Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.

Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous diseases caused by mutations affecting neuromuscular transmission. Even if the first symptoms mainly occur during childhood, adult neurologists must confront this challenging diagnosis and manage these patients throughout their adulthood. However, long-term follow-up data from large cohorts of CMS patients are lacking and the long-term prognosis of these patients is largely unknown. We report the clinical features, diagnostic difficulties, and long-term prognosis of a French nationwide cohort of 235 adult patients with genetically confirmed CMS followed in 23 specialized neuromuscular centres. Data were retrospectively analysed. Of the 235 patients, 123 were female (52.3%). The diagnosis was made in adulthood in 139 patients, 110 of whom presented their first symptoms before the age of 18. Mean follow-up time between first symptoms and last visit was 34 years (SD = 15.1). Pathogenic variants were found in 19 disease-related genes. CHRNE-low expressor variants were the most common (23.8%), followed by variants in DOK7 (18.7%) and RAPSN (14%). Genotypes were clustered into four groups according to the initial presentation: ocular group (CHRNE-LE, CHRND, FCCMS), distal group (SCCMS), limb-girdle group (RAPSN, COLQ, DOK7, GMPPB, GFPT1), and a variable-phenotype group (MUSK, AGRN). The phenotypical features of CMS did not change throughout life. Only four genotypes had a proportion of patients requiring intensive care unit (ICU) admission that exceeded 20%: RAPSN (54.8%), MUSK (50%), DOK7 (38.6%) and AGRN (25.0%). In RAPSN and MUSK patients most ICU admissions occurred before age 18 years and in DOK7 and AGRN patients at or after 18 years of age. Different patterns of disease course (stability, improvement and progressive worsening) may succeed one another in the same patient throughout life, particularly in AGRN, DOK7 and COLQ. At the last visit, 55% of SCCMS and 36.3% of DOK7 patients required ventilation; 36.3% of DOK7 patients, 25% of GMPPB patients and 20% of GFPT1 patients were wheelchair-bound; most of the patients who were both wheelchair-bound and ventilated were DOK7 patients. Six patients died in this cohort. The positive impact of therapy was striking, even in severely affected patients. In conclusion, even if motor and/or respiratory deterioration could occur in patients with initially moderate disease, particularly in DOK7, SCCMS and GFPT1 patients, the long-term prognosis for most CMS patients was favourable, with neither ventilation nor wheelchair needed at last visit. CHRNE patients did not worsen during adulthood and RAPSN patients, often severely affected in early childhood, subsequently improved.

Non-convulsive status epilepticus associated with Whipple's disease.

A 69-year-old woman developed non-convulsive status epilepticus during inpatient investigation for abdominal pain. Initial detailed investigations did not identify the cause of seizures, but a jejunal biopsy and PCR testing in various fluids led to the diagnosis of Whipple's disease with neurological involvement. The seizures were controlled but she subsequently had moderate cognitive impairment. Whipple's disease is an important diagnosis, being treatable with antibiotics. Testing for Whipple's disease is not part of the recommended workup in for status epilepticus, but this case highlights the importance of considering this condition.

Assessment of an under-mattress sensor as a seizure detection tool in an adult epilepsy monitoring unit.

OBJECTIVE: Because of SUDEP (Sudden and unexpected death in epilepsy) and other direct consequences of generalized tonic-clonic seizures, the use of efficient seizure detection tool may be helpful for patients, relatives and caregivers. We aimed to evaluate an under-mattress detection tool (EMFIT®) in real-life hospital conditions, in particular its sensitivity and false alarm rate (FAR), as well as its impact on patient care. METHODS: We carried out a retrospective study on a cohort of patients with epilepsy admitted between September 2017 and June 2021 to Amiens University Hospital for a video-EEG of at least 24 h, during which at least one epileptic seizure was recorded. All video-EEGs records were analyzed visually in order to assess the sensitivity of the under-mattress tool (triggering of the alarm) and to classify the seizure type (convulsive/non convulsive). We also considered whether nurses intervened during the seizure, and the time of their intervention if applicable. An additional prospective survey was conducted over 272 days to analyze the FAR of the tool. RESULTS: A total of 220 seizures were included in the study, from 55 patients, including 23 convulsive seizures from 15 patients and 197 non-convulsive seizures. Sensitivity for convulsive seizure detection was 69.6%. As expected, none of the non-convulsive seizures was detected. The false alarm rate was 0.007/day. Median trigger time was 74 s, decreasing to 5 s for generalized tonic-clonic seizure. The frequency of nurses' intervention during convulsive seizures was significantly greater in case of the alarm triggering (100% vs 57%, p<0.02). SIGNIFICANCE: These results suggest that EMFIT® sensor is able to detect convulsive seizures with good sensitivity and low FAR, and allows caregivers to intervene more often in the event of a nocturnal seizure. This would be an interesting complementary tool to better secure the patients with epilepsy during hospitalization or at home.

A pain like no other: From cluster to headache to Eagle's syndrome, a case report.

BACKGROUND: Eagle's syndrome, also called stylohyoid complex syndrome, is a rare syndrome pathology characterised by latero-cervical pain radiating to the face, linked to an abnormal enlargement of the styloid or calcification of the stylo-hyoid ligament. CASE: We report here the case of a young man of 25 suffering from cluster headache resistant to treatments, revealing Eagle's syndrome. CONCLUSION: Only surgery led to a real improvement of his condition.