Erdheim-Chester disease (ECD) is an uncommon, systemic xanthogranulomatous disorder, with distinct clinicopathological features, that is rarely expected preoperatively. We describe a case that presented in the brain of a 26-yr-old male patient and clinically mimicked the appearance of a neoplasm. The final diagnosis was a surprise. In retrospect, the diagnosis ...

In this retrospective study, the usefulness of a PCR performed on serum for primary diagnosis and monitoring of Mediterranean visceral leishmaniasis (MVL) was assessed. In the case of primary diagnosis of MVL, the serum PCR showed a sensitivity of 97% and a specificity of 95%, with positive and negative predictive ...

Nesidioblastosis is a term that was first introduced by Laidlaw in 1938 to define the diffuse proliferation of pancreatic islet cells budding from ductal epithelium. First described in neonates, it is widely recognized to be the primary cause of persistent hyperinsulinemic hypoglycemia in infants. In adults, insulinoma accounts for most ...

OBJECTIVE: To discuss, through the experience of a case report and extensive literature review, the best practices for the diagnosis and treatment of osseous metaplasia, which is the cause of secondary infertility. DESIGN: Case report. SETTING: In vitro fertilization unit in Athens. PATIENT(S): A 40-year-old woman with a 10-year history ...

PURPOSE: To report a rare case of lymphocutaneous Nocardia brasiliensis originating in the eyelid. DESIGN: Observational case report. METHODS: The clinical presentation, workup, and treatment of a case of lymphocutaneous Nocardia brasiliensis originating in the eyelid are presented. RESULTS: The patient presented with a preseptal cellulitis from an abrasion of ...

We present a case history of a 34-year old adult who aspirated a peanut. Peanut inhalation is a well-recognized condition in children, but is rare in adults. Diagnosis is often difficult and requires a high index of clinical suspicion. A brief review of the literature is presented.

Varicocele, whose association with male infertility has been clearly documented in the literature, is a common finding in adolescents and adult men, being diagnosed in 20-40% of infertile patients. A correct and early diagnosis of this affliction is of great importance because, in most cases, a timely correction, usually performed ...

INTRODUCTION: Neonatal disseminated herpes simplex virus (HSV) infection can cause rapidly progressive multiple organ failure with an 85% mortality if untreated. Early recognition and treatment may improve outcome [N Engl J Med 324(1991)450]. OBJECTIVES: (i) To determine the number and presentation of neonates with disseminated HSV admitted to an intensive ...

Pheochromocytomas produce, store and secrete catecholamines. Diagnosis is often suspected in young patients with severe hypertension. We present the case of a 47-year-old woman without a previous history of hypertension, whose initial presentation was cardiovascular shock. Despite early diagnosis of the disease, the fulminant evolution of the pheochromocytoma crisis was ...

A case of the antenatal diagnosis of a craniopharyngioma with radical surgery in the neonatal period is reported. We have reviewed the literature of such cases in an attempt to isolate specific features in this age group and to determine the appropriate management. Only six cases of the truly antenatal ...

PURPOSE OF REVIEW: This is a review of the recent advances in the diagnosis and therapy of dysfunctional voiding. We aim to point out the fact that there are many modalities which are effective in the treatment of dysfunctional voiding but that the standard therapy is still not agreed upon. ...

Herein I describe new felid material from the early Miocene, Ulaan Tologoi locality of Mongolia. A dentary fragment and a metapodial are the first large felid fossils to be recovered from the early Miocene of Asia. Both specimens are referred to the genus Pseudaelurus. Comparisons of these Asian specimens to ...

The incidence of pyomyositis is on the increase worldwide among children and adults. When it involves muscles about the hip it needs to be differentiated from septic arthritis and transient synovitis among other diseases. Lack of awareness of the condition frequently leads to delay in correct diagnosis. We present one ...

Laparoscopic surgery is now a common procedure for the cure of appendicitis. Unexpected other laparoscopic findings can be a diagnostic challenge. The authors present a case in which, in addition to typical appendicitis, multiple whitish nodules were found diffusely on the peritoneal surfaces suggesting a differential diagnosis including miliary tuberculosis ...

OBJECTIVE: To determine the accuracy of initial diagnosis of cerebral malaria in adolescents and adults presenting at our tertiary centre and identify the clinical and laboratory parameters helpful in distinguishing cerebral malaria from other differential diagnosis. METHODS: A retrospective review of 112 adolescents and adults initially diagnosed as having cerebral ...

Internal herniation through a defect of the uterine broad ligament is rarely encountered. We report a case of a 52-year-old woman in whom a closed bowel loop with approximation of its ends to the uterus was the definitive computed tomographic finding. This type of internal herniation should be considered in ...

What may initially appear to be a classic presentation of a common condition--in this case sciatic radiculopathy from presumed disc herniation--can sometimes reflect a more ominous process. This article discusses the presentation, diagnosis, and management of a patient initially referred for neurosurgical consultation for S1 radiculopathy suspected to be due ...

During entomological surveys conducted by the author in the whole of Balochistan Province during 1996-2001, <I>Sergentomyia (Sergentomyia) punjabiensis</I>, Sinton was collected (<I>N=</I>22) from 5 localities. These localities appear to be the new records of this species in the literature to date. Taxonomic characters not described by earlier workers are described ...

During entomological surveys conducted in the whole of Balochistan Province <I>Sergentomyia (Sergentomyia)</I> <I>theodori pashtunica</I> Artemiev (1974) was collected (N=158) from 13 localities. These localities appear to be the new record of this species in the literature to date. Taxonomic morphology previously not described by earlier workers are also described, measured ...

Wegener's Granulomatosis (WG) is characterized by the clinical triad of upper and lower respiratory disease, and renal insufficiency. Because WG masquerades as a syndrome, its diagnosis is often delayed. Astute clinicians should include WG in their differential diagnosis when a patient presents with these classic findings. The diagnosis is a ...

Juvenile Sandhoff disease (McKusick 268800) is a rare lysosomal storage disorder with only 12 cases recorded in the literature. This condition is also referred to as the subacute form of hexosaminidase deficiency. We describe 9 new cases of Pakistani origin and compare these with the other published cases. Ataxia and ...

Ectopic ureters may be difficult to diagnose unless there is high index of suspicion. Examination for continuous dribbling may be difficult in infants who are still using diapers. We are reporting a case of ectopic ureter which was erroneously diagnosed as ureterocele on a cystourethrogram. Further investigations for accurate diagnosis ...

A 37-year-old alcoholic male patient presented with recurrent intractable upper gastrointestinal bleeding. The diagnosis was established by GI endoscopy and ERCP, as bleeding from the periampullary region. The clinical features, management and literature review are discussed here as such a presentation is extremely rare.

A case of posterior oesophageal web in an 18-year-old girl is being presented, in view of its rarity. The diagnosis could be established only after thoracotomy and exploration of the oesophagus. The clinical profile along with possible theories of aetiology are discussed and a brief review of literature is made.

Hashimoto's encephalopathy and Creutzfeldt-Jakob disease (CJD) often have similar clinical features and may be confused, especially at onset. A 61-year-old woman developed rapidly progressive ataxia, myoclonus and dementia, with abnormalities seen on electroencephalography (EEG). Serum analysis disclosed high titers of antithyroid autoantibodies. Both clinical course and autopsy led to a ...

Intersex disorders are rare and complex; yet, in each case of genital ambiguity, accurate and expeditious management is required of the clinician. This article reviews the embryology of sexual differentiation, from which some 'rules' of diagnosis are derived. A simplified approach to the interpretation of clinical signs in ambiguous genitalia ...

Stump appendicitis is a rare clinical situation when there is incomplete appendectomy. A wide spectrum of diseases in the differential diagnosis of right lower quadrant pain of the abdomen and presence of appendectomy operation in a patient's history delay the diagnosis. We report such a case of perforated stump appendicitis ...

The diagnosis of patients with fever of unknown origin (FUO) is often problematic because the range of possible differential diagnoses is broad. We report on a case in which a patient presented with FUO and was subsequently found to have both a collagen vascular disease and an intercurrent infection. Treatment ...

AIMS: To test the clinical accuracy of a web based differential diagnostic tool (ISABEL) for a set of case histories collected during a two stage evaluation. METHODS: Setting: acute paediatric units in two teaching and two district general hospitals in the southeast of England. Materials: sets of summary clinical features ...

The Authors present a case of an insidious onset of Crohn Disease (CD) in an elderly patient. Diagnosis complicated by extraintestinal manifestation properly of old age could be delayed and often made after surgery on the histological specimen as in our case. CD is uncommon as primary manifestation in old ...

A new form of atypical pneumonia was reported in the East Asian region beginning from early 2003. This was later termed by the World Health Organisation as Severe Acute Respiratory Syndrome (SARS). The diagnosis of SARS relies on a combination of clinical features and chest radiographic findings. A preliminary review ...

We present the case of a 51-year-old former U.S. Air Force officer who developed marked behavioral and personality changes over a 9-year period, ultimately leading to his discharge from the Air Force at a rank below that which he achieved during service. Clinical diagnostic features, neuropsychological testing and neuroimaging together ...

PURPOSE: We assessed the reproducibility and prognostic variability of grade and lamina propria invasion in stages Ta, T1 urothelial carcinoma of the bladder. MATERIALS AND METHODS: A total of 130 consecutive stages Ta, T1 urothelial carcinomas routinely diagnosed by 15 pathologists (original diagnosis) were reviewed by 3 independent experienced pathologists ...

Metastases of osteosarcoma in the mouth are rare, and only few cases have been described. We present a case of telangiectatic osteosarcoma of the femur in a 15-year-old girl, who developed metastases in the humerus, lungs and retromolar area 4 years after initial diagnosis and treatment. The girl died 2 ...

A four year old white female with a clinical presentation of macroglossia is described. Speech disturbances and occasional episodes of traumatic injury to the tongue with severe bleeding brought the patient to seek dental care. Lymphangioma was diagnosed after incisional biopsy. The differential diagnosis of tongue enlargement in children is ...

A case of an 18 year old woman is reported who presented with a pyrexia of unknown origin having returned from a trip to India. She initially had constitutional symptoms only, which rapidly progressed to a multisystem disorder. The difficulty in making the diagnosis of polyarteritis nodosa, especially with the ...

Jugular phlebectasia (JP) is an entity that has been increasingly recognized in recent years. It is a rare entity. This paper reports three new cases presenting with swelling on the right side of the neck, and reviews all cases of internal JP published in English literature up to 2001. This ...

We report a case of a patient with right pleural effusion who, during video-assisted thoracoscopy for biopsy and diagnosis, developed a sudden rise in end-tidal carbon dioxide (EtCO2) after a small tear of the lung tissue. The purpose of this case report is to highlight this rare complication and to ...

Toxoplasmosis is the most common infectious cause of posterior uveitis. Although the classic presentation including moderate to severe vitreous inflammation associated with a focal retinochoroiditis and an adjacent or nearby retinochoroidal scar offers little diagnostic difficulty, numerous atypical presentations have been recognized. Here, both serologic and PCR-based analyses can be ...

Immunohistochemistry (IHC) is an important adjunctive test in diagnostic surgical pathology. We studied the clinical significance and outcomes in performing IHC on cases with a previous diagnosis of cancer who are coming to the Fox Chase Cancer Center (FCCC), a National Cancer Institute designated National Comprehensive Cancer Center (NCCC), for ...

This report describes a case of Rhodococcus equi infection causing pyogranulomatous skin disease and cellulitis in a two-year-old female domestic shorthaired cat. The case differed from previously reported cases in cats in its clinical presentation and in the locations of the lesions, which were similar to those seen in horses. ...

The relevance of many mycotoxins to small animal health is difficult to assess, because available information has not been collated and reviewed. Only aflatoxins, penitrem A, and roquefortine have been confirmed in natural mycotoxicoses in pets. Effects of tricothecene mycotoxins, patulin, and penicillic acid on dogs and cats have only ...

Age at diagnosis and the symptom history of children with primary ciliary dyskinesia (PCD) are described by reviewing the case notes in the paediatric PCD clinic. Mean age at diagnosis was 4.4 y despite a history of neonatal respiratory distress in 37/55 cases, situs inversus in 38/55 cases and early ...

Atypical mycobacterial infections of the middle ear are extremely rare. To our knowledge, only eight cases have been reported in the literature, five of which involve Mycobacterium avium intracellulare. We present a case of culture-proven, M. avium intracellulare otomastoiditis in an 8-year-old boy with common variable immunodeficiency syndrome. The patient ...

Headache is one of the most common complaints confronting neurologists. This article illustrates through case studies both some of the rare and some of the commonly challenging aspects of diagnosis and management of headache. Each case is followed by a brief overview of the topic. The reader should have an ...

We describe a case series of five patients with unusual presentations of acute dystonia seen over a 2-week period. Haloperidol, prescribed and allegedly purchased 'on the street', was thought to be a possible cause in each case. Bizarre clinical presentations and delayed onset of symptoms may make diagnosis difficult. A ...

This feasibility study examined the diagnostic accuracy of Internet-based dynamic-robotic telepathology using neuropathology cases. Randomly, 83 cases were selected from the routine diagnostic workload of the Neurosurgical Pathology Laboratory in Poznan, Poland. Telepathology diagnoses were compared with conventional paraffin section diagnosis. The neuropathologists, operating a robotically controlled motorized microscope over ...

Gliomatosis cerebri (GC) is an infiltrative neoplastic process that is diffusely distributed through neural structures, whose anatomical configuration remains intact. Most of the cases with GC reported in the literature were diagnosed at autopsy (101/110, 92%). We report two cases of GC in a 42-year-old woman and a 65-year-old man. ...

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency ...

Vertigo is a relatively uncommon pediatric complaint, with correct diagnosis made even more challenging by the patient's inherent difficulty in describing his or her symptoms. Confusion may exist among vertigo, dizziness, dysequilibrium, ataxia, pre-syncope or syncope, and seizure activity by both the pediatric patient and his or her family. A ...