Spectrum of Skull Lesions in Pediatric Population: A Single Institutional Experience

Background: Pediatric skull lesions are rare. Here, a single institutional experience dealing with such lesions is presented.Methods: A retrospective review of 18 consecutive pediatric patients was done, who were treated for a variety of skull lesions at Department of Neurosurgery, King Faisal Specialist Hospital and Research Centre, Riyadh from 2010 to 2015. The clinical and pathological features, diagnosis, management and outcome were noted and analyzed.Results: In this study, eighteen skull lesions were identified in 10 male (55%) and 8 female (44%) patients, with a mean age at diagnosis of 9.5 years. These lesions were usually benign and most commonly presented as a painless mass (n = 11). Fronto-orbital (n = 6) was the most frequent site encountered in this study followed by temporo-parietal (n = 3) and parieto-occipital area (n = 2). Gross total resection achieved in 15 patients (83.3%) and reconstruction of skull defect was possible in 11 (61.1%) of them. Excluding the malignant lesions, no recurrence was found in this study cohort for a mean follow up time of 2.8 years.Conclusions: Majority of the skull lesions in children are benign. Pre-operative angiography and embolization is helpful to reduce the intraoperative blood loss. Gross total resection with reconstruction is the treatment of choice. Recurrence is uncommon after gross total resection

Ganglioneuroma of the External Auditory Canal and Middle Ear

Objective. We report an extremely rare case of ganglioneuroma involving the external auditory canal and middle ear. Case Report. Ganglioneuromas are rare benign mature tumors thought to originate from sympathetic ganglions, with the highest incidence in the retroperitoneum, adrenal medulla, and posterior mediastinum. We present a case of ganglioneuroma of the external auditory canal and middle ear. At the age of 12 months, the patient was diagnosed with neuroblastoma stage IV with metastasis to the squamous temporal bone, bone marrow, and skull base. He received a high-risk protocol regimen resulting in complete remission. The patient later presented with recurrent right ear discharge at the age of six years and was diagnosed with ganglioneuroma of external auditory canal and middle ear after appropriate investigations. We report in this article the clinical presentation, investigations, surgical intervention, and follow-up. Conclusion. After the literature review and to our knowledge, this is the first reported case of its kind. Ganglioneuroma maturing from neuroblastoma is one of the theories describing pathophysiology of the disease. Ganglioneuroma should be considered in the differential diagnosis of patients presenting with recurrent ear discharge and decreased hearing in treated cases of neuroblastoma with metastases to temporal bone

Hepatocellular carcinoma first presenting as a tumor of the oral cavity

Hepatocellular carcinoma (HCC) is the sixth most common neoplasm worldwide; HCC metastasis is common affecting 50% of cases. However, metastasis to the oral cavity is extremely infrequent. We present a case of hepatocellular cancer first presenting as a mass lesion at the upper alveolus and review metastatic hepatocellular carcinoma to the oral cavity in 73-year-old male patient. Keywords: Oral cavity, Hepatocellular carcinom

Hormone Receptor Immunoreactivity in Hemangioblastomas and Clear Cell Renal Cell Carcinomas.

Several primary central nervous system (CNS) neoplasms, including meningiomas, spinal cord ependymomas, and acoustic nerve schwannomas, express hormone receptors. In the present study, we investigated hormone receptor immunoreactivity in hemangioblastomas on the basis of recent reports of these tumors complicating pregnancy. We also evaluated cases of renal cell carcinoma (RCC) metastatic to the CNS, hypothesizing that estrogen receptor (ER), progesterone receptor (PR), or androgen receptor (AR) immunoreactivity might help to distinguish between these histologically similar neoplasms. Immunohistochemical analysis for ERs, PRs, and ARs was performed on paraffin-embedded sections of 27 hemangioblastomas, 12 primary clear cell RCCs, and 5 clear cell RCCs metastatic to the CNS. All of the hemangioblastomas demonstrated PR immunoreactivity, whereas 10 of 12 primary RCCs were negative. In addition, four of the five metastatic RCC were PR positive. All but one primary RCC were ER negative. AR immunoreactivity was seen in three hemangioblastomas, five primary RCCs, and one metastatic RCC. Although hormone receptor immunoreactivity was unable to distinguish between hemangioblastoma and clear cell RCC metastatic to the CNS, the identification of PR immunoreactivity in hemangioblastomas is a new finding that might have adjuvant therapy treatment implications

Neuropathologic Evidence That The Lewy Body Variant of Alzheimer Disease Represents Coexistence of Alzheimer Disease and Idiopathic Parkinson Disease.

We undertook this study to investigate the neuropathologic relationships among Alzheimer disease (AD), idiopathic Parkinson disease (PD), and the Lewy body variant of AD (AD/LBV). We retrieved 30 autopsy cases in which Lewy bodies (LB) had been identified in the substantia nigra (SN) in routine hematoxylin-eosin-stained sections. Twenty-two of the cases had a primary clinical diagnosis of dementia and neuropathologic changes of AD; 12 of these demented patients also had clinical parkinsonism. Eight cases had clinical and neuropathologic evidence of PD with minimal or no AD neuropathology, though 6 had clinical dementia. Controls consisted of 6 cases of AD without SN LB by hematoxylin-eosin, and 5 neurologically normal aged controls. Paraffin sections of SN, superior temporal gyrus, and cingulate gyrus from each case were immunostained with rabbit anti-ubiquitin antiserum, randomized, and analyzed individually by light microscopy, and the density of LB-like profiles in each section were graded. None of 5 nondemented aged controls showed any neocortical LB, even though 2 had significant numbers of incidental SN LB by ubiquitin immunostaining. Of 6 AD cases without SN LB by hematoxylin-eosin, 3 had rare SN LB on ubiquitin stain, 1 of which showed rare neocortical Lewy-like profiles. Seven of 8 PD cases showed neocortical LB, including the 6 with dementia. Twenty-one of 22 AD cases with SN LB showed ubiquitin-immunoreactive Lewy-like bodies in the neocortex that were statistically significantly greater in number than in either pure PD or pure AD cases. The frequent occurrence of LB in the neocortex in PD alone suggests that AD/LBV likely represents mixed AD/PD. However, AD neuropathology may favor or promote the formation of neocortical LB in patients who go on to develop mixed AD/PD pathology

A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted patients. The gene is known to encode a mitochondrial ubiquinol oxidoreductase that interacts with reticulon 4 and is thought to be a mitochondrial antioxidant NADPH oxidoreductase. Here, we describe two unrelated consanguineous families from the northern region of Saudi Arabia harboring a missense variant (RTN4IP1:NM_032730.5; c.475G<T, p.Val159Phe) in the gene. Clinically affected individuals presented with intellectual disability, encephalopathy, ataxia, optic atrophy, and seizures. Based on whole exome sequencing and confirmatory Sanger sequencing, the variant was fully segregated with the phenotype in the families, absent among large ethnically matching controls as well as numerous in-house exomes, and predicted to be pathogenic by different in silico classifiers. Structural modeling and immunoblot analyses strongly indicated this variant to be pathogenic. Since the families belong to one of the tribal inhabitants of Saudi Arabia, we postulate that the variant is likely to be a founder. We provide the estimated age of the variant and present data confirming the disease-causality of this founder variant