Cervanteslohse4242

In this toddler, delayed symptoms appeared with unilateral involvement. While an occipital fracture was ruled out, neuroimaging findings suggest the hypothesis of a focal contusion as a consequence of a

injury.

 This exceptional case highlights the importance of gathering physical examination, anatomical correlation, and neuroimaging to yield a diagnosis.

 This exceptional case highlights the importance of gathering physical examination, anatomical correlation, and neuroimaging to yield a diagnosis.

 Multifocal motor neuropathy (MMN) is a slowly progressive motor neuropathy characterized by asymmetric muscle weakness without sensory involvement. Typically, MMN respond completely to treatment with intravenous immunoglobulin (IVIg). MMN is even rarer in the pediatric population, where only five patients have been reported up to now.

 We discuss the 3-year follow-up of a 13-year-old girl with MMN who was positive for IgM antibodies to gangliosides GM1. She was diagnosed with MMN in accordance with the European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) criteria. Serological studies revealed that she tested positive for IgM antibodies to GM1. She underwent intravenous methylprednisolone followed by an oral prednisone taper, intravenous immunoglobulin (IVIg), plasma exchange followed by IVIG and prednisone and Rituximab. No improvement was referred. At the present, she shows flaccid tetraplegia, facial diplegia, and bulbar cranial nerve palsy.

 Although childhood onset MMN is rare, most patients reported in literature respond to IVIg treatment. In a few cases, however, IVIg can be ineffective. In our patient, IVIg as well as treatment with prednisolone, plasma exchange and rituximab have failed.

 Although childhood onset MMN is rare, most patients reported in literature respond to IVIg treatment. In a few cases, however, IVIg can be ineffective. In our patient, IVIg as well as treatment with prednisolone, plasma exchange and rituximab have failed.

 Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel

gene variant in a pediatric patient and two affected relatives.

 Whole exome sequencing was applied after a thorough clinical and neurological examination of the index patient and her family members. Results of neuropsychological testing were analyzed.

 Whole exome sequencing revealed a novel homozygous missense variant in the

gene [c.182C>T p.(Ala61Val)] in our pediatric patient and the two affected family members. Clinically, the cases presented with dystonia, dysarthria, and jerky movements. We observed a particular cognitive profile with executive dysfunctions in our patient, which corresponds to the cognitive deficits that have been observed in the patients previously described.

 We present a novel genetic variant of the

gene associated with autosomal recessive dystonia in a child with childhood-onset dystonia supporting its clinical features. Furthermore, we propose specific

-related cognitive changes in homozygous carriers, underlining the importance of undertaking a systematic assessment of cognition in

-related dystonia.

 We present a novel genetic variant of the HPCA gene associated with autosomal recessive dystonia in a child with childhood-onset dystonia supporting its clinical features. Furthermore, we propose specific HPCA-related cognitive changes in homozygous carriers, underlining the importance of undertaking a systematic assessment of cognition in HPCA-related dystonia.

 Cerebral palsy (CP) is the most common motor impairment in childhood and often accompanied by a broad spectrum of comorbidities. Data are sparse concerning visual impairment (VI) and functional classification among CP children.

 The objective of this study was to analyze the prevalence of VI among children with CP and to investigate a possible association between VI and Gross Motor Function Classification System (GMFCS) and the Bimanual Fine Motor Function (BFMF).

 In this hospital-based study, records of 200 children with CP aged 2 to 17 years were reviewed.

 Overall, VI was found in 59.5% of children with CP. Prevalence of VI was higher when compared with non-CP children. A correlation between GMFCS as well as BFMF and severity of VI was found. Children with severe CP were at greater risk for severe VI, especially cerebral VI compared with children with mild CP.

 VI is a significant problem in children with CP and is correlated with motor function. Children with CP should undergo detailed ophthalmologic and orthoptic assessment to enable early intervention.

 VI is a significant problem in children with CP and is correlated with motor function. Children with CP should undergo detailed ophthalmologic and orthoptic assessment to enable early intervention.The purpose of this multicenter, retrospective, observational study was to investigate the association between intraoperative component positioning and soft tissue balancing, as reported by robotic technology for a cohort of patients who received robotic arm-assisted lateral unicompartmental knee arthroplasty (UKA) as well as short-term clinical follow-up of these patients. Between 2013 and 2016, 78 patients (79 knees) underwent robotic arm-assisted lateral UKAs at two centers. Pre- and postoperatively, patients were administered the Knee Injury and Osteoarthritis Score (KOOS) and the Forgotten Joint Score-12 (FJS-12). Clinical results were dichotomized based upon KOOS and FJS-12 scores into either excellent or fair outcome, considering excellent KOOS and FJS-12 to be greater than or equal to 90. Intraoperative, postimplantation robotic data relative to computed tomography-based components placement were collected and classified. Following exclusions and loss to follow-up, a total of 74 subjects (75 knees) who received robotic arm-assisted lateral UKAs were taken into account with an average follow-up of 36.3 months (range 25.0-54.2 months) postoperative. Of these, 66 patients (67 knees) were included in the clinical outcome analysis. All postoperative clinical scores showed significant improvement compared with the preoperative evaluation. No association was reported between three-dimensional component positioning and soft tissue balancing throughout knee range of motion with overall KOOS, KOOS subscales, and FJS-12 scores. Lateral UKA three-dimensional placement does not seem to affect short-term clinical performance. GPR84 antagonist 8 However, precise boundaries for lateral UKA positioning and balancing should be taken into account. Robotic assistance allows surgeons to acquire real-time information regarding implant alignment and soft tissue balancing.