Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

Niemann-Pick Disease (NPD) is a heterogeneous group of autosomal recessive disorders characterized by progressive accumulation of sphingomyelin and cholesterol in lysosomes. Six types of NPD have been described based on clinical presentation and involved organs. The primary defect in NPD types A and B is a deficiency of lysosomal acid sphingomyelinase (ASM). We present a case of a 5-year-old boy with type B NPD who had severe clinical manifestations, including heart involvement. He was first admitted to the hospital at 2 months because of vomiting, refusal to feed, lethargy, hepatomegaly and mild transaminasaemia. Liver biopsy at 12 months showed lipid accumulation and fibrosis. Investigations for lysosomal storage disorders revealed increased plasma chitotriosidase (549 nmol/h per ml, normal value 0-150). At 18 months, no detectable ASM activity was observed in cultured fibroblasts (normal range 23-226 nmol/h per mg protein) confirming NPD B. Pulmonary involvement was detected with high-resolution computerized tomography which revealed reticulonodular infiltrations and thickening of the interlobular septa. At 2 years growth retardation and kyphosis were noted. At 2.5 years he manifested neurodevelopment regression, indicating CNS involvement. Cardiac involvement (grade III mitral valve insufficiency) developed at 4 years and heart failure at 5 years. Genetic analysis revealed two mutations: a H421Y mutation that is common in Saudi Arabian and Turkish patients, and a W32X mutation, which has been found in other Mediterranean patients.

Cardiac manifestations of inborn errors of metabolism.

AIM: The aim of the study was to investigate the frequency and type of cardiac manifestations in a defined group of patients with inborn errors of metabolism. This paper also explores the key role of cardiac manifestations in the diagnosis of inborn errors of metabolism in daily practice. METHODS: Out of the 287 patients with the potential for inborn errors of metabolism who had been referred to the University Hospital of Heraklion (202 children and adolescents and 85 adults), 41 were found to have a variety of cardiac manifestations, including cardiomyopathy, cardiomegaly, atrioventricular conduction disorders and coronary artery disease. RESULTS: In 15 out of the 41 patients a diagnosis of inborn errors of metabolism was established, while the total number of patients with inborn errors of metabolism was 60 out of the 287. In 6 out of the 15 patients the major symptoms were from the cardiovascular system and 7 of them were adults with symptoms initiating in childhood. CONCLUSION: The cardiac findings consist of a neglected area in the diagnosis of the inborn errors of metabolism. Neurologists, pediatricians and internists should cooperate with cardiologists in managing people with unexplained cardiac symptoms and signs and be aware that several inborn errors of metabolism are associated with cardiac abnormalities and mild neurologic findings.

Exomphalos, inguinal hernia, renal agenesis, skeletal dysplasia, heart disease--a "new" syndrome?

We report a growth retarded, male child with exomphalos, bilateral direct inguinal hernias, unilateral renal agenesis, congenital heart defect, costovertebral dysplasia, microcephaly, ventricular septal defect, and paroxysmal supraventricular tachycardia associated with Wolff-Parkinson-White syndrome. The natural history of that syndrome is poorly understood and provisional suggestion of a new syndrome will depend on further similar observations.

Comparative study of the electrocardiograms of healthy fullterm and premature newborns.

The electrocardiograms of 421 healthy fullterm and premature newborns, recorded on the fifth day of life, were evaluated for possible systematic differences related to gestational age. All newborns were appropriate for gestational age and were divided into four groups according to birthweight. As birthweight increased, we noted: (a) a progressive rightward shifting of the QRS axis in the frontal plane; (b) an increase in the amplitude mainly of the precordial R and S waves reflecting the right ventricle and both ventricles combined, whereas a less significant increase or even a decrease was noted in the R and S waves reflecting the left ventricle; (c) a more frequent occurrence of diphasic and positive T waves in the right precordial leads; and (d) a prolongation in the duration of the P wave and the QRS complex. These findings reflect both an increase in total myocardial mass as well as a progressive right ventricular predominance, as birthweight or gestational age increases. Practical implications for electrocardiographic identification of cardiac hypertrophy in newborns of different gestational age are discussed.

Arterial blood pressure serum lipids and cardiovascular complications in families of hypertensive children.

The arterial blood pressure (B.P.), the cardiovascular complications and the type of hyperlipoproteinemia were studied in 98 families of hypertensive children (group A) and in 100 families of normotensive children (group B). In group A, hypertension was found in 27% of the parents and 47.4% of grandparents, whereas in group B in 7.5% and 22.5% respectively. In siblings of hypertensive children hypertension was found in 13.5% as apposed to 5.4% of those of normotensive children. Cardiovascular complications were recorded in 27.5% in the parents and grandparents of group A and in 12% in group B. Hyperlipoproteinemia with obvious preponderance of type II (IIa, IIb) and IV was found in 58.5% of parents in group A and 21.1% in group B.

Blood pressure in children and adolescents.

Blood pressure (BP) levels were recorded in 2223 male and 2205 female children and adolescents ranging in age from 7 to 18 years. In addition, 521 male adults (soldiers) ranging in age from 21 to 25 years were included in the study. Children and adolescents who participated in the survey were selected at random the Elementary and High Schools. The results of the study showed that a gradual increase occurred in the systolic, as well as in the diastolic component of blood pressure from 7 to 18 years of age. By contrast, there was no increase with age in the systolic and diastolic blood pressure in the young male adult subjects, who had BP measurements comparable to those observed in children. A child was characterized as hypertensive according to the criteria outlined by Master et al. Children with BP between the 90th and the 95th percentile were considered as suspect hypertensive, whereas those with BP exceeding the 95th percentile were considered definitely hypertensive. The overall incidence of hypertension in children in this survey was 3.1%.