Möbius Syndrome Demonstrated by the High-Resolution MR Imaging: a Case Report and Review of Literature

Möbius syndrome is a rare congenital condition, characterized by abducens and facial nerve palsy, resulting in limitation of lateral gaze movement and facial diplegia. However, to our knowledge, there have been few studies on evaluation of cranial nerves, on MR imaging in Möbius syndrome. Herein, we describe a rare case of Möbius syndrome representing limitation of lateral gaze, and weakness of facial expression, since the neonatal period. In this case, high-resolution MR imaging played a key role in diagnosing Möbius syndrome, by direct visualization of corresponding cranial nerves abnormalities.

Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report

Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Sonographic examination revealed hypoechoic, swollen peripheral nerves with enlarged bilateral Achilles tendons. Since the ultrasonographic findings revealed peripheral involvement, the diagnosis of cerebrotendinous xanthomatosis was established after laboratory and genetic studies along with clinical findings.

Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report

Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provides not only sequence variation data but also clinical interpretation, aids in reaching a final conclusion with regards to genetic diagnosis. Sequencing of genes with clinical relevance rather than whole exome sequencing might be more suitable for the diagnosis of known hereditary disease with genetic heterogeneity. Here, we present the clinical usefulness of CES for the diagnosis of hereditary spastic paraplegia (HSP). We report a case of patient who was strongly suspected of having HSP based on her clinical manifestations. HSP is one of the diseases with high genetic heterogeneity, the 72 different loci and 59 discovered genes identified so far. Therefore, traditional approach for diagnosis of HSP with genetic analysis is very challenging and time-consuming. CES with TruSight One Sequencing Panel, which enriches about 4,800 genes with clinical relevance, revealed compound heterozygous mutations in SPG11. One workflow and one procedure can provide the results of genetic analysis, and CES with enrichment of clinically relevant genes is a cost-effective and time-saving diagnostic tool for diseases with genetic heterogeneity, including HSP.

Influence of Hyperlipidemia on the Treatment of Supraspinatus Tendinopathy With or Without Tear

OBJECTIVE: To investigate the influence of hyperlipidemia on the treatment of supraspinatus tendinopathy, with or without tear. METHODS: We retrospectively reviewed the data of patients with shoulder pain and patients with supraspinatus tendinopathy, with or without tear, were included in the study. Exclusion criteria were prior shoulder surgery, prior steroid injection, neurological diseases that could lead to shoulder pain, and use of lipid-lowering medication. According to the serum lipid profiles, patients were assigned to either the hyperlipidemia or non-hyperlipidemia group. By analyzing the numeric rating scale (NRS) before treatment, and at 2 weeks and 8 weeks after treatment, we compared the difference in treatment effect between the two groups. RESULTS: No significant baseline difference was found among the two groups for age, gender, body mass index, duration of pain, side of pain, range of motion of affected shoulder, or physical examination. On the repeated-measures analysis of variance, NRS scores significantly decreased with time for both groups (p<0.001). When analyzing the effect of time between the subjects factor, there was significant difference in the treatment effect between the two groups (p<0.001), namely NRS was less decreased in the hyperlipidemia group. CONCLUSION: We found that hyperlipidemia may be an adversely affecting factor in the treatment of supraspinatus tendinopathy with or without tear.

Seizure Scoring System and Neurodevelopmental Outcomes in Very Low Birth Weight Infants with Neonatal Seizures

PURPOSE: To evaluate the utility of seizure scoring system in the prediction of neurodevelopmental outcomes in very low birth weight (VLBW) infants who presented with neonatal seizures. METHODS: A retrospective review was performed in VLBW infants who were treated with antiepileptic drugs (AED) for the control of neonatal seizures. A total of 25 infants who survived and were followed-up for at least 2 years of age were included. A new seizure scoring system (the composite score 0-8) was constructed by choosing the following variables: onset, response to the AED, presence of status epilepticus, seizure types and EEG findings including background activity and epileptiform discharges. Neurodevelopmental outcomes were graded from 1 to 5 based on the developmental status and the neurologic abnormalities assessed at 18 to 24 months of postconceptional age. Risk factor analyses for predicting unfavorable outcomes (grade 3-5) versus favorable outcomes (grade 1-2) were performed. RESULTS: Compared to favorable outcome group (n=11), unfavorable outcome group (n=14) had higher incidence of subtle or generalized tonic-type seizures, the abnormal EEG background activity and poor response to AED. The composite seizure score was significantly higher in the unfavorable outcome group (3.2+/-0.7) than in the favorable outcome group (1.2+/-1.2) and it significantly correlated with the neurodevelopmental grading (P<0.001). In multivariate analysis, abnormal MRI findings at term and the composite seizure score were significant risk factors for unfavorable outcomes. CONCLUSION: In VLBW infants with neonatal seizure, the proposed seizure scoring system was a simple and useful predictor of long-term neurologic outcomes.