Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).

Congenital muscular dystrophy type 1A (MDC1A) is caused by recessive variants in laminin α2 (LAMA2). Patients have been found to have white matter signal abnormalities on magnetic resonance imaging (MRI) but rarely structural brain abnormalities. We describe the autopsy neuropathology in a 17-year-old with white matter signal abnormalities on brain MRI.

Abnormal downward gaze and cold caloric examination due to propofol: a case study.

Background: An adolescent girl had isolated abnormal downward gaze and oculovestibular (cold caloric) testing during propofol administration, prompting concern for brainstem abnormality.

Patient: An otherwise healthy 16-year-old girl presented after an intentional hanging. Brainstem reflexes were normal except that both eyes exhibited tonic downward gaze on initial examination.

Robot-assisted thoracoscopic thymectomy for treating myasthenia gravis in children.

Introduction: In the United States, the prevalence of myasthenia gravis (MG) is approximately 14-20 per 100,000. One treatment option involves a thymectomy, which can lead to remission of symptoms. The amount of thymic tissue removed is correlated with a better outcome for patients.