Localized pruritus: a presenting symptom of a spinal cord tumor in a child with features of neurofibromatosis.

Central nervous system (CNS) and spinal cord tumors are not uncommon in patients with neurofibromatosis (NF); however, it is impossible to select patients with NF who are at a particularly high risk. Localized pruritus may be a clue to the presence of a spinal cord or CNS tumor. This is the first report of an infant with features of NF, whose presenting symptom of a spinal cord tumor was localized symmetrical dermatomal itch. Moreover, we review the literature of localized pruritus in CNS and spinal cord tumors and peripheral nervous system conditions.

Intracranial plasma cell granuloma.

Plasma cell granulomas (PCGs) are benign, inflammatory masses of unknown etiology composed of polyclonal mature plasma and lymphoid cells. The lung is their most common location, and occurrence within the cranial cavity is extremely rare. We report the case of an 11-year-old girl who presented with seizures and was diagnosed as having a dural-based right frontal tumor that extended toward the sagittal sinus and the falx. The lesion was totally excised, together with the abnormal dura. A limited cortical excision was also performed using electrocorticographic guidance. Histopathologic diagnosis of intracranial plasma cell granuloma was reached after extensive immunohistochemical tests and electron microscopy. This is the third case of PCG with description of changes in the neighboring cerebral tissue. Although PCGs are well-circumscribed lesions, lymphoplasmocytic inflammation, neuronal loss, and reactive gliosis occur within the adjacent cortex. Disturbed cortical lamination, as we have observed, appears to be a histological finding that has not been described previously.

Clinical trial of fusidic acid for lepromatous leprosy.

Fusidic acid was assessed for antileprosy activity in nine lepromatous leprosy patients. Patients received fusidic acid at either 500 mg/day for 12 weeks or 750 mg/day for 4 weeks followed by 500 mg/day for 8 weeks. All patients showed time-dependent clinical improvement and decreases in bacillary morphological index, radiorespirometric activity and PCR signal, and in serum phenolic glycolipid I. Fusidic acid appears to be a weakly bactericidal antileprosy agent which may have a role in the multidrug treatment of leprosy pending an evaluation of lepra-reaction-suppressive activity.

Clinical trial of clarithromycin for lepromatous leprosy.

Clarithromycin was administered to nine previously untreated lepromatous leprosy patients. Patients received two 1,500-mg doses on the first day, followed by 7 days of no treatment, in order to evaluate the potential efficacy of intermittent therapy. Patients then received 1,000 mg daily for 2 weeks followed by 500 mg daily for 9 weeks. The efficacy of therapy was monitored clinically, by changes in morphological index, mouse footpad infectivity, and radiorespirometric activity of Mycobacterium leprae obtained from serial biopsies and by serum levels of phenolic glycolipid I. Clarithromycin was well tolerated, with only minor side effects noted in two patients. Most patients showed reductions in morphological index and radiorespirometry 1 week after the first two doses. Within 3 weeks of starting treatment (total of 17 g of clarithromycin), biopsy-derived M. leprae specimens from all patients had a morphological index of zero, were noninfectious for mice, and had less than 1% of the radiorespirometric activity of pretreatment specimens. Reductions in serum phenolic glycolipid I levels were observed for most patients at 3 weeks. Significant clinical improvement was evident after 4 weeks of treatment. All analyses indicate that clarithromycin is rapidly bactericidal for M. leprae in humans.

Clinical trial of sparfloxacin for lepromatous leprosy.

Nine previously untreated patients with lepromatous leprosy were treated with 200 mg of sparfloxacin daily for 12 weeks to determine whether this drug is bactericidal for Mycobacterium leprae in humans. The efficacy of therapy was monitored both clinically and by measuring changes in morphological index, mouse footpad infectivity, and the radiorespirometric activity of M. leprae organisms obtained from serial biopsy specimens and also by determining titers of phenolic glycolipid-I in serum. Most patients showed clinical improvement within 2 weeks of treatment; this was accompanied by significant reductions in the morphological index, mouse footpad infectivity, and bacillary radiorespirometric activity. After 4 weeks of treatment, all patients had a morphological index of zero and specimens from most patients were noninfectious for mice, while the median decrease in radiorespirometric activity was > 99%. Overall results by the rapid radiorespirometric assay paralleled those of the mouse footpad and morphological index assays. Sparfloxacin given at 200 mg once daily appears to be rapidly bactericidal in humans, with activity similar to that observed in a previous clinical trial with 400 mg of ofloxacin.

Birbeck granules or Birbeck junctions? Intercellular "zipperlike" lattice junctions in eosinophilic granuloma of bone.

Three cases of eosinophilic granuloma of bone exhibited intercellular attachments between histiocytes, with a pentalaminar structure identical to that seen in nearby intracellular Birbeck granules (BG). It is proposed that the term "lattice junction" be coined to describe this organelle, which seems to be expressed only by cells of monocytic-histiocytic lineage. While this finding confirms the ability of the surface membrane to form such structures, it does not necessarily preclude other intracytoplasmic sites of origin for some BG. The previously suggested role of BG in membrane storage and regulation is reiterated as a supportable model for their function.

Anomalous coronary arteries arising from the aorta associated with sudden death in infancy and early childhood. An autopsy series.

Anomalous coronary arteries arising from the aorta are a recognized cause of myocardial ischemia and sudden death. Death has been precipitated by exercise in most cases. We present the results of an autopsy study in which sudden and unexpected deaths associated with coronary anomalies were found in three children (less than 2 years of age). In two cases, death was not associated with exercise. In two case, the myocardium was morphologically normal, and in the third case, there was an extensive recent anterior myocardial infarct with a background of established fibrosis. Coronary artery anomalies may be easily overlooked in this age group because of small vessel size and difficulty in dissection; this is particularly so when there are normally placed ostia. One consequence of this is potential for confusion with sudden infant death syndrome.

Four unusual cases of sudden and unexpected cardiovascular death in infancy and childhood.

Four unusual cases of sudden and unexpected cardiovascular death in infancy and early childhood that were found during a ten-year autopsy review at our institutions are presented. In Case 1, an asymptomatic 2-year-old male, sudden death resulted from an acute myocardial infarct due to occlusion of coronary arteries that had been previously damaged by unsuspected arteritis. Case 2, a previously well 7-month-old male, died from an acute myocardial infarct due to an unsuspected anomalous origin of the coronary arteries from a single, stenotic coronary ostium. Case 3, a previously well 21-month-old black male, died from a splenic sequestration crisis due to undiagnosed sickle cell disease. Case 4, a 2-month-old female with suspected Marfan syndrome, died from a ruptured dissecting aneurysm of a patent ductus arteriosus. Accuracy of diagnosis was of particular importance in the latter two cases because of the possible genetic implications.

Rapid ultrasonic bath processing for electron microscopy.

A new rapid method for the processing of biopsy specimens for electron microscopy is described. The method uses standard reagents and media and employs ultrasonic cleaning bath agitation to accelerate fluid exchange. The procedure takes approximately 2.5 h from specimen excision to polymerized block and gives excellent results.

Congenital teratomas of the neck and nasopharynx: a clinical and pathological study of 18 cases.

Congenital teratomas of the neck and nasopharynx are unusual tumours that seldom metastasize. Due to their rarity, reviews often have relied upon compilations of isolated case reports. We report our experience of the early outcome of 18 cases (14 cervical, four nasopharyngeal) to demonstrate the high morbidity and mortality that these benign but critically placed lesions have because of local mass effects. Six patients (33%) either were stillborn or died of disease within 2 days of birth; of the survivors, four (22%) had significant respiratory obstruction requiring surgery. Tumour location and size rather than histologic grading were the most significant features affecting the immediate clinical course. All but one of the patients who underwent early surgical resection had a favourable outcome.

Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.

Infantile neuroaxonal dystrophy (IND) is a well-established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre- or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits. Both boys died in infancy with pathological changes compatible with IND. The somewhat different clinical course in these brothers leaves open the possibility that this is a variant of neuroaxonal dystrophy due to an X-linked recessive mutation.