BACKGROUND AND PURPOSE: Biotin-responsive basal ganglia disease is an autosomal recessive neurometabolic disorder presenting with subacute encephalopathy that can cause death if left untreated. The purpose of this study is to assess the neuroimaging and clinical features of the disease before and after treatment with biotin.

Otologic manifestations in chronic lymphocytic leukemia (CLL) are common presentations. However, temporal bone metastasis is rarely described as a sign of relapsing CLL. A 65-year-old male diabetic patient known to have CLL on remission presented to the outpatient otolaryngology clinic with a one month history of progressive bilateral otalgia and right otorrhea, despite multiple courses of antibiotics. He was admitted with suspicion of malignant otitis externa. Left ear showed large hemorrhagic bullae on the posterior segment of tympanic membrane. Left sided facial paralysis developed on the third day of admission. Full recovery of facial paralysis is achieved by 10 days course of corticotherapy. Histological examination of middle ear tissue biopsy showed infiltration by monotonous small lymphoid cells, showing round nuclei, condensed chromatin suggestive of CLL. Although rare, unusual otologic manifestations should raise the suspicion of a temporal bone metastasis as a sign of relapsing CLL.

Purpose Stroke is a leading cause of severe long-term disability and death worldwide. This study aimed to determine the genetic background, causative factors, and diagnostic and outcome measures of pediatric stroke in an area endemic to sickle cell disease (SCD). Patients and Methods This retrospective review analyzed pediatric patients with acute stroke who were admitted to King Fahd Hospital of the University, Eastern Province, Saudi Arabia, between January and June 2019. We assessed 49 cases based on computed tomography (CT) and magnetic resonance imaging (MRI) findings. Patients with incomplete records or unavailable radiological images were excluded. Results A high likelihood of familial coexistence of stroke was detected in patients with affected siblings (33%). Among various central nervous system manifestations, motor weakness (28.6%) and headache (20.4%) were the most common symptoms/signs. Hypoxic-ischemic encephalopathy (HIE) (28.6%), SCD (22.5%), and moyamoya disease (14.3%) were the most prevalent underlying etiologies. CT without intravenous contrast was the most used initial imaging technique (92.5%). An arterial blockage was more prevalent (53.4%) than a venous infarct (46.6%) (p = 0.041), while arterial ischemic stroke was more prevalent (56.5%) than hemorrhagic stroke (43.5%). The middle cerebral artery (MCA) was most affected (63.5%), followed by the anterior cerebral artery (22.7%) and posterior cerebral artery (13.6%). Most patients were managed with medical treatment (86.1%). No mortalities occurred during the initial hospital stay. The mean length of hospital stay was 12 days. Conclusion HIE was the most prevalent etiology of pediatric stroke. Motor weakness and headache were the most common initial manifestations. Arterial ischemic stroke was more prevalent than venous or hemorrhagic stroke. Considering the rarity of pediatric stroke, future studies should be performed with a aborative effort nationally and internationally.

Background Porencephaly is an extremely rare neurological disease characterized by the presence of solitary or multiple degenerative cerebrospinal fluid (CSF) cavities within the brain parenchyma. Case Report We describe a case involving a 23-year-old male who presented with involuntary movements of the left upper limb of 6 months' duration. A diagnosis of porencephaly was confirmed by magnetic resonance imaging (MRI). Conclusion The rarity of occurrence and atypical presentation of such a lesion present a challenge to clinicians. Little is known about the pathogenesis and appropriate management of porencephaly. Further studies of the implications of porencephaly for neurodevelopment and behavior are needed.

Background: Intracranial atherosclerotic disease (ICAD) is an important etiologic subtype of acute ischemic stroke (AIS). However, little direct evidence is available regarding ICAD-related stroke in Saudi Arabia (SA). This study aimed to identify the prevalence and describe the clinico-radiological spectrum of ICAD-related AIS in a SA cohort.Methods: This was a hospital-based retrospective study enrolling patients with ICAD-related AIS between 2017 and 2020. The electronic charts were reviewed. The mechanisms of stroke were identified as artery-to-artery embolization (AAE), in situ thrombotic occlusion, hypoperfusion, or perforator branch occlusion. Pearson's χ 2 test was performed to calculate the P values to establish the statistical significance of factors that could correlate with the mechanisms of stroke and functional outcome.Results: ICAD was found in 133 of AIS comprising 26% of total. Data from all patients were reviewed. Left ICA (25%) was the most frequently affected vessel. Territorial pattern (63.9%) was the most common infarct pattern, and AAE (44.3%) was the most common underlying mechanism. Perforator branch occlusion was more prevalent in women than in men. Malignant and hemorrhagic transformation (P = 0.00) were more prevalent in the AAE group. Left-sided vascular involvement was statistically associated with unfavorable outcomes than the right (P = 0.019). Conclusions:The prevalence of ICAD in our cohort from Western Asia did not differ from that in Southern Asia. ICA involvement was observed more frequently than previously reported. Further research from SA is required to better understand ICAD-related strokes in this region.

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