Challenges of caring for a patient with a rare disease--as demonstrated by Cornelia de Lange Syndrome.

There are over 12,500 diseases defined by European researchers as rare disorders occurring in less than 1:2000 live births. The majority of these manifest in childhood. The clinical picture of a rare disorder is dominated by intellectual disability of various severity and organ defects. Targeted therapy is not available for the majority of rare disorders, therefore multidisciplinary patient care is the only means of improving the quality and duration of the patient's life. In this paper, the authors share their experience organizing a system of care for patients with Cornelia de Lange Syndrome. Over the last 13 years, multidisciplinary diagnostics and consultations were provided to 92 patients and their families, including rehabilitation and psychological support. The model suggested here demonstrates a shorter diagnostic process, continuous contact with the patient, his/her family and pediatrician. Guidelines and recommendations regarding the particular rare disease should be published.

Scoliosis in patients with aortic coarctation and patent ductus arteriosus: does standard posterolateral thoracotomy play a role in the development of the lateral curve of the spine?

The aim of this study was to determine the influence of lateral thoracotomy on the development of scoliosis in subjects undergoing repair of coarctation of the aorta (CoA) and patent ductus arteriosus (PDA). A group of 133 patients with CoA and PDA was evaluated. Forty-five patients with CoA and 38 with PDA underwent surgery using standard posterolateral thoracotomy (operative group), whereas 12 patients with CoA and 31 with PDA were treated using balloon dilatation and stent or coil implantation (nonoperative group). A spinal examination, together with the evaluation of chest and spinal roentgenograms, was conducted. Among the operated patients, 62% of those with CoA and 55% of those with PDA had clinical scoliosis. In the nonoperated patients, scoliosis was present in only 25% of those with CoA and 16% of those with PDA. Scoliosis ranged between 10 degrees and 42 degrees . In 89% of the operated patients with CoA and 76% of those with PDA the curve was thoracic; in 46% of the CoA group and 57% of the PDA group the curve was left-sided. All curves were right-sided in nonoperated subjects. Scoliosis in the operated group was higher in male than in female subjects (63% vs. 60% in CoA and 86% vs. 37% in PDA). The prevalence of scoliosis after standard posterolateral thoracotomy was significantly higher than after nonsurgical treatment methods in the CoA and PDA groups as well as in the general population. The rate of single thoracic and the rate of left-sided thoracic curves in patients after thoracotomy is higher than in nonoperated patients or in those with idiopathic scoliosis. The rate of scoliosis after thoracotomy is higher in male than female patients, especially after thoracotomy for PDA.

[Isolated left ventricular non-compaction - various clinical presentations]. / Izolowany niescalony miesien lewej komory - rózne oblicza kliniczne.

The isolated left ventricular non-compaction (LVNC) is an increasingly commonly diagnosed myocardial disorder resulting from a defective morphogenesis of the endomyocardium. This is associated with high rates of thromboembolism, cardiac failure, and cardiac arrhythmia. The report describes 3 cases of LVNC, presenting with different clinical pictures.

Cardiac tumors in children: A 20-year review of clinical presentation, diagnostics and treatment.

BACKGROUND: The use of new imaging techniques has contributed significantly to earlier diagnosis and treatment of cardiac tumors. OBJECTIVES: The aim of the study was to analyze data from children with cardiac tumors in terms of clinical presentation, the role of noninvasive diagnostic procedures and the long-term outcome. MATERIAL AND METHODS: The data analyzed retrospectively concerned 30 children in whom cardiac tumors were diagnosed from January 1995 to July 2015. The cardiac evaluation included a review of the subjects' medical records and medical history, a physical examination, standard 12-lead electrocardiography, echocardiography and 24-h Holter ECG monitoring at the time of diagnosis and at 6-12 month intervals during the follow-up at the authors' outpatient clinic. RESULTS: Most of the children did not need cardiac surgery; surgical tumor excision was necessary in 3 cases only. There was 1 death in the follow-up period. Rhabdomyoma was diagnosed in 22 cases, and in 16 of them tuberous sclerosis was confirmed during the follow-up period. In the remaining 8 cases, fibroma was the most likely diagnosis. CONCLUSIONS: The symptomatology of cardiac tumors in children can vary greatly, from the absence of any symptoms up to heart failure and respiratory distress indicating the need for surgical intervention. The diagnosis of cardiac tumors relies almost exclusively on noninvasive imaging techniques. The observations in this study confirm the fact that the most common cardiac tumor in children is rhabdomyoma, which may disappear spontaneously. Most patients with cardiac tumors do not require treatment.

[Cardiovascular malformations in Turner syndrome]. / Wady ukladu sercowo-naczyniowego w zespole Turnera.

BACKGROUND: A literature review indicates that the prevalence of cardiovascular malformations in patients with Turner syndrome ranges from 17 to 47 percent. OBJECTIVES: The aim of the study was to evaluate the cardiovascular system in patients with Turner syndrome, controlled by the Pediatric Endocrinology Clinic of the Medical University of Gdansk. MATERIAL AND METHODS: The study included 55 females with Turner syndrome aged 3-20 years (mean age 9.6 years). The procedure included an interview, subject examination, chest X-rays and echocardiography. The echocardiography included M-mode measurements, two-dimensional evaluations from all standard planes, pulsed and continuous wave Doppler as well as color flow mapping. In selected cases, cardiologic examination embraced also cardiac catheterization, cineangiography and continuous 24-hour blood pressure measurement. RESULTS: Cardiovascular malformations were found in 18 out of 55 females (32.7%). Aortic coarctation was detected in 9 out of 18 patients (50%), bicuspid aortic valve in 33%, and aortic insufficiency in 22% of them. 78% of Turner subjects with cardiovascular malformations had monosomy (45,X). All females, except one, with aortic coarctation, had a 45,X karyotype. One aortic coarctation was diagnosed during prenatal examination. Before the last medical examination, 9 females had undergone a surgical treatment. In one case, the surgical treatment was preceded by a balloon angioplasty. Due to a recoarctation, one female was submitted to an additional balloon angioplasty. One female died during the post surgical period suffering from aortic wall injury. In four cases, despite successful surgeries, there still remains an arterial hypertension requiring pharmacological treatment. In 4 out of 18 cases (22%) isolated aortic valves defects were diagnosed, however, at present time they do not require any surgical treatment. In three cases, echocardiographic examination indicated a persistent left superior vena cava and aneurysm atrial septal defect with an intact septum. CONCLUSIONS: Due to a high prevalence of cardiovascular malformations, girls with Turner syndrome should be monitored by a pediatric cardiologist. In each case, female with Turner syndrome should be submitted to echocardiography. Also a careful control of the blood pressure is indicated.

[Aortic coarctation treated with bypass graft in adolescence and implantation of intravascular stent 12 years later--a case report]. / Koarktacja aorty leczona graftem omijajacym a nastepnie implantacja stentu wewnatrznaczyniowego.

A case of a 26-year-old female with aortic coarctation and Recklinghausen disease is presented. At the age of 14 years the patient underwent thoracic aortic bypass grafting. Twelve years later she developed arterial hypertension. Spiral computerised tomography revealed patent graft and invasive hemodynamical measurements showed a gradient of 30 mmHg. The patient underwent successful intravascular stent implantation.

[Epidemiology of hypertensive retinopathy in young patients after coarctation of the aorta repair]. / Epidemiologia retinopatii nadcisnieniowej u mlodych pacjentów po leczeniu koarktacji aorty.

PURPOSE: Coarctation of the aorta is a cause of childhood hypertension. In some patients hypertension persists after coarctation repair. We evaluated hypertensive retinopathy in patients after coarctation repair, factors correlated with retinopathy, specificity of retinal findings. MATERIAL AND METHODS: 54 patients (mean age of surgery 6 years, mean follow-up time 10 years), were studied. Hypertension was present in all subjects prior to operation. We used ambulatory blood pressure monitoring (ABPM) to follow blood pressure evaluation after repair. Direct ophtalmoscopy was performed in all subjects. RESULTS: Subjects were divided into two groups according to current blood pressure values: group I--normotensive--34 pts, group II--hypertensive--20 pts. Hypertensive angiopathy (I-II K-W) was found in 30% patients (9% in group I and 65% in group II). Subjects with angiopathy were mean 7 years older and had higher blood pressure values (24h mean systolic and load), than those without retinal changes. Patients with and without angiopathy did not differ significantly in preoperative blood pressure values. 81% subjects with angiopathy were hypertensive and 86% patients without retinal changes were normotensive. The most common fundus pathologies were arteriolar tortuosity (35%) and narrowing (28%). CONCLUSIONS: 1. There were no signs of persistent angiopathy in most normotensive patients, even though all of them suffered from hypertension in childhood. 2. In our study hypertensive angiopathy corresponded with present blood pressure values and patient's age. 3. All abnormalities were mild (I-II degree K-W), which also caused some diagnostic difficulties to distinguish between normal and pathological subjects.

[Hemitruncus arteriosus - a rare cause of pulmonary hypertension]. / Hemitruncus arteriosus - rzadka przyczyna nadcisnienia plucnego.

A case of a rare congenital anomaly--hemitruncus arteriosus, in a two month old infant is presented. Diagnosis and treatment of this condition are discussed.

[The effect of lateral thoracotomy on the development of scoliosis in patients with patent ductus arteriosus]. / Wplyw torakotomii bocznej na rozwój skrzywien bocznych kregoslupa u pacjentów z przetrwalym przewodem Botala.

INTRODUCTION: Surgery, particularly thoracotomy in the thoracic area in infancy has been implicated in the development of scoliosis of thoracogenic origin. The aim of this study was to determine the influence of lateral thoracotomy on scoliosis development in subjects with patent ductus arteriosus. MATERIAL AND METHODS: A group of 69 patients with patent ductus arteriosus was evaluated. 38 patients were operated using left lateral thoracotomy and 31 patients were treated non-operatively using intravascular coil implantation. A spinal examination together with the evaluation of spinal roentgenograms was conducted. RESULTS: There was clinical scoliosis in 55% of operated, in 16% of non-operated patients. Scoliosis ranged between 10 and 42 degrees. 76% of operated patients with scoliosis had thoracic curves and in 57% of them left sided curves were found. All curves were right sided in non-operated subjects. Scoliosis in the operated group occurred in 68% of males and in 37% of females. CONCLUSIONS: Prevalence of scoliosis after thoracotomy was significantly higher than in the average population and after non-surgical methods of treatment of patent ductus arteriosus. The rate of single thoracic and the rate of left thoracic curves in patients after thoracotomy is higher than the rate in non-operated patients and in idiopathic scoliosis. Female to male ratio with scoliosis and after thoracotomy is significantly lower than in idiopathic scoliosis.

Is chest sonography a breakthrough in diagnosis of pulmonary thromboembolism in children?

OBJECTIVE: Sonographic criteria of pulmonary thromboembolism (PTE) have been already evaluated basing on adult patients. There are limited studies to determine diagnostic value of chest ultrasound (CUS) in pediatric PTE. The aim of our study was to present usefulness of ultrasound examination of chest in diagnosis of PTE in children. MATERIAL AND METHODS: We present results of chest ultrasound examinations of six children: three teenagers--13-year-old boy treated for primary antyphospholipid syndrome, 14-year-old boy with Wegeners' granuloma, and 15-year-old girl with urosepsis--where sonographic results were compared to CT results, and three newborns with congenital heart disease--two boys treated for hypoplastic left heart syndrome (HLHS) and one for duct-dependent coarctation of the aorta (CoA, PDA). Because of severe clinical condition of the newborns, other imaging tests could not be performed. Ultrasound examination was performed as bedside emergency examination using GE Logic 500 with linear probe 8.2-11.0 MHz. RESULTS: In all cases suggestion of PTE was based on ultrasound examination. Sonograms showed: bilateral, peripheral, subpleural, hypoechoic, triangular and oval lesions, accompanied by pleural effusion. In all three teenagers the diagnosis of PTE was confirmed by CT. CONCLUSIONS: Bedside chest ultrasound examination is especially useful in children with high risk of PTE and in critical general condition. In newborns in severe general condition ultrasound examination of chest should be first imaging test for PTE. It is significant to set on a multicenter study to evaluate the diagnostic value of chest ultrasound in diagnosis of PTE in children.

[Cardio-vascular disorders at the time of diagnosis of malignant solid tumours in children--own experiences]. / Zaburzenia ukladu sercowo-naczyniowego w momencie rozpoznania zlosliwych nowotworów litych u dzieci--doswiadczenia wlasne.

UNLABELLED: Cardio-vascular abnormalities in children with neoplastic disease are observed in some cases even during initial diagnostic examinations. The aim of the study was to evaluate the frequency and characteristics of cardiological and vascular disorders in the initial phase of malignant solid tumors in children. MATERIAL AND METHODS: The study included 236 paediatric patients diagnosed with malignant solid tumours, treated in the Department of Paediatrics, Haematology, Oncology and Endocrinology, Medical University of Gdank, between 1992 and 2004. Disorders of the myocardium and pericardium as well as abnormalities in vein blood flow were identified. Diagnostic examinations comprised. electrocardiography, echocardiography, chest X-ray, computed tomography and magnetic resonance imaging. Angiography was performed in selected cases. RESULTS: Abnormalities of the heart and vessels were detected in 35 children (15%). Most of them (83%) were associated, directly or indirectly, with neoplastic growth. High frequency of pericardial effusion was detected (16 patients). Cardiologic emergency requiring immediate cardiosurgical intervention,occurred in two children with neoplasms infiltrating myocardium and/or pericardium. Abnormal vein circulation presented as vena cava superior and vena cava inferior syndromes in ten children. Cardio-vascular disorders not associated with neoplastic disease (congenital heart and vessel defects, pancarditis) were observed as rare conditions (2,5%) but in most cases resulted in delay in starting chemotherapy and modification of the treatment scheme. Cardio-vascular abnormalities associated with neoplastic growth tended to disappear during active chemo- and radiotherapy. CONCLUSIONS: The results of the study confirm that cardio-vascular abnormalities in children with cancer before therapy institution, are not infrequent. They may be life-threatening and influence the course and outcome of therapy. These observations imply the necessity of cooperation between the paediatric oncologist, cardiologist and radiologist during the initial diagnostics of malignant solid tumours in children.