Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms. In such cases, homozygous D409H is the most frequently detected mutation. In this article, we report the case of a patient, aged 15 years and 8 months, with complaints of syncope and a diagnosis of type IIIC Gaucher disease.

Summary

Background and objective: We studied the effect of different recumbent positions (supine, left and right lateral decubitus), on arterial oxygenation in 42 valvular heart disease patients planned for cardiac surgery. All patients had cardiomegaly (cardiothoracic ratio ≥0.5) in their chest X-rays. Their left ventricular end-diastolic diameter was also noted from the preoperative echocardiogram. Methods: Arterial blood gas analysis was performed in supine, left and right lateral positions after keeping the patient in a given position for 15 min. During this period all patients received 35% oxygen supplementation. Results: Arterial oxygen tension and haemoglobin saturation were significantly higher in the right lateral position (PaO2 = 120.6 ± 29.5 mmHg, SaO2 = 98.1 ± 1.4%) than in supine (PaO2 = 111.0 ± 30.6 mmHg, SaO2 = 97.6 ± 2.2%) and left lateral positions (PaO2 = 109.7 ± 32.0 mmHg, SaO2 = 97.6 ± 1.7%; mean ± SD; P < 0.01). There was no significant difference in arterial oxygenation between left lateral and supine positions (P > 0.05). The change in PaO2 and SaO2 with change of posture from left to right was significantly related to left ventricular end-diastolic diameter (r = 0.50 and r = 0.63, respectively; Pearson correlation). Repeated measures of analysis of variance with left ventricular end-diastolic diameter as a covariate showed a significant change in arterial PaO2 with posture (P = 0.011). Conclusion: Right lateral posture improves arterial oxygenation in the valvular heart disease patient with an enlarged left ventricle. In the preoperative period, these patients may benefit from a right lateral posture when lying in bed.