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. Dystrophic pathology was observed in skeletal muscle, and the sural nerve manifested a mild degree of segmental demyelination and remyelination. A diffuse, bilateral cobblestone appearance, and numerous points of fusion between adjacent gyri were apparent on gross examination of the cerebrum. Brain histopathology included focal disruptions of the glia limitans associated with abnormal cerebral cortical lamination or arrested cerebellar granule cell migration. Subcortical nodular heterotopia was present within the cerebellar hemispheres. Sampling of the centrum semiovale revealed no light microscopic evidence of leukoencephalopathy. Three additional MDC1A patients were diagnosed with cobblestone malformation on brain MRI. Unlike the autopsied patient whose brain had a symmetric distribution of cobblestone pathology, the latter patients had asymmetric involvement, most severe in the occipital lobes. These cases demonstrate that cobblestone malformation may be an important manifestation of the brain pathology in MDC1A and can be present even when patients have a structurally normal 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. After propofol was suspended for 30 minutes in order to evaluate her level of responsiveness, her eyes normalized to midposition from tonic downward gaze. With reinitiation of propofol, the eyes returned to the former downward position. C-collar stabilization prohibited the usual oculocephalic (doll's eyes) evaluation. Right-sided cold water instillation resulted in right eye exodeviation to the right with minimal medial movement of the left eye to the right. After left-sided cold water instillation, the left eye deviated downward with minimal medial deviation of the right eye. She was extubated and off sedatives within 48 hours of admission, and normal ocular motility returned. CONCLUSION: This patient exhibited abnormal ocular motility and cold caloric response with single-agent propofol exposure. The remainder of her cranial nerve examination was normal, and her normal imaging studies and prompt resolution led us to suspect a propofol effect. Physicians should be aware of the pharmacologic alterations of ocular motility and cold caloric testing when propofol is administered.

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. Thus, it is critical that the procedure used when performing a thymectomy maximize the resection of thymic tissue. Robotic-assisted thoracoscopic thymectomy provides a minimally invasive platform that avoids the mortality and morbidity of a median sternotomy while providing better visualization and a more delicate dissection than is available in a standard thoracoscopic procedure. PATIENTS AND METHODS: Following Institutional Review Board approval, in total, 9 patients who underwent robotic thymectomy were reviewed. Intraoperative statistics such as operative time and blood loss were reviewed from operative records. Postoperative outcomes such as hospital stay, discharge medications, and complications were reviewed from hospital charts. Lastly, disease response was evaluated in consultation with a pediatric neurologist who specializes in MG. RESULTS: Age at operation ranged from 2 to 15 years of age (average, 9.4 years). A majority of patients had an MGFA classification of II or greater (n=5). All patients were on pyridostigmine preoperatively, and 7 of 9 (77%) were taking prednisone. Mean operative time was 160.1±6.1 minutes. Average postoperative hospital stay was 1.1±0.3 days. One patient had a documented persistent pneumothorax on postoperative Day 1, which was treated with nasal cannula oxygen for an additional day. There were no additional operative complications, and all patients were discharged home on acetaminophen with codeine for pain control. Eight of 9 patients had improvement in MG symptoms after the procedure. CONCLUSIONS: Robotic-assisted thoracoscopic thymectomy is a safe and effective operation for children with MG. Robotic assistance allows for articulating instruments, three-dimensional visualization, and minimal blood loss. These factors may allow for a more complete resection compared with a standard thoracoscopic thymectomy.