Osteoclast-like giant-cell tumor of the parotid with salivary duct carcinoma: Case report and cytologic, histologic, and immunohistochemical findings

Primary giant-cell tumor of the salivary gland is a rare lesion with an incompletely characterized histogenesis. To the best of our knowledge, only 16 cases have been previously documented in the English-language literature. We report a new case, which occurred in a 75-year-old man who presented with a parotid mass and cervical lymphadenopathy. The patient underwent a left total parotidectomy and cervical lymph node dissection. As far as we know, ours is the only reported case of a primary giant-cell tumor of the salivary gland in which the patient presented with lymph node metastasis. Because so little is known about giant-cell tumor of the salivary gland, we use the occasion of this case report to describe the cytologic, histologic, and immunohistochemical characteristics that we observed

BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes

Brown-Vialetto-Van Laere (BVVL) and Fazio-Londe are disorders with amyotrophic lateral sclerosis-like features, usually with recessive inheritance. We aimed to identify causative mutations in 10 probands. Neurological examinations, genetic analysis, audiometry, magnetic resonance imaging, biochemical and immunological testings, and/or muscle histopathology were performed. Mutations in known causative gene SLC52A3 were found in 7 probands. More importantly, only 1 mutated allele was observed in several patients, and variable expressivity and incomplete penetrance were clearly noted. Environmental insults may contribute to variable presentations. Putative causative mutations in other genes were identified in 3 probands. Two of the genes, WDFY4 and TNFSF13B, have immune-related functions. Inflammatory responses were implicated in the patient with the WDFY4 mutation. Malfunction of the immune system and mitochondrial anomalies were shown in the patient with the TNFSF13B mutation. Prevalence of heterozygous SLC52A3 BVVL causative mutations and notable variability in expressivity of homozygous and heterozygous genotypes are being reported for the first time. Identification of WDFY4 and TNFSF13B as candidate causative genes supports conjectures on involvement of the immune system in BVVL and amyotrophic lateral sclerosis

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran

Reza Shervin Badv,1 Yalda Nilipour,2 Shahram Rahimi-Dehgolan,3 Ali Rashidi-Nezhad,4 Masood Ghahvechi Akbari51Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences (TUMS), Tehran, Iran; 2Pediatric Pathology Research center, Research Institute for Children Health, Mofid Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 3Physical Medicine and Rehabilitation Department, Imam Khomeini Hospital Complex (IKHC), Tehran University of Medical Sciences (TUMS), Tehran, Iran; 4Maternal, Fetal and Neonatal Research Center, Imam khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran; 5Physical Medicine and Rehabilitation Department, Children’s Medical Center, Tehran University of Medical Sciences (TUMS), Tehran, IranAbstract: Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an autosomal recessive trait resulting from mutations in the survival motor neuron gene (SMN-1). On the other hand, a rare variant of this condition, named progressive myoclonic epilepsy subtype (SMA-PME) occurs in the result of a mutation in N-acylsphingosine amidohydrolase-1 gene (ASAH-1). The latter gene is responsible for lysosomal acid-ceramidase production. SMA-PME has been characterized by a progressive muscle weakness from ages 3–7 years, accompanied by epilepsy, an intractable seizure, and sometimes sensorineural hearing loss. In this report, we have presented a 15-year old female patient with SMA-PME that was attended to neurology clinic for a new onset tremor, seizure and proximal weakness in all limbs. We identified a homozygous mutation in exon II on her ASAH-1 gene [c.173C>T (p. Thr58Met)]. Also, a modest reduction was found in ceramidase-activity. As was expected patient`s seizures did not respond to conventional therapies.Keywords: muscular atrophy, case report, myoclonic epilepsies, seizure