Disappearing enhancing brain lesion in a child with neurofibromatosis type I

Neurofibromatosis type 1 (NF1) in children can produce a variety of parenchymal signal abnormalities on cranial MR. Areas of abnormal signal in these patients may represent regions of disordered myelination, "hamartomatous" change or frank neoplasia. The presence of contrast enhancement in intracranial lesions in patients with NF1 is usually strongly suggestive of tumor. We report the case of a child with NF1 and a focal enhancing brain parenchymal lesion which spontaneously resolved without specific therapy.     

Actinomyces meyeri cutaneous actinomycosis with pulmonary localization

Infections due to Actinomycosis species are located in the cervico-facial region in 50 to 65 percent of the cases. Extra-cervical cutaneous lesions are exceptional. The most frequently encountered germ is Actinomyces israeli, observed in 85 percent of the cases. We report the case of an Actinomyces meyeri infection which presented as a leg abscess and a pulmonary lesion. There was no cervico-facial localization. There was however a chronic parodontitis. A second germ, Capnocytophaga sp. was isolated from the abscess. This case is of particular interest because of the extracervical localization and the rare species isolated (17 other cases of Actinomyces meyeri infection have been reported). The mechanism of the infection can be better understood in light of pulmonary lesions in the lower right lobe due to inhalation and the coexistence of a buccodental germ in the culture of the leg abscess: buccodental origin of the germ, pulmonary lesion secondary to inhalation, septicaemic dissemination with cutaneous metastases.     

Entamoeba histolytica: computer-assisted modeling of phosphofructokinase for the prediction of broad-spectrum antiparasitic agents

Approximately 34 cases of intracranial tuberculomas with paradoxical response to antituberculous chemotherapy have been documented worldwide. In most of the previously reported cases of this entity an associated tuberculous meningitis has been reported. The majority of these patients were children or young adults, who had inoperably located intracranial tuberculomas in high risk regions developing a few weeks or months after the start of appropriate chemotherapy. 53% of them recovered completely, 37% improved with mild neurological deficits and 10% died. It is interesting that these intracranial tuberculomas developed or enlarged at a stage when systemic tuberculosis was being treated successfully. We report our recent experience with these potentially curable tumours of the central nervous system. The literature is reviewed and diagnostic and therapeutic considerations are discussed. The possible immunological mechanisms of this phenomenon are analysed. In conclusion, patients, who are suspected to be suffering from CNS-tuberculosis should receive a prolonged (12-30 months) course of effective antituberculous therapy. Evidence of new intracranial tuberculomas or the expansion of older existing lesions require no change in the antituberculous drug programme. In such cases systemic dexamethasone as adjuvant therapy for 4 to 8 weeks is worthwhile and effective. Surgical intervention may be necessary in situations with acute complications of CNS tuberculosis such as shunting procedures for the treatment of hydrocephalus. When the diagnosis is not firm and there is no response to therapy within 8 weeks, a stereotactic biopsy of a suspected tuberculoma should be performed. If the largest lesion is not located in high risk deep regions of the brain, it should be total removed surgically. With this combined management, a satisfactory outcome can be obtained in the majority of cases.     

Febrile eruptions in systemic diseases in children

During systemic diseases, various cutaneous lesions can arise. When the diagnosis of the disease is known, it is quite easy to attribute the cutaneous symptoms to this disease. But, when confronted to a child with a rash and fever infectious disease has to be excluded first. If the antiinfectious treatment is not effective, a systemic disease can be suspected. Acute systemic disease may present as malaise, fever and cutaneous lesions, without specific biological abnormalities. The cutaneous symptoms can then be precious in reaching the correct diagnosis.     

Combined utility of functional MRI, cortical mapping, and frameless stereotaxy in the resection of lesions in eloquent areas of brain in children

We studied 16 children with lesions in the eloquent brain to determine if the amalgamation of information from functional magnetic resonance imaging (fMRI), frameless stereotaxy, and direct cortical mapping and recording could facilitate the excision of these lesions while minimizing potential neurological deficits. The mean age of the children was 10 years. Fourteen children presented with seizures. All lesions were located in or near eloquent cerebral cortex. fMRI was successful in all patients in delineating the relationship between the lesion and regions of task-activated cortex. The ISG wand was utilized in all cases for scalp and bone flap placement, and for intraoperative localization of the lesion. Direct cortical stimulation or recording of phase reversals with somatosensory evoked potentials helped delineate the central sulcus and language cortex in patients with lesions near the motor or language cortex. Intraoperative electrocorticography (ECoG) was utilized in all patients who presented with seizures to guide the extent of resection of the epileptiform cortex. Ten children had benign cerebral neoplasms, nine of which were totally resected. The other diagnoses included vascular malformations, Sturge-Weber, tuberous sclerosis, Rasmussen's encephalitis, and primitive neuroectodermal tumor. Only 1 patient with a left Rolandic AVM developed a new neurological deficit postoperatively. Thirteen of fourteen patients who presented with seizure disorders were rendered either seizure free or improved in terms of seizure control postoperatively. Follow-up has ranged from 12 to 18 months, with a mean follow-up of 15 months. We conclude that the techniques of fMRI, frameless stereotaxy, direct cortical stimulation and recording can be utilized in sequence to accurately localize intracerebral lesions in eloquent brain, and to reduce the morbidity of resecting these lesions in children.     

Vitamin D prophylaxis in children with a single dose of 150000 IU of vitamin D

INTRODUCTION: Blue nevi are small acquired melanocytic tumors. Two clinical forms are described, a fibrous form and a cellular form. Giant nevi are exceptional. CASE REPORT: We describe a patient with a giant blue nevus of the scalp. In addition to this congenital, noninvasive tumor the patient presented numerous cutaneous melanocytic nevi. The main lesion was removed by surgical exeresis followed later with reconstruction plasty. The histological examination of the surgical specimen showed an infiltrating blue cell nevi. After a 4-year follow-up, there has been no recurrence and no metastasis. DISCUSSION: There have been 11 cases of giant blue nevi reported in the literature. All were congenital lesions with polymorphous clinical and histological aspects. Fibrous forms are noninvasive and cellular forms have a potential for local invasion, whether shortly after birth or later with invasion of muscles, bone and meninges without intracerebral extension. Congenital blue nevi require early surgical exeresis.     

The risk intraocular juvenile xanthogranuloma: survey of current practices and assessment of risk

BACKGROUND: Juvenile xanthogranuloma (JXG) is an uncommon, usually uncomplicated disease of childhood. Ocular involvement, however, can result in glaucoma and blindness if left untreated. The incidence of ocular complications and how best to screen for their occurrence is unknown. OBJECTIVE: We attempted to ascertain management and referral practices among ophthalmologists and dermatologists and to characterize the risk for ocular complications in children with JXG. METHODS: A total of 431 dermatologists and 438 ophthalmologists were surveyed. In addition, the literature was reviewed. RESULTS: The response rate were 28% (dermatologists) and 44% (ophthalmologists). Most believed screening was important, but referral and surveillance practices varied widely. The survey incidence of ocular complications in patients with cutaneous JXG was approximately 0.3% (7 of 2371). The literature incidence was 0.4% (1 of 260). Children at maximum risk were 2 years of age or younger, had multiple skin lesions, and had newly diagnosed JXG. CONCLUSION: Ophthalmologic screening of patients with JXG should be particularly targeted to patients with risk factors of multiple skin lesions, new diagnosis, and age of 2 years or younger.     

Detecting pathogens of fetal defects in paraffin embedded tissues by polymerase chain reaction

Cerebral cavernous angiomas (CCA) are rare, reportedly accounting for only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Forms are sporadic or familial, and the mode of inheritance is probably autosomal dominant. We report an unusual case of an infant born at 37 weeks of gestational age following a normal pregnancy. Her birth-weight was 1560 g. The family history was negative. At 10 months of age, the child presented with the sudden onset of muscular hypotonia, motility and strength deficits, and absence of osteotendinous reflexes in the right arm. The psychomotor development of the child was normal. MRI revealed the presence of a cavernous angioma in the paramedian pontine region. The child's monoparesis quickly disappeared. This case is interesting because of the age at onset and the way in which the clinical manifestations developed.     

Failed hip prostheses in hemodialysis patients. Amyloid deposition at the bone-implant interface in 4 cases

Factor VII (FVII) deficiency is a rare autosomal recessive hereditary disorder characterized by a normal partial thromboplastin time and a prolonged prothrombin time. For definitive diagnosis, the specific FVII level should be investigated. We report on a 7-month-old boy with congenital FVII deficiency suffering from convulsions and intracerebral hemorrhage. Hematologic tests revealed prolonged prothrombin time associated with a decreased FVII level of 1.7%. Computerized tomography of the brain revealed multifocal hemorrhagic lesions. To our knowledge, multifocal intracranial hemorrhages at the time of a transiently prolonged partial thromboplastin time of unknown origin in a child with congenital FVII deficiency of about 2% has not been reported so far.     

A rapidly enlarging neck mass

We presented an unusual case of cutaneous and bilateral ovarian metastases of malignant melanoma. There was no previously identifiable cutaneous or mucous lesion or teratoid element. Past history revealed that the patient had undergone removal of a blackish, elevated, irregular shaped tumor from the right arm eleven years previously. This lesion was considered to be the primary melanoma; therefore, it was thought to be very unusual as metastasis occurred in both the skin and ovaries after an eleven year disease-free interval.     

Cutaneous involvement in chronic myelomonocytic leukemia

BACKGROUND: Chronic myelomonocytic leukemia has been associated with various nonspecific cutaneous manifestations. Rarely has the leukemia been reported to directly affect the skin. METHODS: This case documents the progression of a patient who ultimately developed chronic myelomonocytic leukemia, by clinical examination, hematologic parameters, dermatopathology, and bone marrow pathology. RESULTS: The skin showed nonspecific cutaneous involvement, progressing to specific leukemic lesions parallel with increasing systemic and hematologic involvement. CONCLUSIONS: Chronic myelomonocytic leukemia can manifest with lesions of leukemia cutis. The possibility of nonspecific cutaneous involvement in the preleukemic phase exists.     

Meningioangiomatosis in a dog: magnetic resonance imaging and neuropathological studies

A case of a dog with a long-standing history of seizures is reported. Neurological examination suggested an intracranial focal lesion, while magnetic resonance imaging disclosed a right cerebral mass with ventricular involvement. Pathological analysis of the resected specimen revealed characteristics of meningioangiomatosis.     

Coupled column chromatography in chiral separation of salmeterol

The neuromuscular hamartoma (also referred to as the neuromuscular choristoma or benign triton tumor) is a rare developmental lesion composed of mature elements of both striated muscle and nerve. To date, less than 20 cases have been reported in the English language literature. The majority of these have involved large nerves, such as the sciatic or brachial plexus, but cutaneous lesions have also been reported. We report 2 cases that involve the head and neck and that are among the few described in this location. The majority of cases have been described in infants and young children. However, 1 of our cases (and at least 1 previously reported case) occurred in an adult. While surgical excision has been the most widely used form of therapy, a few cases have been complicated by and/or associated with a second lesion, such as a fibromatosis or lymphangioma.     

Hemangiopericytoma of the third ventricle. Case report

The authors present the first reported case of a hemangiopericytoma (HPC) occurring in the third ventricle. Most of these lesions are based in the meninges. There is only one other reported case of an intraventricular HPC; in that case the lesion was found in the lateral ventricle. A 40-year-old right-handed man presented with a 3-month history of headaches. Clinical evaluation, including computerized tomography and magnetic resonance imaging studies, revealed a 1-cm enhancing lesion in the third ventricle. Given the findings on the preoperative imaging studies, the lesion was not consistent with some of the more commonly occurring tumors of the third ventricle, namely colloid cysts. A transcortical approach and resection of the lesion was performed without complication. The final pathological findings were consistent with those of an HPC. Hemangiopericytomas rarely occur in the ventricles and may pose a difficult diagnostic dilemma based on their radiographic and gross appearances, as shown in this case. Because of this difficulty, histological confirmation is required to make a definitive diagnosis. These lesions have a propensity to recur and metastasize in the central nervous system and periphery, thus making the goal of treatment a complete surgical resection followed by postoperative radiation therapy in most cases.     

Two cases of esophageal carcinoma metastatic to the pineal region with a review of the literature

BACKGROUND: Metastasis to the pineal region is rare, and there are no previously reported cases of esophageal carcinoma metastatic to the pineal region. CASE DESCRIPTION: We now present two cases of solitary esophageal carcinoma metastatic to the pineal region. In each case there was no evidence of disease progression at the primary site at the time of presentation, and neurologic symptoms were the first indication of recurrent disease. Both patients underwent infratentorial/supracerebellar resection of the pineal lesions and were subsequently referred for radiation therapy. CONCLUSIONS: These two cases emphasize that metastatic disease must be a likely differential consideration in a patient with a CNS lesion and a history of previous malignancy, even if the lesion is in an unusual location.     

Benfluorex, a hypotriglyceridemic drug, reduces lipid peroxidation and alleviates adverse metabolic complications of copper deficiency

To provide histological diagnoses of brain diseases, CT-guided stereotactic brain biopsy (CT-SBB) has been widely used because of its less invasive technique compared with open brain biopsy (OBB). However, CT-SBB is not always diagnostic. We report a case of multiple intracranial tuberculoma whose diagnosis was not made by CT-SBB but by OBB. The patient is a 46-year-old man with insulin-dependent diabetes mellitus who had been receiving immunosuppressive agents (azathioprine, cyclosporin, and prednisolone) after renal transplantation for diabetic renal failure for 9 years. He gradually developed febrile, headache and unsteady gait. Brain MRI demonstrated multiple intracranial lesions involving left fronto-temporal and right parietal lobes, left cerebellar hemisphere, and the fourth ventricle. Although the MRI findings were consistent with those of previously reported cases of intracranial tuberculoma, other conditions, such as malignant lymphoma and toxoplasmosis, were not ruled out. Therefore, CT-SBB targeting the left temporal lobe lesion was done for definitive diagnosis, but it revealed only mild perivascular infiltration of mononuclear cells and hemorrhage. He was transferred to our clinic for further evaluation. On examination, mild truncal and limb ataxia on the left were noted in addition to the neurological findings corresponding to diabetic retinopathy and neuropathy. Despite vigorous laboratory examinations, including repeated bacterial cultures and PCR of cerebrospinal fluid, no evidence of tuberculous infection was obtained. A tentative diagnosis of multiple intracranial tuberculoma was made, and anti-tuberculous drugs (isoniazid 400 mg, ethambutol 750 mg, and pyrazinamide 1.5 g) were administered. Since his symptoms deteriorated because of ventricular dilatation resulting from the enlarged lesion in the fourth ventricle after a temporary clinical improvement, VP-shunting and OBB from the left temporal lobe lesion were done. The excised lesion was firmly encapsulated and the histological examination revealed typical pathology of tuberculoma. Ziehl-Neelsen staining and PCR for Mycobacterium tuberculosis of the biopsied specimen were also positive. Further administration of increased doses of anti-tuberculous drugs (isoniazid 600 mg, ethambutol 500 mg, pyrazinamide 2.0 g and intramuscular injection of streptomycin 0.3 g twice a week) eventually ameliorated the symptoms and shrank the lesions. In case of intracranial tuberculoma, the needle of CT-SBB may not penetrate the firm capsule of tuberculoma and only the surrounding brain tissue may be obtained as in the present case. Therefore, it is recommended to consider OBB from the beginning for definitive diagnosis of intracranial tuberculoma. Paradoxical worsening of the clinical and laboratory findings of tuberculosis in spite of appropriate anti-tuberculous therapy as seen in the present case has been described in both pulmonary and extra-pulmonary tuberculosis. The phenomenon, called transient worsening, could happen and we have to keep it in mind during the treatment of intracerebral tuberculoma.     

Systemic vasculitis in a patient with small-cell neuroendocrine bronchial cancer

A 75-yr-old male hospitalized for vascular purpura with joint pain had a medical history of polymyalgia rheumatica. A generalized oedematous syndrome occurred and the patient also presented with haemoptysis and complained of transient paraesthesia of the hands and feet. Renal biopsy showed lesions of focal segmental proliferative glomerulonephritis associated with a few cellular crescents. Lung biopsy showed small-cell neuroendocrine carcinoma. After the first course of chemotherapy signs of vasculitis disappeared. Small-cell neuroendocrine carcinomas, which represent 25% of all lung cancers, have numerous paraneoplastic (especially neurological) extrapulmonary manifestations. Disseminated vasculitis has never been described with this type of cancer, whereas nonsmall-cell carcinomas are associated essentially with cutaneous vasculitis or purpura rheumatica. In the case reported here, anticancer chemotherapy allowed vasculitic manifestations to be treated.     

Primary basal cell carcinoma of the limbal conjunctiva

BACKGROUND: The authors describe a 66-year-old man with primary basal cell carcinoma of the conjunctiva. He presented with a fleshy nodular conjunctival lesion of 4 months' duration, located at the nasal limbus of the left eye. No associated cutaneous lesions were present. RESULTS: The lesion was completely excised, and results of histopathologic examination showed a primary basal cell carcinoma of the conjunctiva. CONCLUSION: This report provides clinicopathologic evidence that primary basal cell carcinoma can rarely occur in the conjunctiva. The authors summarize two well-documented previously reported cases of this unusual lesion.     

Neurogenic pulmonary edema. Pathogenesis, clinical picture and therapy

Neurogenic pulmonary edema (NPE) is a rare but always life-threatening complication in patients with central nervous system lesions. NPE is evident if patients shortly after cerebral lesions suddenly develop pulmonary edema and other causes of the symptoms, such as aspiration of gastric content, congestive heart failure and direct toxic exposure, are ruled out. METHODS: The current body of literature, partially obtained by computer-guided search (Winspirs) regarding epidemiology, pathophysiology and therapy of NPE was reviewed. Additionally, the case of a patient who developed a sudden pulmonary edema after an episode of tonic-clonic seizures is analyzed. We first provide information about history, definition, incidence and mortality of NPE. Second, a case report of a postictal NPE is presented to illustrate the clinical picture of NPE, and the applied therapeutic strategies are discussed. Third, recent pathophysiologic concepts about symptoms and possible therapeutic principles are reviewed. Fourth, a rational therapeutic plan for the prehospital emergency therapy of NPE is outlined. RESULTS: The different etiologies all have one characteristic feature: an acute emergency which causes increased intracerebral pressure (ICP). NPE is known in patients after cerebral trauma, intracranial hemorrhage, stroke, intracranial tumor or seizures. The incidence is estimated at around 1% after cerebral trauma, at 71% after cerebral hemorrhage and at 2% after seizures. Mortality is appraised to lie between 60 and 100%, independent of etiology. There is a definite pathophysiologic sequence leading to NPE: a central nervous system lesion causes a sudden increase in ICP which triggers an upregulation of sympathetic signal transduction to assure brain perfusion. Increased tonus of venous and arterial vessels and of myocardial function are the immediate consequences. However, if systemic vascular resistance (SVR) increases excessively, left ventricular failure and finally pulmonary edema (NPE) may result. Additionally, the protein-rich edema fluid points to an increased endothelial permeability within the pulmonary circuit. This is thought to be caused by the acute pressure increase and by neurohumoral mechanisms, possibly similar to those described for the systemic inflammatory response syndrome (SIRS). The most important central nervous system structures involved in NPE are the medulla oblongata and the hypothalamus. CONCLUSION: NPE is always a life-threatening symptom after increased ICP, where immediate therapeutic interventions are imperative. A rational therapeutic approach needs to be focused on decreasing ICP as primary goal. Additionally, attempts should be made to optimize body oxygenation, decrease pre- and afterload and increase myocardial contractility. Postictal patients suspicious for incipient ventilation problems must be admitted to hospital for further evaluation.