Pneumocephalus is commonly associated with head and facial trauma, ear infection or surgical interventions. We describe the rare case of a spontaneous pneumocephalus arising from lateral mastoid air cells. A 48-year-old man presented with a 10-day history of sudden, repetitive, 'hammering-like' acoustic sensations in his left ear that were followed by word-finding difficulties and loss of vision in the right visual field. Imaging revealed a large, left temporal pneumatocele associated with a small acute intracerebral hemorrhage. Left temporal and subtemporal craniotomy and decompression were performed. Further exploration confirmed a dural and osseous defect in the anterolateral surface of the mastoid that was consecutively closed watertight. Although extremely rare, a spontaneous pneumocephalus with mastoidal origin should be considered as a possible diagnosis in patients with suggestive acoustic phenomena and other non-specific neurological symptoms.

ObjectiveTo expand the spectrum of anti-IgLON5 disease by adding 5 novel anti-IgLON5–seropositive cases with bulbar motor neuron disease-like phenotype.MethodsWe characterized the clinical course, brain MRI and laboratory findings, and therapy response in these 5 patients.ResultsPatients were severely affected by bulbar impairment and its respiratory consequences. Sleep-related breathing disorders and parasomnias were common. All patients showed clinical or electrophysiologic signs of motor neuron disease without fulfilling the diagnostic criteria for amyotrophic lateral sclerosis. One patient regained autonomy in swallowing and eating, possibly related to immunotherapy.ConclusionIgLON5 disease is an important differential diagnosis to evaluate in patients with bulbar motor neuron disease-like phenotype and sleep disorders. There is need for a deeper understanding of the underlying pathobiology to determine whether IgLON5 disease is an immunotherapy-responsive condition.

Collagen VI-related myopathies are caused by mutations of COL6A1, COL6A2, and COL6A3 and present with a wide phenotypic spectrum ranging from severe Ulrich congenital muscular dystrophy to mild Bethlem myopathy. Here, we report a consanguineous Kurdish family with 3 siblings affected by autosomal-recessive Bethlem myopathy caused by compound heterozygous mutations of COL6A3. We found the previously described missense mutation c.7447A > G/p.(Lys2483Glu) and a novel large deletion encompassing the exon 1-39 of the COL6A3 gene. Apart from the classical clinical symptoms, all patients had keratoconus, which expands the phenotype of the collagen VI-related myopathies.

Amyotrophic lateral sclerosis (ALS) represents the most common motoneuron disorder in adulthood. It is characterized by selective degeneration of the motoneurons. About 10% of patients have a genetically determined ALS. Clinically, ALS is characterized by coexistence of signs of the first motoneuron, such as spasticity and hyperreflexia, as well as the second motoneuron, such as muscular atrophy and fasciculations. If such signs are present in at least three regions and if other possible causes have been excluded, a definite diagnosis of ALS can be made based on the revised El-Escorial criteria. Initial manifestations are often focalized and generalization develops during the course. The glutamate antagonist riluzole is worldwide the only approved ALS treatment. However, symptomatic treatments to ameliorate spasticity, drooling, speech and swallowing problems, and assisted ventilation to treat respiratory failure are essential.