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Hot water epilepsy (HWE) is a subtype of reflex epilepsy in which seizures are triggered by the head being immersed in hot water. Hot water or bathing epilepsy is the type of reflex epilepsy most frequently encountered in our clinic. We describe our patients with HWE and also discuss the clinical features, therapeutic approaches, and prognosis. Eleven patients (10 boys, 1 girl), aged 12 months to 13 years, admitted to the pediatric neurology clinic between January 2018 and August 2019, and diagnosed with HWE or bathing epilepsy based on International League Against Epilepsy (ILAE)-2017, were followed up prospectively for similar to 18 months. Patients' clinical and electroencephalography (EEG) findings and treatment details were noted. All 11 patients' seizures were triggered by hot water. Age at first seizure was between 2 months and 12 years. Seizure types were generalized motor seizures, absence, and atonic. EEG was normal in two patients, but nine patients had epileptiform discharges. Magnetic resonance imaging of the brain was performed and reported as normal (except in one case). Histories of prematurity were present in two patients, unprovoked seizures in one, and low birth weight and depressed birth in the other. Patients with HWE have normal neuromuscular development and neurological examination results, together with prophylaxis or seizure control with a single antiepileptic drug, suggesting that it is a self-limited reflex epilepsy. WOS:000571792200003 2-s2.0-85091574351 PubMed: 32294767

Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. In our study all patients presented with highly similar clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance. Supplementary Information The online version contains supplementary material available at 10.1007/s00401-021-02319-x.

Background Glomus tumors are rare, benign, vascular neoplasms arising from the glomus body. Although they can develop in any part of the body, they commonly do so in the upper extremities, most frequently subungual areas. They can be either solitary or multiple. Most typically they present as a small, round, bluish nodule visible through the nail plate with a classic triad of symptoms: hypersensitivity to cold, heightened pinprick sensitivity, and paroxysmal pain. Several tests can help in diagnosing these tumors with multiple imaging tools such as X-ray, magnetic resonance imaging, and ultrasonography. However, only histology can confirm the diagnosis. Complete surgical excision of the tumor is the only effective treatment to achieve pain relief and low recurrence rate. Case presentation We report here a rare case of a 54-year-old Moroccan Berber woman presenting with a 10-year history of a glomus tumor at an unusual site. Dermoscopy and histology were helpful to confirm the diagnosis. Conclusions We aim to discuss clinical, dermoscopical aspects of this tumor and surgical modalities. We also emphasize the importance of keeping this tumor in mind among the possibilities of differential diagnosis of painful digital nodules.