Clin Case Rep

The early onset of gait akinesia should not rule out the diagnosis of hereditary chorea. It would be helpful to proceed to a whole‐genome and long‐read sequencing in order to track a new pathogenic variant including noncoding repeat expansion

Ann Phys Rehabil Med

BACKGROUND: Epicondylar tendinopathy ("tennis elbow") is a serious issue in manual labourers. Symptoms can persist over months or even more than 1 year, even when treated with trinitrine patches, acupuncture, sclerosis of neovessels, shock-wave therapy, autologous blood injections, platelet-rich plasma or hyaluronic acid. Botulinum toxin (BoNT-A) injections showed promising short-term results, but the long-term beneficial effects are not yet known. OBJECTIVE: We aimed to assess the long-term effect, side effects and recurrence rate after BoNT-A injections on chronic lateral epicondylar tendinopathy during 1 year. METHODS: This open study followed a 3-month randomized controlled trial. We included 50 patients followed at day 0 (V0), 90 (V1), 180-270 (V2) and 365 (V3). The main judgment criterion was the number of BoNT-A injections required to achieve pain relief with no further request for treatment by the patient. RESULTS: After one BoNT-A injection, 22/50 (44%) patients did not ask for further treatment during follow-up because of complete pain relief, and 20/50 (40%) asked for a second BoNT-A injection. For 20 patients with a second injection, 18 (90%) did not ask for further treatment during follow-up. Only 1 patient had a recurrence of pain after an initial pain relief of greater than 75%. Quality of life, and painful and maximal gripping force improved significantly at V1, V2 and V3 as compared with V0, and repercussions on daily and professional activities decreased significantly (P<0.05). CONCLUSIONS: One or 2 BoNT-A injections has favourable results for chronic epicondylar tendinopathy

Eur J Med Genet

Schwannomatosis is a rare affection predisposing to multiple peripheral neurologic tumors development. Approximatively, one third of patients with schwannomatosis are carriers of a germline mutation in LZTR1 (Leucin Zipper Transcription Regulator 1). Tumorigenesis in schwannomatosis responds to a somatic 5-hit/3-step mechanism resulting in a loss of function (LOF) of LZTR1 and the contiguous genes of locus 22q11.2q12.2. Effectively, LZTR1 is mapped on 22q11.2 and centromeric to SMARCB1 also implicated in the determinism of schwannomatosis and NF2, responsible for neurofibromatosis type 2. On a somatic point of view, LZTR1 mutations are known to drive with a significant frequency glioblastoma (GB) development. We report here two families in which segregate both multiple schwannomas and GB. In the first family, the proband received a diagnosis with of schwannomatosis after a surgery for a lumbar schwannoma at age 43, molecularly confirmed by identification of a germline heterozygous mutation in LZTR1. Her father, having unremarkable medical history deceased from an apparently isolated GB at age 59. In the second family, LZTR1-related schwannomatosis was diagnosed in the index case at age 70 after multiple schwannomas surgeries. Her elder sister had no neurological medical history before occurrence of a lethal GB at age 78. Molecular analysis of GB sample from both affected relatives showed the presence of the familial mutation. These observations hypothesize a potential link between schwannomatosis and the GB development

Eur J Med Genet

Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder that predisposes to the development of benign and malignant tumors. Classical skeletal abnormalities encompass sphenoid wing dysplasia, congenital bowing of the long bones and vertebral osteopathy associated with non-dystrophic or dystrophic scoliosis found in about 10% of NF1 patients. We report a 17-year-old boy affected by NF1 with extreme severe spinal and thoracic malformations affecting bone and lung tissues, including hypoplasia of the right lung, unilateral costal agenesis and severe dystrophic scoliosis characterized by association of hemivertebra, fusion of adjacent vertebral bodies and defective pedicles. At birth, he presented an acute respiratory distress requiring invasive ventilator support. The diagnosis of NF1 was confirmed at age 5 by the identification of a de novo heterozygous mutation c.4537C > T, p.Arg1513* in NF1. Trio-based Whole Exome Sequencing (WES) was performed to exclude coexistence of a second hit but no clearly other pathogenic variant has been identified. Until now, only one similar NF1 patient suffering from the same association of severe scoliosis and chest deformity leading to respiratory insufficiency was described. The severe prenatal NF1-related scoliosis could explain the lung abnormal development by absence of mechanical constraints. Severe Thoracic and Spinal Bone Abnormalities may be part of the NF1 bone phenotype and should be taken into account to allow adequate genetic counseling