Diagnostic dilemmas in fulminating sub-acute sclerosing pan-encephalitis (SSPE) with atypical presentation

@#Subacute sclerosing panencephalitis (SSPE) is a progressive, fatal disease of the central nervous system caused by a persistent measles virus in the brain. It is clinically characterized by insidious onset of intellectual deterioration and behavioral changes followed by myoclonic jerks and eventually complete neurologic deterioration. In about 10% of patients, the clinical manifestations of SSPE are not typical and that may cause a delay in the diagnosis. We report here 3 cases of SSPE with atypical presentations. Bilateral vision loss, hemiparesis, ataxia and acute encephalopathy with focal seizures were respectively the presenting symptoms at the onset of disease. The typical periodic EEG complexes in two patients and positive CSF measles IgG antibody led to the diagnosis of SSPE.

unusual presentation of neurononopathic Gauchers disease

A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities. The clinical and bone marrow findings were consistent with Gaucher's disease type 3

Clinical presentation of dilated cardiomyopathy in children

To describe the presenting symptoms of dilated cardiomyopathy in children. Descriptive case series. This Study was conducted at the Department of Pediatrics, Bolan Medical complex Hospital, Quetta during a period of 1 year. Following patients were included in this study; that had tachycardia, respiratory distress, and heart failure. Following patients were excluded from this study; hypertrophic cardiomyopathy, restrictive cardiomyopathy, coronary artery anomalies, congenital heart disease, Rheumatic carditis and RHD. 50 Patients were included and their clinical variables, laboratory parameters and echocardiograms were analyzed. Out of 50 patients, 5 died, all these were 10 years or older. The following symptoms were found to be clinically significant. respiratory distress p<0.05, poor feeding p<0.05. The signs were clinically significant. Arrhythmia p<0.05, Fever p<0.05, Tachycardia p<0.05, Tachypnea p<0.05, Hepatosplenomegaly p<0.05, gallop rhythm p<0.05. Other significant findings were: X-ray chest, increased cardio thoracic ratio p<0.05. On echocardiography increased dimension >115 and ejection fraction <20% p<0.05, ST segment changes and T wave abnormality p<0.05. High index of suspicion followed by appropriate investigation can lead to correct diagnosis