Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient.

OBJECTIVES: Mutations in the MYH11 gene result in smooth muscle cell dysfunction and are associated with familial thoracic aortic aneurysms and dissection. We describe a pediatric patient with a stroke and a pathogenic MYH11 IVS32G>A mutation, and a phenotype similar to ACTA2. METHODS: A proband girl with an acute ischemic stroke underwent genetic analysis and 7T high-resolution MRI. RESULTS: A 12-year-old girl presented with a right middle cerebral artery occlusion. She received thrombolysis and underwent mechanical thrombectomy. An extensive stroke work-up was negative. A three-generation pedigree showed a splice site mutation of MYH11 IVS32G>A of the proband and three more family members. A 7T-MRI showed "broomstick-like" straightening of distal arterial segments, a V-shaped anterior corpus callosum and a post-stroke cystic area of encephalomalacia. This vascular appearance and parenchymal abnormalities typically present in patients with an ACTA2 phenotype. 7T-MRI also demonstrated thickening of the right middle cerebral arterial wall. DISCUSSION: This case suggests that MYH11 patients may have a similar angiographic and brain parenchymal phenotype to patients with ACTA2 mutations. This is the first report of arterial wall thickening in a MYH11 stroke patient using 7T-MRI. Patients with MYH11 mutations may display a focal cerebral steno-occlusive arteriopathy that may lead to stroke.

Central Nervous System Infections Due to Streptococcus anginosus Group: A Single-Center Case Series.

BACKGROUND: The Streptococcus anginosus group is known for its pathogenicity and tendency for abscess formation. The S anginosus group also causes brain abscesses, yet few studies describe this presentation in the pediatric neurology literature. We describe 5 patients with central nervous system infection due to S anginosus group evaluated by child neurologists at the University of Iowa from 2014 to 2020. METHODS: We performed a retrospective case series review of electronic medical records detailing the clinical presentation and course of pediatric patients with S anginosus group-associated central nervous system infection. RESULTS: We identified 4 males and 1 female (8, 11, 14, 16, and 21 years). Brain imaging showed abscesses in 4 cases and empyema in 1. All underwent neurosurgical intervention and antibiotic treatment. Cultures obtained during the neurosurgical procedure grew S anginosus group (4 cases with Streptococcus intermedius and 1 with Streptococcus constellatus). An 8-year-old boy with a delayed diagnosis died from brain herniation. CONCLUSIONS: Central nervous system infections due to the S anginosus group can be life-threatening. Neuroimaging plays a key role in the early identification of abscesses. Prompt surgical intervention and timely initiation of antibiotics are critical for optimal outcomes.

A 20-Month-Old Girl With Fever, Seizures, Hemiparesis, and Brain Lesions Requiring a Diagnostic Brain Biopsy.

We report a case of a 20-month-old girl with atypical presentation of a fairly common condition. She presented with acute onset of fever, seizures, and hemiparesis. Her cerebrospinal fluid showed total nucleated cells 10/mm3 with lymphocyte dominance. Polymerase chain reaction was negative for herpes simplex virus. Computed tomography of head showed a cerebral hemorrhage of the left frontal lobe and small subarachnoid hemorrhage in the right frontal region. Brain magnetic resonance imaging revealed multiple foci of hyperintensity in bilateral parietal lobes and right basal ganglia. She remained clinically stable without a specific therapy. Her diagnosis was made after a brain biopsy.