Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

Tetrasomy 18p is a genetic syndrome caused by an isochromosome consisting of two copies of the short arm of chromosome 18. Clinically, pediatric cases of tetrasomy 18p manifest with global developmental delay, similar to most cases of chromosomal abnormality. In addition, it causes various symptoms including abnormal muscle tone. We report a case of an infant with global developmental delay and remarkable spasticity, the typical phenotype of bilateral spastic cerebral palsy. However, she had a subtle anomaly in her face, and brain magnetic resonance imaging (MRI) findings were inconsistent with her strong upper motor neuron signs. Upon genetic testing, she was determined to have an 18p isochromosome, confirming de novo non-mosaic tetrasomy 18p. Cerebral palsy is a neurological disorder that includes developmental delay caused by a non-progressive lesion in the developing brain. During diagnostic workup in patients with cerebral palsy, genetic testing should be considered when there are minor physical anomalies or equivocal MRI findings.

Improvement of Peak Cough Flow After the Application of a Mechanical In-exsufflator in Patients With Neuromuscular Disease and Pneumonia: A Pilot Study

OBJECTIVE: To investigate and demonstrate persistent increase of peak cough flow after mechanical in-exsufflator application, in patients with neuromuscular diseases and pneumonia. METHODS: A mechanical in-exsufflator was applied with patients in an upright or semi-upright sitting position (pressure setting, +40 and −40 cmH2O; in-exsufflation times, 2–3 and 1–2 seconds, respectively). Patients underwent five cycles, with 20–30 second intervals to prevent hyperventilation. Peak cough flow without and with assistive maneuvers, was evaluated before, and 15 and 45 minutes after mechanical in-exsufflator application. RESULTS: Peak cough flow was 92.6 L/min at baseline, and 100.4 and 100.7 L/min at 15 and 45 minutes after mechanical in-exsufflator application, respectively. Assisted peak cough flow at baseline, 15 minutes, and 45 minutes after mechanical in-exsufflator application was 170.7, 179.3, and 184.1 L/min, respectively. While peak cough flow and assisted peak cough flow increased significantly at 15 minutes after mechanical in-exsufflator application compared with baseline (p=0.030 and p=0.016), no statistical difference was observed between 15 and 45 minutes. CONCLUSION: Increased peak cough flow after mechanical in-exsufflator application persists for at least 45 minutes.

Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects

PURPOSE: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are similar genetic disorders whose patterns of mutation and disease phenotypes might be expected to show differences among different countries. We analyzed multiplex ligation-dependent probe amplification (MLPA) data in a large number of Korean patients with DMD/BMD. MATERIALS AND METHODS: We obtained 130 positive MLPA results (86 DMD, 27 BMD, and 17 female carriers) from 272 candidates (237 clinically suspected patients and 35 possible female carriers) who took part in this study. We analyzed the mutation patterns among 113 patients diagnosed by MLPA and calculated deletion/duplication percentages from a total of 128 patients, including 15 patients who were diagnosed using methods other than MLPA. We also analyzed hot spot locations among the 130 MLPA-positive results. RESULTS: Most mutations were detected in a central hot spot region between exons 44 and 55 (80 samples, 60.6%). Unlike previous reports, a second frequently observed hot spot near the 5'-end was not distinctive. MLPA detected deletions in specific exons in 92 patients with DMD/BMD (71.8%) and duplications in 21 patients (16.4%). CONCLUSION: Our MLPA study of a large number of Korean patients with DMD/BMD identified the most frequent mutation hot spot, as well as a unique hot spot pattern. DMD gene mutation patterns do not appear to show significant ethnic differences.

Long-Term Outcome of Amyotrophic Lateral Sclerosis in Korean Subjects

OBJECTIVE: To report the latest long-term outcome of amyotrophic lateral sclerosis (ALS) and to analyze the predictors of prognosis. METHODS: Subjects who were diagnosed with ALS between January 2005 and December 2009 at a single institute were followed up until death or up to December 2014. Data regarding age, sex, date of onset, date of diagnosis, presence of bulbar symptoms on onset, date of initiation of non-invasive ventilation (NIV), and the date of tracheostomy were collected. Survival was assessed using Kaplan-Meier curves and multivariate analyses of the risk of death were performed using the Cox proportional hazards model. RESULTS: Among 212 suspicious subjects, definite ALS was diagnosed in 182 subjects. The survival rate at 3 and 5 years from onset was 61.5% and 40.1%, respectively, and the survival rate at 3 and 5 years post-diagnosis was 49.5% and 24.2%, respectively. Further, 134 patients (134/182, 73.6%) were initiated on NIV, and among them, 90 patients (90/182, 49.5%) underwent tracheostomy. Male gender and onset age of ≥65 years were independent predictors of adverse survival. CONCLUSION: The analysis of long term survival in ALS showed excellent outcomes considering the overall poor prognosis of this disease.

Correlation of Serum Creatine Kinase Level With Pulmonary Function in Duchenne Muscular Dystrophy

OBJECTIVE: To investigate the relationship between serum creatine kinase (CK) level and pulmonary function in Duchenne muscular dystrophy (DMD). METHODS: A total of 202 patients with DMD admitted to the Department of Rehabilitation Medicine, Gangnam Severance Hospital were enrolled from January 1, 1999 to March 31, 2015. Seventeen patients were excluded. Data collected from the 185 patients included age, height, weight, body mass index, pulmonary function tests including forced vital capacity (FVC), peak cough flow, maximal expiratory pressure (MEP), and maximal inspiratory pressure (MIP), and laboratory measurements (serum level of CK, CK-MB, troponin-T, and B-type natriuretic peptide). FVC, MEP, and MIP were expressed as percentages of predicted normal values. RESULTS: Serum CK activities were elevated above normal levels, even in the oldest DMD group. Serum CK level was strongly correlated with pulmonary functions of sitting FVC (p<0.001), supine FVC (p<0.001), MIP (p=0.004), and MEP (p<0.001). CONCLUSION: Serum CK level is a reliable screening test even in patients with advanced DMD, and is a strong predictor of pulmonary functions.

Nutritional Status and Body Composition in Korean Myopathy Patients

In myopathy patients, fat mass increases as the disease progresses, while lean body mass decreases. The present study aimed to investigate the overall nutritional status of Korean myopathy patients through surveys of diet and dietary habits, bioelectrical impedance analysis (BIA), and biochemistry tests, as well as the examination of related factors, for the purpose of using such findings as a basis for improving the nutritional status in myopathy patients. The energy intake of all participants was found to be insufficient at only 44.5% of Dietary Reference Intakes for Koreans 2010 (KDRIs 2010), whereas protein intake was sufficient at 89.8% of KDRIs 2010. Dietary fiber intake was found to be 58.4% of sufficient dietary fiber intake for adults according to KDRIs 2010. Calcium intake was found to be 55.0% and magnesium was 14.9% of the recommended calcium and magnesium intake for adults according to KDRIs 2010. With respect to quality of life (QOL), overall increase in QOL domain score showed significant positive correlations with vegetable fat intake (p < 0.05), vegetable protein intake (p< 0.05), and dietary fiber intake (p < 0.05). With respect to BIA, the mean phage angle of all participants was found to be 2.49 +/- 0.93degrees, which was below the cutoff value. As a study that examined nutrient analysis and dietary habits of myopathy patients in Korea, the present study is meaningful in providing the basic data for future studies that aim to present dietary guidelines for patients suffering from myopathy.

Ultrasound-Guided Myofascial Trigger Point Injection Into Brachialis Muscle for Rotator Cuff Disease Patients With Upper Arm Pain: A Pilot Study

OBJECTIVE: To assess the efficacy of trigger point injection into brachialis muscle for rotator cuff disease patients with upper arm pain. METHODS: A prospective, randomized, and single-blinded clinical pilot trial was performed at university rehabilitation hospital. Twenty-one patients clinically diagnosed with rotator cuff disease suspected of having brachialis myofascial pain syndrome (MPS) were randomly allocated into two groups. Effect of ultrasound (US)-guided trigger point injection (n=11) and oral non-steroidal anti-inflammatory drug (NSAID) (n=10) was compared by visual analog scale (VAS). RESULTS: US-guided trigger point injection of brachialis muscle resulted in excellent outcome compared to the oral NSAID group. Mean VAS scores decreased significantly after 2 weeks of treatment compared to the baseline in both groups (7.3 vs. 4.5 in the injection group and 7.4 vs. 5.9 in the oral group). The decrease of the VAS score caused by injection (capital DE, CyrillicVAS=-2.8) was significantly larger than caused by oral NSAID (capital DE, CyrillicVAS=-1.5) (p<0.05). CONCLUSION: In patients with rotator cuff disease, US-guided trigger point injection of the brachialis muscle is safe and effective for both diagnosis and treatment when the cause of pain is suspected to be originated from the muscle.