Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA / 中华儿科杂志

Objective: To analyze the clinical characteristics of patients with Mucopolysaccharidosis ⅣA (MPS ⅣA). Methods: A retrospective study was conducted on 111 patients with MPS ⅣA in Xinhua Hospital of Shanghai Jiao Tong University School of Medcine from December 2008 to August 2020, confirmed by enzyme activity and genetic testing. General situation, clinical manifestations and enzyme activity test results were analyzed. According to the clinical manifestations, it can be divided into severe, intermediate and mild group. The independent sample t test was used to compare the birth body length and weight of children with that of normal boys and girls, and group comparisons of enzyme activities were evaluated by median test. Results: One hundred and eleven unrelated patients, 69 males and 42 females, were classified into 3 subtypes: severe (n=85), intermediate (n=14), and mild (n=12). The age at symptom onset were 1.6 (1.0, 3.0) years, and at diagnosis were 4.3 (2.8, 7.8) years. Skeletal manifestations were observed in all patients and consisted mainly of pectus carinatum (96/111, 86.5%), motor dysfunction (78/111, 70.3%), spinal deformity (71/111, 64.0%), growth retardation (64/111, 57.7%), joint laxity (63/111, 56.8%) and genu valgum (62/111, 55.9%). Eighty-eight patients (88/111, 79.3%) with MPS ⅣA were also along with non-skeletal manifestations, mainly including snoring (38/111, 34.2%), coarse faces (34/111, 30.6%), and visual impairment (26/111, 23.4%). The most common skeletal manifestation was pectus carinatum (79 cases), and non-skeletal manifestation was snoring (30 cases) and coarse faces (30 cases) in severe patients, pectus carinatum (13 cases) and snoring (5 cases) in intermediate type, motor dysfunction (11 cases) and snoring (3 cases) and visual impairment (3 cases) in mild patients. The height and weight of severe patients began to fall below -2 s at 2-<5 years and 5-<7 years, respectively. At the age of 10-<15 years, the standard deviation score of the height of severe patients reached (-6.2±1.6) s in males and (-6.4±1.2) s in females, and the score of weight got (-3.0±1.1) s in males and (-3.5±0.5) s in females. The height of intermediate patients began to fall below -2 s at the age of 7-<10 years, and the standard deviation score of height were -4.6 s and -3.6 s in 2 males, and -4.6 s and -3.8 s in 2 females at the age of 10-<15 years. The weight remained within -2 s in 72.0% (18/25) of intermediate patients compared to age-matched healthy children. In the mild patients with MPS ⅣA, the mean standard deviation score of height and weight was within -2 s. The enzyme activities of mild patients (2.02 (1.05, 8.20) nmol/(17 h·mg)) were both significantly higher than that of intermediate (0.57 (0.47, 0.94) nmol/(17 h·mg)) and severe (0.22 (0, 0.59) nmol/(17 h·mg)) patients (Z=9.91, 13.98, P=0.005, 0.001), and the enzyme activity of intermediate patients was significantly higher than that of severe patients (Z=8.56, P=0.010). Conclusions: The clinical manifestations of MPS ⅣA are charactered by pectus carinatum, motor function impairment, spinal deformity and growth retardation. The clinical characteristics, growth rate and enzyme activity differ among the 3 subtypes of MPS ⅣA.

Deformidad de la caja torácica / Chest wall deformity

Resumen Las deformidades de la caja torácica se pueden dividir en dos tipos, las que son productos del desarrollo anormal del pecho en el crecimiento y las congénitas que son las secundarias a una malformación estructural del pecho evidente en el nacimiento. Las malformaciones del desarrollo son las más comunes, como por ejemplo pectus excavatum o pectun carinatum. Las menos comunes son las de tipo congénito: síndrome de Poland, displasia espondilotorácica, displasia espondilocostal, síndrome de Jeune y los defectos de la costilla o el esternón. Las deformidades del pecho de tipo congénita se caracterizan por afectar la relación entre la columna vertebral, la caja torácica y los pulmones. La mayoría de estos pacientes desarrollan un disturbio respiratorio progresivo de tipo restrictivo conocido como Síndrome de Insuficiencia Torácica. Este síndrome se define como la deficiencia de la caja torácica para mantener una respiración normal y sostener el crecimiento fisiológico del pulmón. En este artículo discutiremos varias condiciones que afectan el desarrollo y función de la caja torácica.

Chest wall deformities are divided as an abnormal development during the growth or those secondary to a congenital malformation. The developmental type is the most common: pectus excavatum or pectus carinatum. The less common are the congenital types of chest wall abnormalities: Poland's syndrome, Jeune's syndrome, espondylothoracic dysplasia, espondylocostal dysplasia and defects of the ribs or sternum. The congenital type usually affects the relationship between the spine, rib cage and the lungs. Therefore, many of these patients will develop a progressive respiratory disturbance of restrictive type known as Thoracic Insufficiency Syndrome. Thoracic insufficiency syndrome is defining as a deficiency of the rib cage to maintain a normal respiration and to sustain the physiological growth of the lungs. In this article will discuss several conditions that will affect the development and function of the chest wall.

Use of an Optical Scanning Device to Monitor the Progress of Noninvasive Treatments for Chest Wall Deformity: A Pilot Study

BACKGROUND: The nonsurgical treatment of chest wall deformity by a vacuum bell or external brace is gradual, with correction taking place over months. Monitoring the progress of nonsurgical treatment of chest wall deformity has relied on the ancient methods of measuring the depth of the excavatum and the protrusion of the carinatum. Patients, who are often adolescent, may become discouraged and abandon treatment. METHODS: Optical scanning was utilized before and after the intervention to assess the effectiveness of treatment. The device measured the change in chest shape at each visit. In this pilot study, patients were included if they were willing to undergo scanning before and after treatment. Both surgical and nonsurgical treatment results were assessed. RESULTS: Scanning was successful in 7 patients. Optical scanning allowed a visually clear, precise assessment of treatment, whether by operation, vacuum bell (for pectus excavatum), or external compression brace (for pectus carinatum). Millimeter-scale differences were identified and presented graphically to patients and families. CONCLUSION: Optical scanning with the digital subtraction of images obtained months apart allows a comparison of chest shape before and after treatment. For nonsurgical, gradual methods, this allows the patient to more easily appreciate progress. We speculate that this will increase adherence to these methods in adolescent patients.

A Case of Successful Surgical Repair for Pectus Arcuatum Using Chondrosternoplasty

Pectus arcuatum is a rare complex chest wall deformity. A 31-year-old female presented with a severely protruding upper sternum combined with a concave lower sternum. We planned a modified Ravitch-type operation. Through vertical mid-sternal incision, chondrectomies were performed from the second to fifth costal cartilages, saving the perichondrium. Horizontal osteotomy was performed in a wedge shape on the most protruding point, and followed by an additional partial osteotomy at the most concaved point. The harvested wedge-shape bone fragments were minced and re-implanted to the latter osteotomy site. The osteotomized sternum was fixed with multiple wirings. With chondrosternoplasty, a complex chest wall deformity can be corrected successfully.

Frequency of anomalies associated with chest deformity in physically fit male candidates reporting for military recruitment

To identify the frequency of anomalies associated with chest deformity in physical fit male candidates reporting for military recruitment. Observational. Department of Thoracic Surgery, CMH Rawalpindi from 1[st] Jan 2008 to 31 Dec 2011. Normal healthy physically fit young adolescents being recruited for army were scrolled and those exhibiting chest deformity were isolated and subjected to evaluation. Convenience sampling was carried out. All cadidates of chest wall deformity thereafter underwent a thorough physical checkup, pulmonary function tests and echocardiography. A total of 3735 candidates of chest deformity reported at our center for evaluation over this duration. Single deformity patients 3380 [90.5%], mixed deformity patients 355 [95%]. We found that none of the candidates had any derangement of the lung function tests or electrocardiographic abnormality despite their deformity. However echocardiography detected an abnormality in 161 [4.3%] individuals who were otherwise asymptomatic. Chest deformity should be excluded before physical tests, in all the male candidates reporting for enrolment. If slightest of doubt exists that a candidate has chest deformity then he should be evaluated with echocardiography to exclude cardiac abnormality. Although the associated frequency is only 4.3% but this can subsequently result in a grave event like death

experience of corrective surgery of 37 cases of chest deformity

The study was carried out to ascertain the cosmetic outcome of corrective surgery for pectus deformity and to determine the morbidity associated with it. Quasi-experimental study. The study conducted in CMH Rawalpindi and CMH Quetta from 2007 to 2012. Total number of cases operated for chest deformity was 37. Modified Welch procedure with sub perichondrial resection was done with a strut of prolene mesh in a majority of exacavatum repairs and k wires in few. Pectoroplasty was subsequently carried out in all patients. Midline incision was made in a majority of patients. Subjmammary incision was made in some female patients with a lower deformity due to better cosmetic outcome. Inclusion criterion was patients with chest deformity without any cardiac and spinal deformity. Age range was between 4 years to 12 years with mean age of 8 +/- 2.3 years. twenty four [65%] deformities were of excavatum and 9 [24%] were of carinatum type. Four [11%] cases were of unilateral asymmetrical deformity. Mean operating time was 95 +/- 11 minutes. Transfusion was required in only 1 [3%] o the cases. There was no perioperative mortality. Four [11%] patients had formation of seroma and 3 [8%] developed pneumothorax which was aspirated without placement of chest tube. Two [5%] had surgical site infection. Fifteen [41%] patients were satisfied and 21 [57%] reported excellent results. Chest deformity correction is safe and effective procedure with acceptable cosmetic results. It is easy to perform and improves self image of the suffering individual