Lafora disease: a case report.

BACKGROUND: Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized by Lafora bodies in tissues such as brain, skin, muscle, and liver. CASE PRESENTATION: We report a rare case of Lafora disease in a 16-year-old Albanian girl who presented at a tertiary health care center with generalized tonic-clonic seizures, eyelid twitches, hallucinations, headache, and cognitive dysfunction. She was initially treated for generalized epilepsy and received an antiepileptic drug. However, owing to resistance of seizures to this antiepileptic drug, a second drug was introduced. However, seizures continued despite compliance with therapy, and general neurological status began to deteriorate. The child began to have hallucinations and decline of cognitive function. She developed dysarthria and unsteady gait. When admitted to the hospital, blood tests and imaging examinations were planned. The blood tests were unremarkable. There was no relevant family history and no consanguinity. Electroencephalography showed multifocal discharges in both hemispheres, and brain magnetic resonance imaging revealed no abnormality. Axillary skin biopsy revealed inclusion bodies in apocrine glands. Consequently, the child was referred to an advanced center for genetic testing, which also confirmed diagnosis of Lafora disease with a positive mutation on NHLRC1 gene. CONCLUSIONS:  Even though rare as a condition, Lafora disease should be considered on differential diagnosis in progressive and drug-refractory epilepsy in adolescents, especially when followed by cognitive decline.

Clinical manifestation and outcomes of children with hypertrophic cardiomyopathy in Kosovo.

BACKGROUND AND OBJECTIVES: Identification of the manifestations, assessment and follow up of children with hypertrophic cardiomyopathy (HCM) by transthoracic echocardiography may be important for clinical management and our understanding of pathogenesis. METHODS: We present a comprehensive analysis of 43 children seen in Kosovo, 23 were male, aged between 4 months and 9 years at first presentation (median of 2 years and 3 months). RESULTS: Cardiac failure, seen in almost half of them, was the most common presenting feature. At admission, the chest x-ray revealed an increased cardiothoracic ratio, to a mean of 72% in 6 infants and to 65% in 37 older children. Measured by transthoracic echocardiography, 28 children had asymmetric hypertrophy of left ventricle while 15 had concentric hypertrophy. Left ventricular ejection fraction was depressed in 21 children. Patients with cardiac failure received various combinations of diuretics, B-blockers, ACE inhibitors and anticoagulant therapy (aspirin). Death occurred in 8 children, in 4 of them shortly after admission, the other 4 left Kosovo and continued examination and treatment abroad Kosovo; their death has been confirmed by family members. The remaining 32 were followed- up for a mean 42 months, with a range from 5 to 115 months. Surgical intervention was not performed to any of them, despite the clinical and echocardiography indications due to a limitation of resources. Recovery was noted in 14 children but still requiring anti-heart failure medications. Slightly over two-fifths died. Of those with asymmetric form, 45% died, half of those presenting in infancy, and 89% of those who presented at admission with signs of cardiac failure. CONCLUSION: The results of our study show that similar to many centers, the etiology of HCM is often uncertain. In the absence of etiology, treatment aimed at the cause is either impossible or, at best, empirical.

Giant Apical Left Ventricular Diverticulum in a Health Teenager - Report of a Case within the Context of a Literature Review.

INTRODUCTION: Congenital left ventricular diverticulum appears to be a developmental anomaly, an idiopathic dysplasia of left ventricular endocardium and myocardium. No evidence of a viral aetiology was found. AIM: We have reviewed the relevant medical literature, outlined the natural history of these left ventricular abnormalities, and discussed options in regard to their management. RESULTS: The prognosis of LV outpouchings can vary from benign to catastrophic, depending upon the underlying cause. Accurate diagnosis is required to guide management decisions. High-quality imaging will characterize LV outpouchings well, helping clinicians to better understand the natural history of these conditions and to manage them appropriately. CONCLUSION: We believe that diverticulum can be detected on ECHO when it is performed precisely and carefully. In advanced centers selective computed tomography and LV angiography can be used in some cases to clearly demonstrate the outlet, size, and location of the diverticulum without the need for cardiac tomography or an MRI.

The Diagnostic and Clinical Approach to Pediatric Myocarditis: A Review of the Current Literature.

Myocarditis is an inflammatory disease of the myocardium with a broad spectrum of clinical presentations, ranging from mild symptoms to severe heart failure. The course of patients with myocarditis is heterogeneous, varying from partial or full clinical recovery in a few days to advanced low cardiac output syndrome requiring mechanical circulatory support or heart transplantation. Myocarditis is a very heterogeneous disease, especially in the pediatric age group as worldwide disease myocarditis has been defined by the World Health Organization/International Society and Federation of Cardiology as an inflammatory disease of the heart muscle diagnosed by established histological, immunologic, and immunohistological criteria. Pediatric myocarditis remains challenging from the perspectives of diagnosis and management. Multiple etiologies exist, and the majority of cases appear to be related to viral illnesses. Enteroviruses are believed to be the most common cause, although cases related to adenovirus may be more frequent than suspected. The clinical presentation is extremely varied, ranging from asymptomatic to sudden unexpected death. A high index of suspicion is crucial. There is emerging evidence to support investigations such as serum N-terminal B-type natriuretic peptide levels, as well as cardiac magnetic resonance imaging as adjuncts to the clinical diagnosis. In the future, these may reduce the necessity for invasive methods, such as endomyocardial biopsy, which remain the gold standard. Management generally includes supportive care, consisting of cardiac failure medical management, with the potential for mechanical support and cardiac transplantation. Treatments aimed at immunosuppression remain controversial. The paediatrics literature is extremely limited with no conclusive evidence to support or refute these strategies. All these summarised in this article and the listed current literature showed that there is no consensus regarding aetiology, clinical presentation, diagnosis, and management of myocarditis in pediatric patients.

A Giant Heart Tumor in Neonate with Clinical Signs of Pierre - Robin Syndrome.

INTRODUCTION: Pierre Robin syndrome is a congenital condition of facial abnormalities in humans. The three main features are: cleft palate, retrognathia and glossoptosis. Rarely heart tumors are associated with syndromes, mostly are isolated. CASE REPORT: In this presentation we describe a 3-weeks-old girl with Pierre-Robin syndrome and giant left ventricle tumor, diagnosed initially by transthoracic echocardiography. The purpose of this report is to review the literature on the fetuses and neonates with cardiac tumors in an attempt to determine the various ways which cardiac tumors differ clinically and morphologically in this age group.

Kosovo's Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect.

BACKGROUND: A feeding disorder in infancy and during childhood is a complex condition involving different symptoms such as food refusal and faddiest, both leading to a decreased food intake. AIM: We aimed to assess the prevalence and predictor factors of feeding difficulties in children who underwent cardiac open heart surgery in neonatal period and infancy. We address selected nutritional and caloric requirements for children after cardiac surgery and explore nutritional interdependence with other system functions. METHODS: This was a retrospective study in a tertiary referral hospital, and prior approval from the institutional ethics committee was obtained. Information for 78 children (42 male and 36 female) was taken from patients charts. Data were analysed with descriptive statistics and logistic regression. RESULTS: From a cohort of analysed children with feeding problems we have occurred in 23% of such cases. At the time of the study, refusal to eat or poor appetite was reported as a significant problem in 19 children and subnormal height and weight were recorded in 11 children. Early neonatal intervention and reoperation were identified as risk factors for latter feeding difficulties or inadequate intake. Children with feeding problems also tended to eat less than children without feeding problems. There was a trend towards more feeding problems in patients with chromosomal abnormalities or other associated anomalies. CONCLUSION: Feeding disorder is often and a frequent long-term sequel in children after neonatal or early infancy heart surgery. Patients with chromosomal and associated anomalies who underwent multiple cardiac surgeries are at risk of developing feeding difficulties.

Treatment of children with protein - losing enteropathy after fontan and other complex congenital heart disease procedures in condition with limited human and technical resources.

BACKGROUND: Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It's relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. AIM OF PRESENTATION: is to describe single centre experience in diagnosis, evaluation, management and treatment of children with protein-losing enteropathy after Fontan and other CCHD procedures in the current era and in centre with limited human and technical resources, follows with a comprehensive review of protein-losing enteropathy publications, and concludes with suggestions for prevention and treatment. MATERIAL AND METHODOLOGY: Retrospectively we analyzed patients with CCHD and protein-losing enteropathy in our institution, starting from January 2000 to December 2012. The including criteria were age between two and 17 years, to have a complex congenital heart disease and available complete documentation of cardiac surgery under cardiopulmonary bypass. RESULTS: Of all patients we evaluated 18 cases with protein-losing enteropathy, aged 6 to 19 years (mean 14±9); there were three children who had undergone screening procedure for D-transposition, one Tetralogy of Fallot, and remaining 14 patients had undergone Fontan procedures; (anatomic diagnosis are: six with tricuspid atresia, seven with d-transposition, double outlet right ventricle and pulmonary atresia and two with hypoplastic left heart syndrome). The diagnosis of protein-losing enteropathy was made at median age of 5.6 years, ranging from 13 months to 15 years. Diagnosis was made using alpha 1-antitrypsin as a gold marker in stool. By physical examination in 14 patients edema was found, in three ascites, and six patients had pleural effusion. Laboratory findings at the time of diagnosis are: abnormal enteric protein loss was documented at the time of diagnosis in all 18 patients. At the time of diagnosis all patients receiving some form of anticoagulation, 17 patients receiving other medication: 17 - diuretics and ACE inhibitors, 12 digoxin, 9 antiarrhytmics. Cross-sectional echocardiography was performed for all patients and different abnormalities were registered. In 14 patients also magnetic resonance was performed. Therapeutic approach was based on the non-specific medication (diet, diuretics, digoxin, ACE inhibitors, and anticoagulants), heparin and corticosteroids therapy. Long-term response to this type of therapy was registered in three patients. Nine patients underwent treatment with heparin and corticosteroids and no one experienced long term benefit. Despite of needs for catheter therapy or surgical intervention in our study, in the absent of technical and human resources now any one had underwent those procedures. Six patients has been transferred abroad and in five of them surgical intervention was perform. CONCLUSION: Protein-losing enteropathy remains a devastating complication of Fontan procedure and despite in advantages in surgical and medical therapy there is no evidence that protein-losing enteropathy is less common in the current area.

Klippel-Feil syndrome associated with atrial septal defect.

INTRODUCTION: Three major features result from this abnormality: a short neck, a limited range of motion in the neck, and a low hairline at the back of the head. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition. The etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, anomalies of the extremities etc. Associated anomalies occur in the auditory system, neural axis, cardiovascular system, and the musculoskeletal system. RESULTS AND DISCUSSION: Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. In our case we have had registered a nonrestrictive atrial septal defect and corrective surgical intervention at age 18 months in the Santa Rosa Children's Hospital (USA) has been done successfully. Careful examinations of specialist exclude anomalies in other organs and systems. Radiographs and MRI of the thoracic and lumbosacral spine are obtained and other anomalies have been excluded.