A Novel Homozygous Founder Variant of 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 , 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.

Parotid Gland Solitary Fibrous Tumor Presenting as a Long Duration Mass: A Case Report.

The solitary fibrous tumor (SFT) is a tumor of uncertain histogenesis, affecting deep soft tissues, particularly the pleura (pulmonary) and extrapulmonary sites including thighs, retroperitoneum, other serosal surfaces, and cranial and spinal meninges. SFT and hemangiopericytoma are now considered the same entity, with general agreement on referring to this group of tumors as "SFT." SFTs are generally benign tumors with small subsets of malignant ones.

Right Temporal Brain Metastases Arising Three Years after Curative Resection of Gastric Cancer: A Case Report.

Background: Gastric cancer can metastasize to multiple organs but the metastases to brain is very rare. We report a case of recurrent gastric cancer. The only site of recurrence is brain metastases that occurred three years after curative resection.

Follicular dendritic cell sarcoma of parapharyngeal space: a case report and review of the literature.

Follicular dendritic cell sarcoma (FDCS) of the parapharyngeal space is a rare malignant tumor. Only eleven cases of FDCS of the parapharyngeal space have been reported in English literature. Most of the reported cases developed tumor recurrence within 1 year or had metastasis.

Lateral pharyngeal wall myeloid sarcoma as a relapse of acute biphenotypic leukemia: a case report and review of the literature.

Introduction: Myeloid sarcoma is a rare extramedullary malignant tumor composed of immature myeloid cells. The tumor can affect any part of the body. Involvement of the oral cavity and nasopharynx has been reported in 50 cases.

Posterior fossa tumor in a 2 year-old girl.

We report a case of a 2 year-old girl who presented with three weeks' history of deterioration of walking, then became unable to walk and later she developed projectile vomiting. Neurological examination revealed bilateral papilledema, nystagmus, and truncal ataxia with intention tremor. Radiological studies showed an enhancing mass in the posterior fossa extending from the cerebellum to the roof of the fourth ventricle.