Combined staged endoscopic and microsurgical approach of a third ventricular choroid plexus papilloma in an infant.

BACKGROUND: Choroid plexus papillomas of the third ventricle in newborn infants are quite rare and present a significant surgical challenge. This case report illustrates the utility of endoscopy in facilitating tumor resection. PATIENT: A 6-week-old boy, born prematurely at a gestational age of 35 weeks, presented with hydrocephalus secondary to a choroid plexus papilloma in the third ventricle, extending to the aqueduct of Sylvius and into the fourth ventricle. On admission, he was found to have clinical signs of raised intracranial pressure. MRI revealed a homogeneously enhancing mass primarily in the third ventricle. The initial surgical procedure was insertion of a ventriculo-peritoneal shunt, followed by an endoscopic biopsy, which allowed the surgeons to mobilize the tumor into the right lateral ventricle. This facilitated a subsequent transcortical approach to completely remove the tumour. RESULT AND CONCLUSION: The authors present a case of choroid plexus papilloma in an uncommon location with a unique surgical approach and a successful outcome with no neurological deficits. We detail our surgical approach and the complexity of approaching a tumor located in the third ventricle of an infant.

Lhermitte-Duclos disease: literature review and novel treatment strategy.

BACKGROUND: Lhermitte-Duclos disease (LDD) is a rare pathologic entity involving the cerebellum. The fundamental nature of the entity and its pathogenesis remain unknown, and considerable debate has centered on whether it represents a neoplastic, malformative or hamartomatous lesion. The cell or cells of origin remain incompletely defined. Previous reports of cases in the English literature have dealt predominantly with the clinical and pathological aspects yet few address issues of treatment. METHODS: A case of Lhermitte-Duclos disease (LDD) in a 54-year-old female leading to local compressive symptoms and obstructive hydrocephalus is presented. A craniectomy, in addition to a C1 laminectomy followed by a decompressive duroplasty (using autologous fascia lata graft) was performed. RESULTS: The patient clinically improved and follow-up MRI 11 months post-operatively revealed improvement in hydrocephalus. CONCLUSION: The histological and immunohistochemical features of the lesion are described, emphasizing the role of an abnormal dysplastic granule cell layer. The evidence in favor of each of the major theories of pathogenesis, malformative and neoplastic is discussed. Based on these facts a form of surgical intervention involving decompressive duroplasty is proposed.

Atypical dopa responsive parkinsonism in a patient with megalencephaly, midbrain Lewy body disease, and some pathological features of Hallervorden-Spatz disease.

A 38 year old patient with megalencephaly, mental retardation, and lifelong tremor developed levodopa responsive parkinsonism in his mid-30s followed by the appearance of dyskinesiae, motor fluctuations, hallucinations, and dementia. Brain MRI showed, as well as other changes, iron deposition in the globus pallidus, substantia nigra, and the pulvinar of the thalamus. Postmortem examination disclosed depigmentation of the substantia nigra pars compacta with neuronal loss, gliosis, and Lewy body formation. Axonal dystrophic spheroids, neuronal loss, calcification, and iron deposition were found in the substantia nigra pars reticulata. Less severe changes without neuronal loss were seen in the globus pallidus. This combination of megalencephaly with neuroaxonal changes predominantly in the pars reticulata and Lewy body degeneration isolated to the substantia nigra pars compacta has not been previously reported.

Cellular and molecular pathology of medulloblastoma.

Medulloblastoma is a malignant embryonal tumor predominantly of childhood. It occurs principally in the midline cerebellar region but is prone to invade the meninges and cerebrospinal fluid spaces. It is the principal posterior fossa tumor in children and represents 20% of all brain tumors in this age group. Considerable advances have been made in characterizing the morphologic subtypes, immunophenotypes, and in vitro behavior of cell lines. However, the cell of origin and its relationship to other related primitive neuroectodermal tumors remains uncertain. Although recent advances in the application of proliferation markers and the use of apoptosis in situ labelling have been applied, a prognostically relevant marker applicable to surgical neuropathology remains to be developed. The fundamental molecular pathogenesis of tumor development remains unknown, although recent exciting advances have shown alterations in some members of the PAX family of genes as well as increased expression of neurotrophin receptors. These may prove to be of prognostic significance.

Acute presentation of a neurogenic sarcoma in a patient with neurofibromatosis type 1: a pathological and molecular explanation. Case report.

Neurofibromatosis type 1 (NF1) is the most common familial cancer-predisposing syndrome in humans, for which the gene (NF1) and its gene product (neurofibromin) have been identified. The majority of tumors occurring in patients with NF1 are benign neurofibromas, sarcomatous transformation is uncommon and most often occurs within the larger plexiform neurofibromas. Such malignant transformation in a known neurofibroma is often heralded by either radiological evidence of growth or a progression in clinical symptoms (pain and neurological deficit). This progression in symptoms is usually gradual in onset, typically occurring over a period of months. In this report the authors document a neurogenic sarcoma presenting with rapid clinical and radiological growth. The pathological basis of this acute presentation was increased cellular proliferation, with invasion of blood vessels resulting in tumor infarction. The molecular basis of neurofibroma development in NF1 is loss of expression of the NF1 gene and its gene product, neurofibromin, resulting in elevated levels of Ras-guanosine triphosphate. Subsequent molecular events result in sarcomatous transformation.

Cadmium encephalopathy: a report with elemental analysis and pathological findings.

We report a boy of East Indian origin, aged 2 years and 10 months, who died suddenly and unexpectedly. Autopsy findings showed marked cerebral swelling with herniation and histological evidence of marked cerebral edema with perivascular protein leakage, indicating blood-brain barrier disruption. Energy dispersive X-ray microprobe analysis of the brain demonstrated the presence of cadmium and a marked increase in sulfur, predominantly intracellular, both within neuroglial, and to a lesser degree endothelial, cells. Localization was predominantly in the nucleus. Analysis of the kidney showed cadmium deposition in renal tubules and in the basal lamina of podocytes within the glomerulus. Although the environmental source of cadmium remains unknown, we speculate that acute cadmium toxicity led to brain intracellular accumulation with resultant cellular dysfunction, blood-brain barrier disruption, and lethal cerebral edema.

Prevalence and characteristics of post-partum thyroid dysfunction: results of a survey from Toronto, Canada.

In order to determine the prevalence of post-partum thyroid dysfunction in our region, 1,376 randomly selected mothers were enrolled immediately post-partum and followed prospectively over a 2 year period in a large single-center survey. Beginning at delivery, sequential clinical and laboratory assessments were conducted at 6-8 week intervals up to 1 year post-partum and a questionnaire was administered at 3 months post-partum. Among the 1,376 mothers who qualified for entry into this study, 495 (36%) completed at least 3 months follow-up and 300 (22%) completed at least 1 year of follow-up. Abnormalities in post-partum thyroid function (PTD) were detected in 82 of the 1,376 enrolled mothers for an overall minimum prevalence rate of 6.0%. Hyperthyroidism confirmed to be associated with a low 24h radioactive iodine thyroid uptake (RAIU), compatible with the post-partum painless thyroiditis syndrome (PPT) was documented in 44 (3.2% minimum prevalence of typical PPT) of which 39 (89%) had a typical biphasic (hyperthyroid to hypothyroid) PTD while 5 (11%) had only a hyperthyroid phase with a suppressed RAIU without a subsequent hypothyroid phase. Another 17 (1.2%) had transient hyperthyroidism likely due to PPT but were not confirmed by an RAIU test and did not evolve to a detectable hypothyroid phase; and, 17 mothers (1.2%) had hypothyroidism between 5-7 months post-partum without preceding hyperthyroidism, resulting in an overall minimum prevalence of 5.7% for all variants of PPT. Graves' hyperthyroidism occurred in 3 (0.2%) and toxic nodular goiter was present in 1 (0.07%).(ABSTRACT TRUNCATED AT 250 WORDS)

Pathologic nature of cystic thyroid nodules selected for surgery by needle aspiration biopsy.

Sixty euthyroid patients with cystic hypofunctioning thyroid nodules were selected for operation by the criteria of evidence of needle aspiration of cyst fluid with malignant cytologic findings, suspicion of malignancy on the basis of recurrent cyst fluid formation after at least two aspirations, or incomplete decompression after aspiration. Other factors such as size (greater than 3 cm in diameter), history of radiation, and cervical lymphadenopathy were given weight. Radiation exposure occurred in 14% of patients. Surgical pathologic findings revealed malignancy in 32%, adenoma in 43%, and colloid nodule in 25%, with a total neoplasia rate of 75%. The types of malignant tumors included six papillary, six mixed, three follicular, and four Hurthle. Surgical treatment included 26 near total thyroidectomies, 34 partial thyroidectomies, and four neck dissections without major morbidity or deaths. Cytologic false-negative rates were 50% cancer, 50% Hurthle cell 50%, and 60% adenoma, even after nucleopore filtration, emphasizing the value of surgical selection on the basis of cyst response to aspiration. Cytologic false-positive rate in the colloid group was 6% and 25% for false (solid) positive for echography. Bloody fluid occurred in all types of lesions but was more common in the cancer group. Thyroid ultrasonography does not appear to be an important way to assess thyroid nodular disease and has been, in our estimation, superseded by needle aspiration cytology. It should be recognized that cystic thyroid nodules, when selected for operation on the basis of the above mentioned needle biopsy and clinical criteria, have the same frequency of neoplasia and cancer as solid hypofunctioning thyroid nodules. Hence, it is recommended that all cystic lesions of the thyroid gland be assessed in accordance with such criteria to exclude underlying cancer.