Hepatic Glycogenosis In Children: Spectrum Of Presentation And Diagnostic Modalities.

BACKGROUND: Objectives of the study were to determine the clinical spectrum of presentation and various modalities helpful in the diagnosis of liver glycogenosis short of genetic analysis. METHODS: All patients under 18 years of age presenting to Paediatric Gastroenterology unit of Children's Hospital, Lahore with suspicion of hepatic glycogen storage disease (GSD) were enrolled over a period of 18 months. Demographic profile and various factors under observation were recorded. Collected data was analysed using SPSS version 22. RESULTS: Among 89 enrolled patients F:M ratio was (1.28:1). The most common GSD was type I (71, 79.7%) followed by III (13, 14.6%), II (3, 3.3%), IV (1, 1.1%) and IX (1, 1.1%). The Abdominal distension was the most common presentation in 89.5% followed by hepatomegaly in 86.5%, diarrhoea in 41.6%, doll's like appearance in 31.5% and vomiting, acidotic breathing with convulsions in about 20% of children in GSD I. Hepatomegaly (100%), failure to thrive (85%), developmental delay (69%) and splenomegaly (92.3%) were leading presentation in GSD III. Elevated triglycerides (77.5%) followed by transaminesemia (56%), hypercholesterolemia (63%), hyperuricemia (32%) and hypoglycaemia (14%) were significant biochemical findings in GSD I. Consistently raised liver enzymes (92%) and creatinine phosphokinase (100%) in addition to hypertriglyceridemia (69%) were seen in GSD III. The presence of enlarged hepatocytes with clearing of cells favour GSD1 showed in 79% of children while fibrosis and steatosis usually seen in GSD-III (14.6%). CONCLUSIONS: Hepatic glycogen storage diseases are serious health issues and should be excluded in any patient who present with hepatomegaly, short stature and hyperlipidaemia to decrease the disease mortality and morbidity.

Electrocardiographic Manifestations In Paediatric Wilson Disease.

BACKGROUND: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation. The data on cardiac manifestations in children is very limited and only few adult studies are available in the literature. This study was planned to determine the frequency and spectrum of Electrocardiographic (ECG) changes in pediatric WD. METHODS: This was an observational cross-sectional study conducted at The Children Hospital & the Institute of Child Health, Lahore, from January 2015 to January 2017. The children diagnosed as Wilson disease were enrolled for the recording of resting ECG. The ECG changes were seen and discussed with an experienced pediatric cardiologist who was involved and explained about the objectives of study. RESULTS: Total 55 patients were enrolled but record of ECG was missing for 4 patients and excluded from the study. Out of 51 patients 22 had at least one ECG abnormality. Most frequent findings seen were T wave abnormality in 18 patients (35.2%) followed by sinus tachycardia and sinus bradycardia in 12 and 8 patients respectively. Other abnormalities included bifid P waves, ST segment changes each of 2 patients, and one premature ventricular contraction. QRS details including axis, complex, amplitude ratio and QT interval was normal in all the patients. There was no mortality during the study period due to cardiac cause. CONCLUSIONS: ECG abnormalities are not uncommon in pediatric WD but of mild nature. These are presumably related to underlying cardiomyopathy due to deposition of copper in heart which can be quantified by cardiac magnetic resonance imaging (MRI) and echocardiography is required to confirm ECG abnormalities detected.