Adrenocortical carcinoma with cerebral metastasis in a child: case report and review of the literature.

OBJECTIVE AND IMPORTANCE: Adrenocortical carcinoma (ACC) is rare in the pediatric population, and brain metastasis seldom occurs. CLINICAL PRESENTATION: The authors report a case of metastatic ACC to the brain in a 9-year-old patient who had an adrenal cortex neoplasm removed at 4 years of age, and was free of symptoms for 5 years. Two weeks before admission she complained of blurred vision in both eyes. INTERVENTION: Examination revealed bilateral papilledema, and a Magnetic Resonance Imaging (MRI) of the brain revealed a mass in the left lateral ventricle with extensive vasogenic edema and hydrocephalus. The tumor was removed, and histopathologic examination demonstrated metastatic ACC. CONCLUSION: Although ACC is a rare neoplasm it must be considered in the differential diagnosis of cerebral lesions in patients with a history of this tumor. Periodic long-term brain imaging is suggested as part of the follow up in patients with adrenocortical neoplasms.

Schwannosis: role of gliosis and proteoglycan in human spinal cord injury.

Schwannosis (aberrant proliferation of Schwann cells and nerve fibers) has been reported following spinal cord injury (SCI). In this study, we examined the incidence of schwannosis following human SCI, and investigated its relationship to gliosis. We found evidence of schwannosis in 32 out of 65 cases (48%) of human SCI that survived 24 h to 24 years after injury; this incidence rose to 82% in those patients who survived for more than 4 months. Schwannosis was not observed in cases that survived less than 4 months after injury. In affected cases, it was generally noted in areas that had low immunoreactivity for glial fibrillary acidic protein (GFAP), suggesting that reduced gliosis might have contributed to the aberrant proliferation of Schwann cells following SCI. Since chondroitin sulfate proteoglycan (CSPG) has been proposed to play a role in Schwann cell/glial interaction, we performed immunohistochemical staining for CSPG to investigate its potential relationship with schwannosis. CSPG in the injured cord was generally associated with the blood vessel walls, but was also sometimes noted in reactive astrocytes. In SCI with schwannosis, CSPG staining was more prominent and confined largely to the extracellular matrix and basal lamina of proliferating Schwann cells. Our study suggests that Schwann cells, which may have been displaced from spinal roots and introduced into the injured cord through a break in the pial surface, are capable of proliferating and producing CSPG, particularly in the setting of reduced gliosis. Since CSPG has been associated with inhibition of neurite outgrowth, its increased production by aberrant Schwann cells may impair spinal cord regeneration after injury.

Depressed ventilatory response to hypoxia in hypothermic newborn piglets: role of glutamate.

To evaluate whether changes in extracellular glutamate (Glu) levels in the central nervous system could explain the depressed hypoxic ventilatory response in hypothermic neonates, 12 anesthetized, paralyzed, and mechanically ventilated piglets <7 days old were studied. The Glu levels in the nucleus tractus solitarius obtained by microdialysis, minute phrenic output (MPO), O2 consumption, arterial blood pressure, heart rate, and arterial blood gases were measured in room air and during 15 min of isocapnic hypoxia (inspired O2 fraction = 0.10) at brain temperatures of 39.0 +/- 0.5 degrees C [normothermia (NT)] and 35.0 +/- 0.5 degrees C [hypothermia (HT)]. During NT, MPO increased significantly during hypoxia and remained above baseline. However, during HT, there was a marked decrease in MPO during hypoxia (NT vs. HT, P < 0.03). Glu levels increased significantly in hypoxia during NT; however, this increase was eliminated during HT (P < 0.02). A significant linear correlation was observed between the changes in MPO and Glu levels during hypoxia (r = 0.61, P < 0.0001). Changes in pH, arterial PO2, O2 consumption, arterial blood pressure, and heart rate during hypoxia were not different between the NT and HT groups. These results suggest that the depressed ventilatory response to hypoxia observed during HT is centrally mediated and in part related to a decrease in Glu concentration in the nucleus tractus solitarius.

Arteriovenous malformation associated with pleomorphic xanthoastrocytoma.

A case of a left temporo-occipital arteriovenous malformation associated with a pleomorphic xanthoastrocytoma is described. The patient had the vascular lesion with a stable right hemiparesis for many years prior to his recent clinical deterioration. Correlation is made with nine previously reported cases of angiogliomas. With the close proximity and temporal correlation of the two components of this lesion, as well as pathological evidence, the authors propose that angioglioma may be the product of reactive glial proliferation and transformation secondary to a pre-existing vascular malformation and hemorrhage.

MR characteristics of histopathologic subtypes of spinal ependymoma.

PURPOSE: To examine MR characteristics and enhancement patterns of spinal ependymomas and compare these data with histopathologic subtypes. METHODS: The MR images from 26 cases of pathologically proved spinal ependymomas were evaluated with respect to seven criteria: signal characteristics, enhancement pattern, length of involvement, cysts or syrinxes, hemorrhage, bony changes, and type of cord expansion. Signal characteristics were then correlated with histologic subtype. RESULTS: In the category of enhancement pattern, our results differed markedly from published data, with only 38% of cases demonstrating classic homogeneous enhancement. The remainder of our cases (62%) demonstrated other enhancement patterns, including heterogeneous (31%), rim (19%), minimal (6%), and no enhancement (6%). Pathologic comparison revealed that one histologic subtype, the myxopapillary ependymoma, demonstrated unique imaging characteristics on T1-weighted images. A highly statistically significant percentage of this variant was hyperintense on T1, whereas most nonmyxopapillary ependymomas were hypointense. CONCLUSION: The radiologist should be aware of alternative patterns of enhancement of spinal ependymomas and not be dissuaded from the diagnosis in appropriate clinical settings. In addition, one histologic subtype, myxopapillary, often exhibits signal characteristics different from nonmyxopapillary types, appearing hyperintense on T1 probably because of their intracellular and perivascular accumulation of mucin.

Inhibition of growth factor-induced DNA synthesis in astrocytes by ligands of peripheral-type benzodiazepine receptors.

The effect of diazepam and specific ligands of peripheral-type benzodiazepine receptors (PBRs) on growth factor-induced DNA synthesis in quiescent cultures of rat astrocytes has been examined. It was found that diazepam inhibited the ability of basic fibroblast growth factor (bFGF) to stimulate [3H]thymidine incorporation; the IC50 was approximately 5 microM. Ro5-4864, a specific agonist of PBRs, also blocked bFGF-induced DNA synthesis. PK11195, which in some cases functions as an antagonist of PBRs, did not prevent the effect of Ro5-4864 on bFGF-induced DNA synthesis; rather, addition of PK11195 also inhibited bFGF-induced DNA synthesis. In addition, diazepam reduced the stimulation of DNA synthesis caused by epidermal growth factor (EGF) and platelet-derived growth factor (PDGF), polypeptide growth factors coupled to receptor tyrosine kinases, as well as thrombin, an activator of G protein-coupled receptors. These data suggest that ligands of PBRs may limit astrocyte mitosis, a phenomenon that occurs following CNS injury.

Psychiatric symptoms, atypical dementia, and left visual field inattention in corticobasal ganglionic degeneration.

We longitudinally examined the neuropsychological and psychiatric characteristics of an adult male with pathologically confirmed corticobasal ganglionic degeneration (CBGD). The patient was seen on an inpatient and outpatient basis by members of the Departments of Neurology and Radiology of the University of Miami School of Medicine. Longitudinal neuropsychological testing revealed a lateralized cortical-subcortical dementia and left visual field inattention consistent with neurological and postmortem neuropathological findings of greater right hemisphere dysfunction. Symptoms of depression and obsessive-compulsive symptomatology were also documented. Our findings are consistent with prior reports indicating that CBGD is characterized by lateralized cerebral dysfunction and suggest that a detailed neuropsychological examination is a useful procedure to assist in the differential diagnosis of this movement disorder.

Bilateral hyperplastic nephromegaly, nephroblastomatosis, and renal dysplasia in a newborn: a variety of universal nephroblastomatosis.

A preterm boy was born at 34 weeks. Prenatal ultrasonography showed oligohydramnios, fetal ascites, large kidneys, and small thorax. He died 21 h after birth of respiratory insufficiency. Autopsy revealed Potter's-like facies, hypoplastic lungs, ascites, and bilateral nephromegaly (renal weight almost 10 times normal). The kidneys were finely nodular externally, solid, and cerebriform on cut section. Histologically, they showed a diffusely distorted architecture of jumbled lobules, hyperplasia of cortical-type tissue with inconspicuous proximal tubules, relative hypoplasia of medullary tissue, tubulointerstitial dysplasia, and perilobar nephrogenic rests. The renal features represent a variety of the universal or panlobar (also called pancortical or infantile) type of nephroblastomatosis. To our knowledge, this is only the third such case reported. In the brain, each lateral ventricle contained a yellow gelatinous mass. Histologically, the masses consisted of a pseudomyxoid matrix with delicate fibers and focal adipocyte clusters, all confined within choroid plexus. We consider these lesions fibrolipomatous hamartomas.

Late presentation of congenital muscular torticollis: use of MR imaging and CT scan in diagnosis.

A 17-year old boy presented with a 10-year history of progressive head tilt to the right. Bilateral posterolateral cervical pain was mild and he was fully functional. The right sternocleidomastoid (SCM) muscle was prominent without rotation of the head to the left. The SCM had a cord-like consistency on palpation. Magnetic resonance (MR) and computed tomography (CT) scan imaging of the neck musculature suggested fibrous tissue within the substance of the muscle. This was histopathologically confirmed when the right SCM was surgically explored and resected. Congenital muscular torticollis is usually seen in newborns, infants, and children but may also present in adolescence and young adulthood. It should be included in the differential diagnosis of cervical dystonia as one of the nondystonic causes of abnormal head posture. Combined use of MR and CT scan of neck muscles may be of help in the diagnosis.

Spondylocostal dysostosis with perinatal death and meningomyelocele.

A preterm black girl was born at 35 weeks of gestation to a healthy nonconsanguineous couple. She had a very short trunk with disproportionately long extremities, mild prognathism, low-set ears, thoracolumbar meningomyelocele, and imperforate anus. She died 45 min after birth. Roentgenograms revealed hemivertebrae, block vertebrae, severe thoracic lordosis, absent sacrum, posterior fusion of some ribs with greater distance among them in the anterior thorax, and relatively long extremities. Internal examination showed an intact meningomyelocele extending from the first thoracic vertebra to the lumbosacral region, containing 150 mL of clear fluid. The lungs were severely hypoplastic. Spondylocostal dysostosis encompasses a spectrum of vertebral abnormalities ranging from spina bifida occulta to large meningomyelocele and from mild to severe thoracic deformities that produce pulmonary hypoplasia and respiratory insufficiency. Our case is one of the most severe ever described.

New findings in short rib syndrome.

This white infant, born at 37 weeks of gestation, had a large cranium, bilateral anophthalmia, a midline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single umbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short-rib (polydactyly) syndrome type IV (Beemer-Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami.

Akinetic-rigid syndrome in a 13-year-old girl with HIV-related progressive multifocal leukoencephalopathy.

A 13-year-old HIV-infected girl presented with a rapidly progressive akinetic-rigid syndrome. Cranial magnetic resonance imaging revealed bilateral centrum semiovale lesions extending into the basal ganglia. Detailed histopathological study of a biopsy specimen from the involved regions resulted in a diagnosis of progressive multifocal leukoencephalopathy (PML). This case illustrates that an akinetic-rigid syndrome may be a rare presentation of PML. HIV-related PML may have unusual radiological features. Brain biopsy may be necessary to confirm PML in cases associated with atypical clinical and radiological presentations.

Effects of cyclic AMP and butyrate on cell cycle, DNA, RNA, and purine synthesis of cultured astrocytes.

Dibutyryl cyclic monophosphate (dBcAMP) has been shown to inhibit growth, and alter the morphology of astrocytes. However, the potential contribution of its hydrolytic product, butyrate, in inducing some of the changes that have been attributed to dBcAMP, is not clear. DNA, RNA, and purine synthesis were therefore studied in primary astrocyte cultures after 24 hours of exposure to varying concentrations of butyrate, dBcAMP, and agents that increase intracellular cAMP levels. Progression of cells through cell cycle was also studied by flow cytometry. Dibutyryl cAMP partially arrested cells in Go/G1 phase of cell cycle while sodium butyrate increased the percentage population of cells in G2/M phase. DNA synthesis and de novo purine synthesis were inhibited after treatment with dBcAMP, sodium butyrate, and various drugs that increase intracellular cAMP levels. RNA synthesis was increased with cAMP but was not affected by sodium butyrate. Our study shows that at millimolar concentrations, butyrate is capable of altering the cell cycle and inhibiting DNA synthesis in primary astrocyte cultures, in a manner that is similar although not identical to the effects of dBcAMP.

Creutzfeldt-Jakob disease: focal symmetrical cortical involvement demonstrated by MR imaging.

The authors present two biopsy-proved cases of Creutzfeldt-Jakob disease. MR appears to be more sensitive than CT in detecting pathologic changes; signal abnormalities, when found, are predominantly within gray matter and may involve only peripheral cortex.

Peripheral-type benzodiazepines inhibit proliferation of astrocytes in culture.

Peripheral-type benzodiazepine (BZD) receptors have been identified in brain and are predominantly localized to astrocytes. To determine their potential role in controlling astroglial proliferation, DNA synthesis, growth curves and mitotic index were investigated in primary astrocyte cultures which had been exposed to Ro5-4864 (a peripheral-type BZD ligand) and PK11195 (a peripheral-type BZD receptor antagonist). There was a dose-dependent inhibition of mitosis when two-week-old cells in culture were exposed to 50 nM, 500 nM, 1 microM and 10 microM Ro5-4864 for 24 h. Exposure of 5-, 8-, 12- and 15-day-old cultures to Ro5-4864 and PK11195 for 24 h did not affect growth rate and DNA synthesis; however, continuous exposure to 10 microM Ro5-4864 caused a persistent inhibition of cell growth and [3H]thymidine incorporation (P less than 0.05) while nanomolar concentrations did not cause any significant change. Concurrent administration of Ro5-4864 with PK11195 resulted in a partial reversal of Ro5-4864-induced inhibition in DNA synthesis and mitosis. These results indicate that peripheral-type BZDs are capable of inhibiting proliferation of astrocytes in culture.

Löffler's endocarditis.

The clinical, laboratory, and necropsy findings in a patient with massive eosinophilia and fatal cardiac failure are reported. Necropsy revealed partial obliteration of the lumen of the left ventricle with dense white thrombus, and fibrous infiltration of the myocardium. An additional finding, not hitherto described in Löffler's endocarditis, was massive enlargement of the mesenteric lymph nodes.