinesia and rigidity, slowness of gait, postural instability, and falls, and poor or absent response to adequate levodopa treatment; (b) increased tendon reflexes associated or not with frank pyramidal signs, severe dysarthria, and less consistently, dysphagia, stridor, antecollis, and stimulus-sensitive myoclonus, which, when present, are highly suggestive of the disease.

Aged↗
PubMed1997

Multiple system atrophy: a review of 203 pathologically proven cases.

We report the clinicopathological features of 203 cases of pathologically proven multiple system atrophy (MSA) from 108 publications up to February 1995. The majority of patients showed symptoms in their early fifties, and men were more commonly affected than women (ratio of 1.3:1). Most patients suffered from some degree of autonomic failure (74%). Parkinsonism was the most common motor disorder (87%), followed by cerebellar ataxia (54%) and pyramidal signs (49%). The response to levodopa was poor in most patients, but there was a subgroup with a good response, who also often developed axial levodopa-induced dyskinesias. Other characteristic features included severe dysarthria, stridor, and, in a few patients, contractures and dystonia (antecollis). Mild or moderate intellectual impairment occurred in some cases, but severe dementing illness was most unusual. The main pathological change comprised cell loss and gliosis in the putamen, caudate nucleus, external pallidum, substantia nigra, locus ceruleus, inferior olives, pontine nuclei, cerebellar Purkinje cells, and intermediolateral cell columns of the spinal cord. However, other neuronal populations were also involved to varying degrees, such as the thalamus, vestibular nucleus, dorsal vagal nucleus, corticospinal tracts, and anterior horn cells. Characteristic glial and/or neuronal cytoplasmic inclusions were identified in all cases in which they were sought, irrespective of clinical presentation. Akinesia correlated with the degree of nigral and putaminal cell loss, whereas rigidity was related only to the later. Tremor was unrelated to cell loss at any site. Ataxia correlated with the degree of olivopontocerebellar atrophy. Pyramidal signs were associated with pyramidal tract pallor. Our analysis also confirmed an association of postural hypotension with intermediolateral cell column degeneration.

Aged↗
PubMed2002

Series of laryngomalacia, tracheomalacia, and bronchomalacia disorders and their associations with other conditions in children.

Laryngomalacia, bronchomalacia, and tracheomalacia are commonly seen in pediatric respiratory medicine, yet their patterns and associations with other conditions are not well-understood. We prospectively video-recorded bronchoscopic data and clinical information from referred patients over a 10-year period and defined aspects of interrelationships and associations. Two hundred and ninety-nine cases of malacia disorders (34%) were observed in 885 bronchoscopic procedures. Cough, wheeze, stridor, and radiological changes were the most common symptoms and signs. The lesions were most often found in males (2:1) and on the left side (1.6:1). Concomitant malacia lesions ranged from 24% for laryngotracheobronchomalacia to 47% for tracheobronchomalacia. The lesions were found in association with other disorders such as congenital heart disorders (13.7%), tracheo-esophageal fistula (9.6%), and various syndromes (8%). Even though the understanding of these disorders is in its infancy, pediatricians should maintain a level of awareness for malacia lesions and consider the possibility of multiple lesions being present, even when one symptom predominates or occurs alone.

Adolescent↗
PubMed2002

Crouzon syndrome: association with absent pulmonary valve syndrome and severe tracheobronchomalacia.

Airway obstruction is common among patients with craniosynostosis. We describe an infant with a clinical and genetic diagnosis of Crouzon syndrome who presented with respiratory distress and heart murmur in early neonatal life. Cardiac evaluation revealed absent pulmonary valve syndrome. She needed intubation at age 1 month, and repeated trials of extubation failed because of marked respiratory distress, stridor, and severe expiratory obstruction and wheezing. Correction of her cardiac anomaly did not relieve her respiratory distress; only after endobronchial stenting and tracheostomy was it possible to gradually wean her from mechanical ventilation. This case report demonstrates and discusses the different causes of airway obstruction in Crouzon syndrome and the morbidity and mortality that can result from pulmonary involvement in this craniosynostotic syndrome. It also demonstrates the difficult therapeutic challenge created by the combination of cardiopulmonary abnormalities in Crouzon patients.

Bronchial Diseases↗
PubMed2003

Late-onset respiratory distress after inhalation of laundry detergent.

Accidental poisoning with household cleaning products can pose significant risks to children. Exposure to granular laundry detergents accounts for a number of calls each year to poison control centers, though few of these exposures result in hospitalization. While caustic gastrointestinal injury resulting from ingestion of these highly alkaline cleaning agents is well-recognized, few reports address the potential damage to the respiratory tract that can occur following ingestion or inhalation of granular laundry detergent. We present a previously healthy 1-year-old who presented to the emergency department with Late-onset stridor and increased work of breathing following presumed inhalation of granular laundry detergent. Parents, primary care providers, and emergency department physicians need to be aware of the potential toxicity of these widely used household products.

Administration, Inhalation↗
PubMed2003

Clinical characteristics of children with tracheobronchial anomalies.

Tracheobronchial anomalies (TBA) originate between the third and sixteenth week of gestation, and they primarily affect the main bronchi. The reported incidence varies between 1-3% of pediatric endoscopic studies. The objective of our review was to describe the clinical characteristics of patients with TBA diagnosed by flexible bronchoscopy (FB). During the period from March 1993-May 2001, we performed 580 FB at the Pediatric Services of the Catholic University Hospital. During this study period, 52 patients (9.65%) had a TBA (32 males, or 61.5%), with a mean age of 21.2 months (range, 7 days to 6 years). In 39 cases (75%), the diagnosis was made under age 2 years. Thirty-six patients with symptoms related to TBA were symptomatic (70%), and in 16 cases (30%) the TBA was an accidental finding during FB. The main clinical manifestations were recurrent atelectasis of the right upper lobe (RUL), recurrent pneumonia, or congenital stridor. Most of the TBA were localized at the RUL bronchus (47%) and were characterized by an anomaly at its origin, either agenesis or a supernumerary bronchus. Also, we found patients with tracheal bronchus and congenital tracheal stenosis. In 6 patients (12%), we had more than one TBA, the most frequent being the association between RUL and RML anomalies. In 12 cases we found another congenital airway anomaly, mainly laryngomalacia. Patients had associated diseases, such as genetic disorders in 16 cases (particularly Down syndrome), and congenital cardiopathies. In summary, in our clinical experience, TBA are more frequent than previously reported. The majority of young patients have symptoms or signs, and most are localized to the RUL. We found patients with more than one TBA, laryngomalacia associated with TBA, and at a high frequency related to Down syndrome.

Bronchi↗
PubMed2003

Airway anomalies in children with Down syndrome: endoscopic findings.

Down syndrome (DS) is the most common chromosomal anomaly in humans. Numerous congenital malformations associated with DS have been described. However, there are insufficient data available about airway anomalies. Our objective was to characterize the clinical presentation, frequency, and type of airway anomalies in a population of patients with DS. A retrospective evaluation of flexible bronchoscopies performed in 24 DS patients due to significant respiratory morbidity was compared to the findings in 324 non-DS patients during the same time period. The procedure was carried out under sedation, using an Olympus BF3C20 bronchoscope. The main indications for the procedure were atelectasis of the right upper lobe (12/24) and stridor (7/24). The most common associated conditions were congenital heart disease (12/24) and reactive airways disease (12/24). The most important endoscopic findings were: laryngomalacia (12/24), tracheomalacia (8/24), tracheal bronchus (5/24), and bronchomalacia (5/24). Only six patients had a normal examination. Multiple airway anomalies (>/=2) were a common finding in this series. We conclude that patients with DS and respiratory symptoms have a high incidence of airway anomalies compared to non-DS patients. The clinician should have a high index of suspicion for airway anomalies in DS patients with respiratory symptoms.

Adolescent↗
PubMed2004

Recurrent respiratory papillomatosis in a survivor of extreme prematurity.

Recurrent respiratory papillomatosis (RRP) is a rare disease in children. Previous reports suggested that prematurity and early age of presentation were poor prognostic factors. We report on a 24-week premature infant who presented with stridor, weak cry, and hoarseness of voice at age 9 months (corrected age), in whom the diagnosis of RRP was not made until age 21 months (corrected age). Laser excision of RRP was subsequently performed, and the child is still surviving at age 2.5 years. RRP should be considered in the differential diagnosis of airway problems in survivors of extreme prematurity; the prognosis is not uniformly poor in premature infants.

Endoscopes↗
PubMedDate not supplied

The diagnostic effectiveness of the flexible bronchoscope in children.

Over a 5-year period 1,000 pulmonary endoscopic procedures (172 laryngoscopies, 828 bronchoscopies) were performed in children less than 10 years of age using flexible fiberoptic bronchoscopes, with sedation and topical anesthesia. An endoscopic diagnosis of direct relevance to the primary indication for the procedure was established in 76% of the cases; in an additional 15%, abnormalities relevant to a secondary indication were found. Findings were normal in 9% of the cases. The bronchoscope was most useful in the evaluation of patients who had stridor, atelectasis, persistent wheezing, or a suspected foreign body for which there was insufficient evidence to warrant open-tube bronchoscopy, and for patients who had tracheostomies. The high diagnostic yield and low complication rate strongly support the use of the flexible bronchoscope in the diagnostic evaluation of infants and children who have a variety of pulmonary problems.

Bronchi↗
PubMedDate not supplied

Management of children hospitalized for laryngotracheobronchitis.

During a 12-month period, 527 consecutive admissions for laryngotracheobronchitis (LTB) were reviewed to determine the epidemiology of hospitalized LTB patients and to better define patients who may benefit from therapy other than close observation. Viral cultures were obtained in 442 patients and were positive in 70%. Disease severity at the time of admission was unrelated to patient age or sex. Duration of hospitalization, however, was inversely related to age (p less than 0.001). Laboratory investigations were rarely abnormal or of therapeutic value. Patients who on admission had stridor without sternal and chest wall retractions recovered rapidly and spontaneously; they were frequently discharged within 48 hours and never required artificial airways. Children who had sternal and chest wall retractions on admission experienced longer hospitalizations, frequently received medical intervention such as aqueous mist therapy or racemic epinephrine, and had a 6% risk of requiring artificial airway support. This group of children should be studied selectively for the benefits of specific medical therapies and diagnostic evaluations.

Age Factors↗
PubMed1988

Tracheomalacia and bronchomalacia associated with Larsen syndrome.

Bronchomalacia has not previously been described in association with Larsen syndrome. In this article, three children with Larsen syndrome are reported. All three patients have tracheomalacia, and one of them has diffuse bronchomalacia diagnosed at flexible fiberoptic bronchoscopy. The patients' symptoms of airway obstruction include stridor, cyanosis, apnea, and recurrent pneumonias. Recognition of these abnormalities may allow the institution of supportive therapy.

Abnormalities, Multiple↗
PubMed2005

Lower airway inflammation in infants with cystic fibrosis detected by newborn screening.

Controversy exists over whether the lower airway inflammation that characterizes cystic fibrosis (CF) is initiated primarily by the genetic defect. To determine if inflammation precedes infection, we examined bronchoalveolar lavage (BAL) fluid cytology, cytokines (interleukin (IL)-1beta, IL-4, IL-5, IL-6, IL-8, IL-10, and tumor necrosis factor-alpha), and free neutrophil elastase activity from 70 CF (aged 1.5-71 months) children detected by newborn screening and 19 (aged 2.0-48 months) controls with chronic stridor. CF subjects were selected and categorized as pristine (13 aged </= 6 months, lacking prior respiratory symptoms and exposure to antibiotics, and without respiratory pathogens on BAL), infected (42 with viruses or >/= 10(5) colony-forming units/ml of pathogenic bacteria in BAL), and uninfected (15 aged > 6 months, asymptomatic, not taking antibiotics at bronchoscopy, and free of pathogens in their BAL). To further resolve if inflammation develops without infection, inflammatory mediators in paired annual BAL samples from 38 CF subjects were measured, and results were grouped according to whether BAL showed persistence (n = 6), acquisition (n = 8), clearance (n = 13), or absence (n = 11) of infection. While pristine, uninfected, and control subjects had similar BAL profiles, infected patients showed elevated inflammatory indices, including increased IL-10 (P < 0.001). Pristine subjects had the fewest signs of inflammation. Analysis of BAL pairs found differences between the four infection groups for changes in neutrophil percentages, IL-8 (P < 0.001), and free neutrophil elastase (P = 0.009). Infection was associated with elevated inflammatory mediators in BAL fluid. In contrast, minimal or reduced signs of inflammation accompanied absence of eradication of infection from BAL fluid. We conclude that in CF, infection initiates and sustains airway inflammation.

Bronchoalveolar Lavage Fluid↗
PubMed1995

A neural network approach for the determination of interhospital transport mode.

We report on the construction of neural networks for determining whether pediatric patients requiring transport to a tertiary care center should be moved by air or by ground. The networks were based on the functional-link net architecture. In two experiments, feedforward supervised-learning neural nets were trained with examples of an expert's decisions and then were used in a consulting mode to provide advice on cases not previously encountered. Training and validation were performed by a combination of the k-fold cross-validation and leaving-one-out sampling methods. Use of the functional-link net rather than the customary backpropagation net enabled us to carry out the training with fairly large amounts of data in realistically short time periods. In the first experiment, capillary refill, skin color, and stridor were consistently the input variables that were most strongly associated with the decision output. In both experiments, the networks were validated by comparing their performance retrospectively against the determination of an expert pediatric transport physician. The network was trained based on the expert's opinion about the correct mode of transport for each case with error rates of less than 10(-5).

Artificial Intelligence↗
PubMed1991

Mediastinal masses in childhood: a review from a paediatric pathologist's point of view.

From 1970 to 1989, 121 children with mediastinal masses of various sorts were seen in the Department of Pathology, Royal Children's Hospital, Melbourne. The series is considered representative of the true incidence of these conditions in the state of Victoria, which had an average paediatric population during the time of this series of 900,000 children. The commonest cause of a mediastinal mass was NHL (36 cases). This was followed by HD (24 cases), then neuroblastoma and ganglioneuroma (16 and 9 cases respectively), duplication cysts (10 cases), teratomas (7 cases), neurofibroma (4 cases) and lymphangioma (3 cases). A great variety of rare conditions made up the remainder of the series and included mediastinal abscess, thymic cyst, pericardial cyst, accessory lobe of lung, plasma cell granuloma, fibromatosis, paravertebral Ewing's tumour, carcinoid tumour and neurofibrosarcoma. Presentation of the children with NHL was often acute with respiratory distress, while the child with HD was usually older and symptoms were more often systemic than local. The surgeon's role in diagnosis of these most frequently encountered mediastinal masses can be crucial and biopsy when indicated must be carried out with great care to produce material that is adequate for diagnosis and for the performance of cell marker studies and chromosome analysis. Neuroblastoma (NBL) and ganglioneuroma (GN) together were the third largest group. Children with neuroblastoma were usually young; 15 of the 18 cases were less than 2 years old. One-third of the infants with neuroblastoma presented with paraplegia and one-third with respiratory symptoms including wheeze, stridor and respiratory difficulty. Three children had Horner's syndrome. Prognosis of children with thoracic neuroblastoma is very good and contrasts with the poor outlook for those with abdominal neuroblastoma. Stage at presentation is probably the most important single prognostic variable. Ganglioneuroma presents at a later age than neuroblastoma and symptoms may be present for a long time or may be completely absent. Catecholamines, usually raised in neuroblastoma, are mostly normal in ganglioneuroma. Duplication cysts were the next most frequent group. Symptoms can often be acute and life threatening, although in three of our ten cases the cyst was an incidental finding on chest X-ray. However, only three of our patients had a normal respiratory examination. Teratomas were usually large and more often benign than malignant. Excision is the mandatory treatment and is usually curative. Although teratomas in young infants are often cellular and composed of many immature tissue types, their behaviour is benign.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1996

[Malignant tracheal tumors--surgical experiences in 6 patients with primary malignancies of the trachea. Current diagnosis and therapy].

In a retrospective study six patients with malignant tumours of the trachea located distal to the cricoid and proximal to the carina tracheae were operated on during the period of December 1983 to July 1995 in the Department of Thoracic Surgery in Hannover (Heidehaus). Histopathological examination revealed two adenoid cystic carcinomas, two squamous cell carcinomas, one mucoepidermoid carcinoma, and one low-grade sarcoma. Laser bronchoscopic resection was performed in one patient and tracheotomy one other avoid imminent asphyxia. Physical examination mainly showed a range of symptoms such as stridor and dyspnoea; spirography showed increased airway resistance, and X-ray of the trachea was important in the diagnostic process. The tracheal tumours were diagnosed by histopathological examination of excised material obtained by bronchoscopy. Three patients underwent resection and primary reconstruction of the trachea, with a length of resection between 2.0 and 3.5 cm and end-to-end anastomosis. Endotracheal afterloading was necessary in the case of one female patient with tumour infiltration of the proximal end of the upper trachea. Neoadjuvant irradiation was followed by resection of the whole trachea and implantation of a tracheal prosthesis (Neville) in the case of a patient with extensive endo- and extraluminal tumour infiltration. An extensive recurrence led to the death of this patient 5 months after the surgical intervention. Because of the distal location, resection of the tracheal bifurcation was necessary in two patients, in one combined with a pneumonectomy on the right side. Stenosis of the main bronchus and development of granuloma made stent implantation unavoidable. Dislocation of the stents and recurrent pneumonia caused the patients deaths 74 days and 18 months postoperatively. On follow up 17, 93, and 120 months postoperatively none of the other patients had recurrences. Current diagnostic and therapeutic options for malignant tracheal tumours are discussed.

Adult↗
PubMed1996

Imaging features in 35 cases of submucosal laryngeal mass lesions.

We evaluated the clinical and radiological findings in 35 patients with submucosal laryngeal masses. The presenting symptoms were hoarseness, stridor, dysphagia and external neck mass. In 20 cases an important delay between the onset of symptoms and direct laryngoscopy was found. There was a considerable delay between laryngoscopy and definitive diagnosis in 13 cases due to repeated negative biopsies. Computed tomography pointed out the location and extension of the masses in all cases. In 27 mass lesions CT allowed correct prediction of the malignant or benign character of the lesion. In 6 cases no reliable differentiation could be made. The lesion was mischaracterised in 2 cases. Magnetic resonance imaging was also performed in 4 patients, and showed the extent of the lesion better; in 1 case MRI narrowed the differential diagnosis. In the case of a negative biopsy result, radiological findings should incite further investigation, reducing the possible delay between the onset of symptoms and definitive diagnosis.

Adult↗
PubMed1978

Involvement of the larynx in a congenital "myopathy", unilateral aplasia of the arytenoid, micrognathia, and malformation of the brain--a new syndrome?

Neuromyopathic changes were found in various limb muscles and in intrinsic laryngeal muscles of a two month old girl. She had been noted to have micrognathia, arthrogryposis and congenital stridor and died as a result of respiratory insufficiency and aspiration. Autopsy revealed an absent left arytenoid cartilage and severe histogenic abnormalities of the brain. Although the muscles involved showed a mainly myopathic pattern, marked signs of peripheral neurogenic involvement were present. These differed from motor neuron disease or aplasia of anterior horn cells. These findings cast a new light on the discussion of unclassified congenital myopathy resembling the picture of congenital muscular "dystrophy". This is the first case of congenital neuromyopathy in which involvement of intrinsic laryngeal muscles has been demonstrated morphologically.

Arthrogryposis↗
PubMed1989

A case of combined Farber and Sandhoff disease.

We describe a patient with the biochemically established combination of Farber and Sandhoff disease. A 6-month-old girl of consanguineous Turkish parents presented with hoarseness, stridor, scattered skin nodules, painful swelling of hand joints and ankles, and cherry-red macular spots. Until the age of 2 years her motor and physical condition deteriorated distinctly, however her mental state remained unchanged. A biopsied skin nodule disclosed lysosomal inclusions within storage cells that were typical of Farber disease (curved tubular structures). However, other inclusions (e.g. zebra bodies) were also found. Biochemical findings included ceramide accumulation in skin nodules and cultured fibroblasts, impaired ceramide degradation on loading of cultured fibroblasts with radioactive sphingomyelin, profoundly decreased ceramidase activity in fibroblasts as well as total beta-hexosaminidase activity in fibroblasts and serum, absent hexosaminidase A and B bands on cellogel zymograms, increased urinary oligosaccharide excretion of the Sandhoff disease type, and a partial reduction of ceramidase and total beta-hexosaminidase activities in fibroblasts from her father. A diagnosis of combined Farber and Sandhoff disease was made. The effect of both enzyme deficiencies on the clinical manifestations in this patient and the genetic basis of this combination require further studies.

Biopsy↗