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. This retrospective study conducted at seven major tertiary medical centers examined the phenotypic and genotypic variabilities, clinical and diagnostic findings, and treatment outcomes among 20 Saudi patients with DADA2 from 14 families. The median age of the study cohort was 9.5 years (4-26 years). The clinical presentation was before the age of 5 months in 25% of patients. Homozygous c.1447-1451del mutation was the most frequent ADA2 alteration (40%), followed by c.882-2A:G (30%). All tested patients exhibited absent or near-absent ADA2 activity. Phenotypic manifestations included stroke (40%), hematological abnormalities (95%), lymphoproliferation (65%), and recurrent infection (45%). Five and three patients had extracranial vasculitis features and Hodgkin lymphoma, respectively. Atypical manifestations included growth retardation (30%) and transverse myelitis. Anti-tumor necrosis factor (anti-TNF) therapy was the main treatment. Some patients underwent blood transfusion, splenectomy, cyclosporine and colony-stimulating factor therapies, and hematopoietic stem cell transplantation due to anti-TNF therapy failure. Fulminant hepatitis and septic multiorgan failure caused mortality in three patients. Thus, this study revealed the variability in the molecular and clinical characteristics of DADA2 in the study cohort with predominant aberrant hematological and immunological characteristics. Consensus diagnostic criteria will facilitate early diagnosis and treatment. Additionally, disease registries or large prospective studies are needed for evaluating rare disease complications, such as cancer.

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. Clinical characteristics of two children with bilateral duplication of the IAC are described. Data regarding clinical history, auditory assessment, magnetic resonance imaging (MRI), and computed tomography (CT) were collected and analyzed. The separated, accessory bony canals were demonstrated on high-resolution CT scans, and the nerves were demonstrated on MRI. DISCUSSION: To date, a few cases of narrow duplicate IAC have been reported in the literature, Approximately 20% of patients with congenital SNHL are found to show inner-ear bony abnormalities on CT, but much uncertainty still exists about the mechanism underlying IAC stenosis.5 Imaging findings of the temporal bone in our case series demonstrated asymmetrical narrowing of both IACs, there is no clear evidence in the literature supporting the predominance of one side over the other. In our series, facial nerve function was intact bilaterally. As for our cases, both patients were enrolled in a single-sided deafness evaluation for a trial of options such as BAHA, CROS, cochlear implants, and other non-implantable hearing aids. Furthermore, addressing the important factors will optimize the outcomes including surgery at early age to optimize neural plasticity, with intense long-term therapy. CONCLUSION: Congenital duplication of the IAC likely convoying sensorineural hearing loss due to aplasia/hypoplasia of the vestibulocochlear nerve. Early diagnosis and intervention are essential to optimize patient outcomes.

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. We describe hypogenesis of the corpus callosum and lissencephaly for the first time in this syndrome.

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. Immunohistochemically, the tumor was positive for S-100 protein. These findings are consistent with a schwannoma. Intracerebral schwannomas not related to cranial nerves are rare and most reported cases involved young patients.