Kinsbourne syndrome: review of our cases

INTRODUCTION: The childhood opsoclonus-myoclonus or Kinsbourne syndrome, is a uncommon process, of acute or subacute beginning, which affects infant and children. It's course is characterized by opsoclonus, polimyoclonias and cerebellar ataxia. The disease is frequently associated to neuroblastoma (46%). MATERIAL AND METHODS: We present a retrospective study on 9 patients, emphasizing the clinical presentation and the evolution aspects. RESULTS AND CONCLUSIONS: We found changes in the EEG in three cases. Most surprising is the scarce incidence of neuroblastoma, which has been found only in a one out of nine patients. We found three cases with relapse during the treatment or on withdrawal and one of them relapsed twice again. The evolution has been variable, since 5/9 patient have presented some type of mild or moderate neuro-psychological sequelae. Out of three patient with relapses, two presented permanent neurological sequelae. A patient which suffered three relapses, is also the one which presents more serious sequelae.     

Amyotrophic neuralgia: review of 37 cases

INTRODUCTION: Amyotrophic neuralgia is characterized by pain of acute or subacute onset, accompanied by weakness and occasionally by atrophy of the brachial muscles, of unknown origin. We present our experience over the past 20 years. PATIENTS AND METHODS: We made a retrospective review of 37 patients with the above diagnosis, following the criteria of other series of such cases published in the literature. RESULTS: Twenty four of the patients were men and thirteen were women. The average age was 38 (11 to 71). A relevant clinical history was recorded in 9 cases; infection (5), surgery (4), remote trauma (3) and vaccination (1). There was a painful onset of the condition in 32 patients; objective weakness of the superior brachial plexus (30), inferior (5) or both (2). Atrophy was present in 23 and hypoaesthesia in 13. Two patients had fasciculations and 9 had hyperreflexia. In all patients electromyographic studies showed a neurogenic pattern of denervation of the muscles clinically affected. The severity of the condition was divided into mild (18), moderate (16) and intense (3). Prognosis was good in 24 and sequelae remained in 11. There were 2 bilateral cases and 2 relapses but no familial cases. CONCLUSIONS: There was a ratio of men/women of 1.8:1 and onset usually when the patient was in his forties. Mild infection, surgery, remote trauma and vaccination were the commonest clinical factors. Onset was painful in 85%. Muscular weakness was predominantly in the superior brachial plexus (85%), followed by atrophy in 62%. There was hypoaesthesia in a third of the patients. Most cases were mild (50%) and made a complete recovery (70%). Our findings are similar to those described in most series in the literature.     

Erythema multiforme: a review of twenty cases

AIM: Evaluation of the clinical suitability of a new analytical method for the determination of bone mineral density (BMD) by means of SEQCT as well as a comparison with the established method. METHODS: In order to verify the stability of both systems, phantom measurements were performed on a lumbal spine torso as well as on 78 patients. 44 patients were examined by means of the established method and 34 according to the new method. Parallel measurements were possible in 15 patients. RESULTS: The phantom measurements proved a high stability of both methods. Regarding the absolute BMD the new method resulted in higher BMD values. This result was confirmed by parallel measurements in 15 patients. The new method demonstrated increased suitability due to less time consuming preparations. Dose reduced scan parameters could not be achieved in all patients, so that the time saving effect could not be considered. In these cases manual settings were required. CONCLUSION: A substitution of the established method for BMD measurement by means of SEQCT with the new method seems to be possible. However, the results will have to be corrected by the percentage of deviation from the default value of the quality phantom.     

Choledochal cyst: review of 74 pediatric cases

Cytokine-mediated apoptotic destruction of viral-infected cells, downregulation of virus production and inhibition of anchorage dependent (clonal) cell growth were evaluated using virus-transfected human hepatoblastoma (HepG2) cells. The cytokines evaluated were interferon alpha (IFN-alpha), tumour necrosis factor alpha (TNF-alpha) and thymosin alpha 1 (T alpha 1), all of which have previously been implicated in control of various viral infections. The viruses evaluated were Hepatitis B (HBV) and the transforming virus, SV-40. TNF-alpha-induced apoptosis in the HBV-transfected cell line and the control HepG2 cells but not the HepG2 cells transfected with SV-40 virus. IFN-alpha and T alpha 1 had no effect on apoptosis. TNF-alpha also prevented the clonal growth of the HBV-HepG2 and control HepG2 but enhanced the growth of the SV-40-transfected HepG2 cells. IFN-alpha inhibited the clonal growth of all three cell lines in contrast to T alpha 1 which inhibited the clonal growth of only the HBV-transfected cells. Although TNF-alpha, IFN-alpha, and T alpha 1 when given alone did not significantly inhibit HBV-DNA production in the culture supernatant from HBV-HepG2 cells, the combination of T alpha 1 and IFN-alpha resulted in a statistically significant inhibition of virus production. These studies demonstrate that HepG2 cells transfected with HBV and SV-40 are useful for defining the mechanisms of cytokine activity. The HBV-transfected cells are especially useful in defining possible in vivo differences in responses to cytokines with respect to HBV production, apoptosis and clonal cell growth. Multiple mechanisms through which different cytokines can influence HBV infection and hepatoblastoma growth were identified and the importance of defining effective combinations to improve therapy in vivo demonstrated.     

Wallenberg syndrome: a review of 25 cases

INTRODUCTION: Wallenberg's syndrome is one of the most common clinically recognized conditions due to brain stem infarct, which can nowadays be identified thanks to modern neuro-imaging techniques. We present a retrospective study of 25 cases admitted to our hospital in the past eight years, to evaluate epidemiological aspects and clinical findings and to correlate these with magnetic resonance topography. MATERIAL AND METHODS: Patients diagnosed in the Neurology Section of Hospital Xeral-Calde in Lugo between January 1989 and December 1997 as having Wallenberg's syndrome. RESULTS: There was a predominance of middle aged men presenting at 55.06 years of age (range 30- 78). Arterial hypertension was the main risk factor (52%). There was a progressive form of onset in most cases. The commonest symptom was dysphonia followed by dysphagia. The commonest finding on physical examination was ataxic gait (24 patients) MR was positive in 22 of the 23 cases in which this was done. There were different clinical findings depending on the site of the lesion, whether rostral, caudal or medial. This is considered in the discussion. In most cases the prognosis was good. The commonest sequel was ataxia. CONCLUSIONS: The results are similar to those in the literature. We emphasize the excellent correlation of clinical data and neuroimaging findings.     

Malignant thymoma: a review of 44 cases

Trisomy 12 is a frequent abnormality in chronic lymphocytic leukaemia (CLL). The biological importance of trisomy 12 is still poorly understood but it has been suggested that one or several genes are duplicated leading to malignant transformation. We present a case with amplification of 12q13-22 found in a clinically aggressive relapse of CLL. A smaller region, 12q13-15, was amplified most frequently and a YAC containing the MDM2 gene gave the highest number of signals. Additionally, in a subclone an amplicon containing at least 5 copies of a cosmid from 12q23-24 was detected. The case shows that small duplications of chromosome 12, not revealed by cytogenetic analysis, may occur in CLL. Also, it shows that cytogenetic clonal evolution can occur in CLL without morphological evidence of blast transformation. Our results indicate that the 12q13-15 region carries an important gene for CLL progression.     

Accidental hypothermia: a review of 62 cases

A retrospective review of all patients seen in an urban city-county emergency department over a 32-month period with a primary or associated diagnosis of hypothermia was performed using the emergency department encounter form and the inpatient chart of 62 cases (59 patients) with core temperatures of 35 C (95 F) or below. With this relatively large population, a general conclusion was reached about the presentation and natural history of this interesting entity. This permitted a defensible treatment regimen which is currently employed a this institution and which is offered for institutions in similar settings. The variance in clinical signs, laboratory values, electrocardiographic findings and complications encountered in this study are detailed against the background of a review of the findings of the current literature.     

Bronchopleural fistula: a review of 86 cases

A review of all the bronchopleural fistulas which developed following pulmonary resection in the Department of Cardio-Vascular and Thoracic Surgery of The London Hospital between 1953 and 1973 is presented. During this period 3150 pulmonary resections were performed for various conditions and 86 fistulas occurred, an incidence of 2-7 per cent. The aetiology, diagnosis and treatment of these fistulas are discussed.     

Mediastinal teratomas: review of 15 pediatric cases

One hundred fifty-three children with a teratoma presented to one hospital between 1970 and March 1992. The clinical and pathological features of 15 patients with mediastinal teratomas are reviewed; six were newborn and nine aged from infancy to 13 years. Thirteen patients including the six newborns presented with respiratory distress and all 15 patients had a mass on chest radiograph. A definite diagnosis of teratoma was not made preoperatively in any of these patients. At operation, a median sternotomy was used to approach seven anterior tumors and a lateral thoracotomy performed in the other eight patients. Histologically two were mature, 10 had immature elements, and three were malignant teratomas. The patients with malignant tumors were all over 12 years of age and died within 6 months of treatment. All six neonates had immature teratomas. Raised serum alpha-fetoprotein levels provided useful markers in two patients with recurrent tumors. Three conclusions can be drawn: (1) mediastinal teratomas are rare in children and frequently are not diagnosed before operation; (2) in newborns these tumors may be immature and present with respiratory distress; and (3) a median sternotomy gives excellent exposure for anterior mediastinal tumors.     

Choledochal cyst: a review of 19 cases

Nineteen cases of choledochal cyst are reviewed. Two distinct groups of patients were identified. Patients under one year of age, initially diagnosed as having biliary atresia, had a higher mortality rate, a higher incidence of severe cirrhosis with portal hypertension, and associated atresia or stenosis in the biliary tree. The second group, presenting between 3 and 20 years of age with more classic symptoms, had mild cirrhosis without portal hypertension and had associated choledocholithiasis and pancreatitis. It is suggested that the younger patients had a congenital form of cystic bile duct dilatation and that the older patients had an acquired form, perhaps related to a common channel with reflux of pancreatic juice into the common bile duct. Postoperative follow-up supports the current view that choledochocyst-jejunostomy with choleystectomy has a lower rate of long-term complications than does choledochocyst-duodenostomy.     

Acanthamoebiasis in Korea: two new cases with clinical cases review

OBJECTIVE: To compare mortality rates on hemodialysis (HD) to rates on continuous ambulatory/cyclic peritoneal dialysis (CAPD/CCPD), to contrast our results with those of other recent investigations, and to discuss reasons for discrepancies. DATA SOURCES: Patient-specific data obtained from the Canadian Organ Replacement Register on patients initiating renal replacement therapy (RRT) between 1 January 1990 and 31 December 1995 (n = 14 483). Recent mortality comparisons of CAPD and HD. MAIN OUTCOME MEASURES: Mortality rate ratio (RR) based on "as-treated" (AT) analysis incorporating treatment modality switches and adjusting for age, primary renal diagnosis, and comorbid conditions using Poisson regression. Hazard ratios (HR) were estimated using Cox regression and based on an "intent-to-treat" (ITT) analysis wherein patients were classified based on dialytic modality received on follow-up day 90. RESULTS: Adjusted mortality rates were significantly decreased on CAPD/CCPD relative to HD [RR = 0.73, 95% confidence interval (CI) = (0.69, 0.77)] based on the AT analysis. Most of the protective effect of CAPD/CCPD was concentrated in the first 2 years of follow-up post-RRT initiation. Based on the ITT analysis, the estimated CAPD/ CCPD effect was greatly reduced, with HR = 0.93 (0.87, 0.99). CONCLUSIONS: We provide further evidence that CAPD/CCPD is not an inferior dialytic modality to HD, particularly in the short term. Comparing mortality rates on CAPD/CCPD and HD is inherently difficult due to the potential for bias. Discrepancies between our results and those of previous investigations, and variability in findings among previous studies, relate to differences in clinical and demographic setting, patient populations, study design, statistical methods, and interaction between the dialytic modality effect and various other covariables.     

Pneumonectomy for chronic infection: fraught with danger?

Pneumonectomy for chronic lung infections has been avoided because of potential intraoperative and postoperative complications. A retrospective review of 13 cases requiring pneumonectomy for aspergillus (8), Mycobacterium tuberculosis (2), actinomycosis, Pseudomonas aeruginosa, and bronchiectasis revealed increased operating time, blood loss, and transfusion requirements. Operative records documented problems with dense adhesions, lack of an extrapleural plane, and distortion of hilar structures. Although mortality was acceptable (8%), early and late morbidity (total, 38%), especially bronchopleural fistula (23%), was significant. It is concluded that when justified, pneumonectomy for complete resection of chronic infection can be performed with acceptable risk. However, specific problems should be anticipated. This review has led to modifications in operative technique.     

Barodontalgia among flyers: a review of seven cases

Once referred to as "flyer's toothache," barodontalgia is defined as tooth pain occurring with changes in ambient pressure. It usually occurs in people who fly or dive. It can develop in conjunction with sinusitis, and in teeth experiencing pulpitis after restorative treatment, new and recurrent caries, intra-treatment endodontic symptoms, dental and periodontal cysts, or abscesses. Although the causal process of barodontalgia is not well understood, it may be related to pulpal hyperemia, or to gases that are trapped in the teeth following incomplete root canal treatment. Patients who are frequently exposed to changes in ambient pressure should be encouraged to follow good oral health practices, attend regularly-scheduled dental recall examinations and accept the timely completion of restorative treatment to minimize the possibility of developing barodontalgia. By employing a classification system to document cases of barodontalgia, dentists will be better prepared to provide appropriate and successful treatment. Seven case reports of barodontalgia are presented and compared to previously documented cases. The author also reviews the reasons why military flyers are more likely to develop barodontalgia than others, although the passengers and crews of commercial airliners may also suffer from this condition.     

CHARGE syndrome: report of 47 cases and review

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.     

Epithelioid sarcoma: a clinicopathologic review of 55 cases

OBJECTIVE: To identify any clinical and pathologic features of treatment modalities that are predictive of outcome in patients with epithelioid sarcoma, a rare slow-growing soft tissue tumor most commonly occurring in the distal extremities of young adults. DESIGN: We reviewed the institutional files for cases of epithelioid sarcoma for the period 1956 to 1991 and analyzed the effect of various factors on survival. MATERIAL AND METHODS: Fifty-five cases of epithelioid sarcoma were found, and the relevant clinical, pathologic, treatment, follow-up, and outcome features were assessed. RESULTS: All tumors were treated initially by operative resection. The recurrence rate progressively decreased with increasing aggressiveness of the initial operation; however, no difference was noted in metastatic rate. Overall, the recurrence rate was 38% and the metastatic rate was 47%. At the end of a mean follow-up of 102 months, 69% of patients had no evidence of disease, 27% had died of the disease, and 4% were alive with disease. Increasing tumor size, necrosis of more than 30%, and vascular invasion correlated significantly with a worse prognosis. CONCLUSION: Epithelioid sarcoma should be considered a malignant neoplasm with a significant potential for aggressive behavior, and close follow-up of affected patients should be maintained for many years. Initial treatment should be aggressive in an attempt to prevent recurrence.     

Primary carcinoma of female urethra: review of 20 cases

Twenty patients of primary urethral carcinoma in females are presented. Age group affected was between 40 and 60 years. Vague symptoms in early stage delayed the diagnosis in most patients. Surgery is the treatment of choice for meatal or anterior urethral lesions while combined Radiotherapy and surgery has been suggested as treatment for entire urethral lesions. In the present series 33% three years and 21% five years survivals were noted.     

Male cases of incontinentia pigmenti: case report and review

Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy. This document introduces a new male IP type II patient and reviews 48 males reported with IP. Twenty-eight of the 49 patients meet current criteria for diagnosis of IP type II. The phenotype is variable and the incidence of documented developmental delay is 25%. Five patients had Klinefelter syndrome (47,XXY). Most patients were reported prior to 1961 when chromosome analysis was not available. Biopsy and laboratory reports considered to be "consistent with" the diagnosis of IP were seen in patients meeting criteria as well as those who would not currently be given the diagnosis. The histologic findings considered diagnostic are varied. This variability may be accounted for by differences in stage of disease, biopsy site, histologic technique, and reporting style. Conversely, this may indicate that the diagnostic weight given to the biopsy should be reconsidered. Eosinophilia was not a consistent finding. Overall, differences in reporting, ascertainment, and length of follow-up lead to difficulty in interpreting or predicting the natural history of males with IP type II. Based on the existing literature, they appear to have a higher rate of mental retardation than the general population, but there does not appear to be a correlation between severity of physical and mental involvement. The presence of sex chromosome aneuploidy documented in the more recent cases emphasizes the need for chromosome analysis in any male patient suspected of IP type II.     

Adult polycystic kidney disease: a review of 100 cases

Herein we review 100 cases of adult polycystic kidney disease. Flank pain was the most common presentation in these cases. In 20% of the patients calculi were noted and 10% had obstruction. The average patient age at death was 57 years. The importance of tomography is emphasized with key radiographic features, such as bilateral large kidneys, inhomogeneous nephrogram, caliceal distortion and poorly defined renal margins. Cystic involvement of the liver and spleen may help to confirm the diagnosis. Differential diagnosis includes bilateral multiple simple cysts, angiomyolipomatosis and bilateral renal carcinomas.     

Hemispherectomy: a hemidecortication approach and review of 52 cases

Between 1975 and 1994, 52 hemispherectomies, of which two were anatomical and 50 hemidecortications, were performed at Johns Hopkins Medical Institutions. Eighteen patients were 2 years old or less. There were three perioperative mortalities and one patient died 9 months later from causes not related to surgery. One patient developed hydrocephalus 6 years postsurgery and has been treated effectively. Seizure control and the functional status of each patient were measured as outcome variables. Forty-six (96%) of the surviving patients were seizure free or had reduced seizures as of their last follow-up examination. Twenty-one individuals (44%) were participating in age-appropriate classes or working independently, 18 were classified as semiindependent, and nine children will likely depend on a lifetime of assisted living. The relationships between the outcome variables and the patient's age at surgery, the interval to surgery, and the etiology of the disease were compared. The authors' clinical experiences strongly suggest the importance of a multidisciplinary approach to patient selection and follow-up care. Moreover, anesthetic management of infant surgery is a major component of success.