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.