Hyperimmunoglobulinemia D or periodic fever syndrome. Cutaneous manifestations in 3 cases

INTRODUCTION: We describe 3 cases of hyperimmunoglobulinemia D syndrome (hyper-IgD syndrome). CASES REPORT: As the 2 first cases are conventional with an onset in childhood, the third one appeared later suggesting possibility of acquired syndrome. The 3 cases presented with one or several skin eruptions during febrile attacks. COMMENTS: Up to now, 64 cases of this syndrome have been described. Skin lesions are observed in 80 p. 100 of patients. In this particular clinical context, they must lead to the diagnosis. This 3 cases and the review of literature show that skin manifestations are polymorphic, transient, not very symptomatic and not correlated to IgD rates. Histological examination may reveal urticarial reaction with leucocytoclasic vasculitis, where IgD could directly or not interact.     

Transient pancytopenia after non-A non-B non-C acute hepatitis preceding acute lymphoblastic leukemia

Transient pancytopenia preceding childhood acute lymphoblastic leukemia (ALL) is an unfrequent but well-known event. The association of this preleukemic syndrome with hepatitis is extremely rare, with only two such cases having been published in the literature. We report the case of a 16-year-old boy who was diagnosed with B-cell type ALL that was preceded by transient pancytopenia with absent hemopoietic cells in the bone marrow following a seronegative hepatitis episode. The clinical, morphologic and immunophenotypic features of this patient are described and the literature on this preleukemic syndrome reviewed, with special emphasis being made on its differential diagnosis with hepatitis-associated aplastic anemia.     

Diagnosis of pregnancy with a radioreceptor assay for hCG

To date a number of cases of nephrologic syndrome, linked with a recently passed pregnancy or with the use of oral contraceptives, have been described in the literature. Microscopic analyses of the pathological basis of this syndrome are examined, centering on the infarctic nature of the nerve bundles. There is some disagreement on the type of differential treatment indicated. Treatment, which is generally heparin, must depend on the state of advancement of the syndrome. The syndrome is not well understood yet, but should not be considered completely alien.     

Inhibition of cytochrome P-450 3A (CYP3A) in human intestinal and liver microsomes: comparison of Ki values and impact of CYP3A5 expression

Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. This pleiotropy has implied genetic heterogeneity and prompted reviews of previously reported cases of Seckel syndrome. As a result, the characteristic diagnostic features of Seckel syndrome have been highly debated. Although deletions in chromosome 2q have been described, to date, no genetic defect has been defined. We report three cases of Seckel-like syndrome in siblings from nonconsanguinous Caucasian parents. In addition to the typical Seckel phenotypic features, all three cases were characterized by severe hydrocephalus. We review the literature and propose that there is a spectrum of Seckel conditions that share some common key features, but also demonstrate a wide range of phenotypic features.     

RS3PE: a clinical diagnosis, a prognosis more simple than its name

INTRODUCTION: RS3PE syndrome (remittive symmetrical seronegative synovitis with pitting edema) was first described by MacCarthy in 1985. It is a rare type of seronegative polyarthritis occurring in the elderly. METHODS: Retrospective report of 13 cases (including eight male and five female patients; mean age 76.7 +/- 3.7 years) and search for previously reported cases, using the Medline database. RESULTS: Pitting edema was present at onset of disease in nine cases. Joint arthritis was bilateral, occurring in the wrist (13 cases), shoulder (six cases), elbow (six cases), knee (six cases), ankle (four cases), metacarpophalangeal (four cases) and hip (one case). Radiographies were normal. Mean erythrocyte sedimentation rate was 62 +/- 19 mm at the first hour and mean C-reactive protein level was 73 +/- 35 mg/L. Mild cholestasis was present in four of the seven patients for whom data were available. HLA B7 was present in five out of 12 cases (42%). Improvement was favorable, occurring over 7 months. Mean follow-up was 22.2 months. Fifty-nine other cases have been described in the literature. This syndrome, which affects the elderly, appears to be rare. Its clinical presentation is quite constant, with sudden onset, symmetrical polyarthritis and pitting edema. Its evolution, often long, is favorable. Rheumatoid arthritis and polymyalgia rheumatica are the main differential diagnoses. CONCLUSION: Due to its favorable outcome and the usefulness of a mild corticotherapy, this syndrome, though rare, should be diagnosed where necessary in elderly patients.     

Treatment of primary varicose veins: an assessment of the combination of high saphenous ligation and sclerotherapy

Respiratory failure (RF) requiring mechanical ventilation (MV) is a frequent, critical complication of bone marrow transplantation. RF has a global survival rate at 6 months of between 2 and 5%, depending on the patient group. Recently, a type of RF associated with hemoperipheric recovery has been described. This is known as engraftment syndrome. We have documented two cases of RF that follow the engraftment syndrome criteria and needed MV. Both patients had all the features identified for a bad prognosis described in the literature. Both are alive after being discharged from the hospital 20 months ago.     

In vitro isolation and cultivation of Cowdria ruminantium under serum-free culture conditions

Imagined halitosis is poorly documented in the psychiatric literature. It is perhaps best thought of as a symptom rather than as a specific syndrome (a collection of symptoms that co-vary together). Many of the cases with imagined halitosis described in the literature resemble the psychiatric syndrome of social phobia.     

Klinefelter syndrome with hypogonadotropic hypogonadism and absence of Leydig cells

Klinefelter's syndrome is characterized by hypergonadotropic hypogonadism, 47,XXY karyotype, gynecomastia, azoospermia and testicular atrophy with hyalinization of seminiferous tubules and hyperplasia of Leydig cells. Some cases of Klinefelter's syndrome with unexplainably low levels of gonadotropins have been reported in the literature. Two additional cases of Klinefelter's syndrome with hypogonadotropic hypogonadism and absence of Leydig cells are described.     

Villoglandular adenocarcinoma of the cervix uteri. A case report and analysis of the literature

The authors described a case of villoglandular adenocarcinoma of the uterine cervix treated with radical hysterectomy (Piver type 2) and pelvic lymphadenectomy. The cytohistologic and clinical aspects of this rare neoplasia are debated also considering the literature data where, until 1996, 41 cases of villoglandular adenocarcinoma of the uterine cervix were reported (10 cases at Stage 0 and 31 cases at Stage IB), all with favorable prognosis.     

Long-term propofol infusion and airway management in a patient with Goldenhar''s syndrome

SAPHO syndrome is characterized by osteoarticular involvement of ventral chest wall in the form of sternocostoclavicular osteoarthritis and hyperostosis and skin changes such as palmoplantar pustulosis and acne. Occasionally, psoriatic lesions and sacroiliitis are observed. However, despite the higher frequency of psoriasis in this syndrome, its inclusion in psoriatic arthropathy spectrum is not clearly established. The authors report three cases of SAPHO syndrome in psoriatic patients commenting on the difficulty in differentiating this entity from psoriatic arthritis as well as its relationship with seronegative spondyloarthropathies. This disease has been described mainly in Japan and only a few cases of this disease have been reported in the European or American literature.     

Laparoscopic treatment of a diaphragmatic hernia through the foramen of Morgagni in children. A case report and review of eleven cases reported in the adult literature

A new case report of laparoscopic repair of a diaphragmatic hernia through the foramen of Morgagni in a 11-year-old boy with Down's syndrome is described. The review of 11 other cases in the adult literature illustrated the various aspects of this laparoscopic approach.     

Interhemispheric subdural hematoma in adults: case reports and a review of the literature

The interhemispheric subdural hematoma is a relatively uncommon type of subdural hematoma, especially seen in patients with blood clotting disturbances. When its mass becomes sufficiently large, specific neurological abnormalities such as hemiparesis and signs of the falx syndrome are seen. Treatment can consist of conservative observation or craniotomy and is dictated by the clinical course. Conservative management is the treatment of choice for patients without disturbances of consciousness and for patients with stable clinical conditions. Surgical treatment is necessary in patients with progressive deterioration. Three case reports are presented, as well as a review of 64 cases described in the literature. The salient aspects of this clinical entity are discussed.     

Traumatic transient Klüver-Bucy syndrome

A case of transient Klüver-Bucy syndrome after a gunshot wound through the head is presented. We have found no other case of posttraumatic Klüver-Bucy syndrome described in the literature. The original criteria for the syndrome are reviewed and compared with findings in previously reported human cases.     

Neuroleptic malignant syndrome in the elderly: description of 4 patients

The neuroleptic malignant syndrome is a fulminant, life-threatening reaction to neuroleptic medication. It is characterized by fever, rigidity, autonomic disfunction and fluctuating consciousness. Usually described in young adults with psychiatry illnesses, its presentation in an elderly population has received scant attention in medical literature. We describe the clinics and evolutive characteristics of 4 cases of this syndrome in elderly which a mean age of 78 years. We emphasise about the existence of a brain organic illness with dementia as a predisposing factor, and the correct evolution of the showed cases in probably relation with measures and drug therapy.     

Cognitive-behavioural therapy for idiopathic burning mouth syndrome: a report of two cases

Two cases of burning mouth syndrome (BMS) that were successfully managed with cognitive-behaviour therapy (CBT) are reported. The principles and application of CBT are described. The cases presented demonstrate the important role that this type of psychological approach can have in the management of patients with BMS.     

Symptomatology and pathogenesis of Fisher's syndrome

The symptomatology of Fisher's syndrome is described with reference to observations made on six own cases as well as to fifty cases described in the literature, and it is shown that, first, ataxia is not an obligatory symptom and that, second, symptoms are an expression, not of a lesion of the brain stem, but of an affection of the peripheral neuron.     

Malignant meningioma in Gorlin's syndrome: cytogenetic and p53 gene analysis. Case report

Gorlin's syndrome, also known as multiple basal cell carcinoma syndrome, is a familial tumor condition with autosomal-dominant inheritance. Patients develop multiple basal cell carcinomas beginning in childhood. They also have a typical dysmorphic facies, skeletal malformations, and a particular type of epithelial cyst of the jaws. Recent evidence localizes a Gorlin's syndrome locus on chromosome 9 at band q31. Both tumors and malformations of the central nervous system occur with Gorlin's syndrome. Medulloblastoma is the primary brain tumor most frequently associated with this syndrome; over 40 such cases have been reported. However, only seven cases of meningioma associated with Gorlin's syndrome have been described. The authors report the case of a woman with Gorlin's syndrome whose mother and maternal grandfather also had the condition. The patient was found to have a medulloblastoma at 4 years of age and presented with a large bifrontal meningioma at 19 years of age. The meningioma was histologically malignant and had a complex karyotype with multiple translocations including a t(5;9) with the breakpoint on chromosome 9 located at 9q32. The constitutional karyotype of the mother was normal. No mutations of exons 5 to 9 of the p53 gene were detected using single-stranded conformational polymorphism analysis.     

Spindle-cell hemangioendothelioma with monomelic and multifocal form in a child

BACKGROUND: Spindle-cell hemangioendothelioma is a soft tissue skin tumor recently identified histologically. It can occur at all ages but generally is seen in young adults. The lesion usually occurs as a subcutaneous mass involving the limbs. CASE REPORT: A particular case of spindle-cell hemangioendothelioma was observed in an 18-month-old child. The lesions progressed with a monomelic distribution on the upper limb. Histological diagnosis of spindle-cell hemangioendothelioma was achieved at the age of 6 years. DISCUSSION: The age of the patient and the monomelic distribution is particular in this case of spindle-cell hemangioendothelioma, inciting a nosological discussion on this disease and other vascular tumors of childhood and the relationship of these types of lesions with Maffucci's syndrome. Although no anomalies have been detected to date, radiological surveillance is needed as cases of Maffucci's syndrome associated with spindle-cell hemangioendothelioma is described in the literature.     

Parents'' evaluations of wheezing in their children with asthma

Two cases of Behcet's disease associated with myelodysplastic syndrome are described. Both patients showed a chromosomal abnormality, trisomy 8. Based on the laboratory findings in our patients and a careful review of the literature of similar cases, the association of the chromosomal abnormality with the pathogenesis of Behcet's disease is suggested.