Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia.

De novo sensorineural hearing loss sequelae of narrow, duplicated internal auditory canal: Case series and literature review.

Introduction: A narrow duplicated internal auditory canal (IAC) is an extremely rare anomaly, likely associated with congenital sensorineural hearing loss due to aplasia/hypoplasia of the vestibulocochlear nerve or the cochlear branch alone. We aimed to review our experience with IAC duplication, describe its clinical characteristics, and present a literature review.

Case Presentation: Our Otology database was searched for children who showed duplication of the IAC.

Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature.

Our case involved a 1-year-old female with multiple admissions for chest infections. Given her family history and high clinical suspicion, a diagnosis of Griscelli syndrome and hemophagocytic lymphohistiocytosis was made. Her work-up included a brain MRI, which revealed diffuse volume loss and corpus callosum hypogenesis associated with a diffuse simplified pattern of the sulci and gyri compatible with lissencephaly.

Neuroschistosomiasis mimicking lower back pain: case report of a rare differential diagnosis in a pediatric patient.

Background: Spinal myelitis is an infrequent manifestation of spinal cord infection. It is caused by the species, which are endemic in South America, part of the Middle East, and Africa.

Case Presentation: We report the case of a 13-year-old male adolescent complaining of progressive lower back pain and weakness of the lower extremities for 3 days.

An atypical case of intracerebral schwannoma.

We report a case of intracerebral cystic schwannoma in the temporal fossa manifested as a gradually worsening headache in a 49-years-old woman. Computed Tomography (CT) and magnetic resonance imaging (MRI) showed a left temporal partly cystic, partly solid mass. The preoperative diagnosis was astrocytoma or glioblastoma multiforme (GBM), but microscopic examination of the mass showed the characteristic pattern with cellular Antony A component.