Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease, caused by defective transport of dibasic amino acids. Failure to thrive, hepatosplenomegaly, hematological abnormalities, and hyperammonemic crisis are major clinical features. However, there has been no reported Korean patient with LPI as of yet. We recently encountered a 3.7-yr-old Korean girl with LPI and the diagnosi...

To cite: AlShati MH. Thorax 2014;69:200–201. CASE A 44-year-old man presented to hospital with haemoptysis and progressive dyspnoea. Examination revealed room air oxygen saturation of 91% with diffuse chest crackles, gynaecomastia and hepatosplenomegaly. Scrotal examination was unremarkable. Radiological investigations revealed numerous bilateral pulmonary nodules of variable size (cannonball a...

GAUCHER'S DISEASE is a familial disorder characterized by accumulation in reticuloendothelial cells of glucocerebrosides, compounds containing sphingosine, fatty acid, and glucose in equimolar amounts. The storage cells, called Gaucher cells, have a characteristic appearance, and their increasing numbers in the liver, spleen, lymph nodes, and bone marrow are responsible for most of the clinical...

OBJECTIVE To study the clinical and biochemical spectrum of Gaucher disease. DESIGN Assay of beta glucosidase enzyme in leucocytes in patients with splenomegaly, and in chorionic villi for prenatal diagnosis. SETTING Hospital-based. SUBJECTS Of 13 cases of Gaucher disease, aged 1-6 years, 9 were identified at Delhi and 4 at Bombay. RESULTS The enzyme beta-glucosidase was 0.65 nmol/h/mg ...

A triad of iron deficiency anemia, hepatosplenomegaly and growth retardation occurring in tandem with zinc deficiency has been reported in the past as components of either Prasad's syndrome or hypopituitarism. There are no documented cases of such triad occurring in the presence of normal serum zinc levels. We report a case of a 14-year-old boy who presented with iron deficiency anemia, hepatos...

We described the successful allogeneic matched sibling bone marrow transplantation (BMT) in a 5-year-old Thai boy in whom osteopetrosis was diagnosed on the basis of anemia, thrombocytopenia, leukoerythroblastosis, sclerotic bone, hepatosplenomegaly, and visual deficit from an encroachment of cranial nerve foramina. The preparative regimen included 4 days of busulfan 4 mg/kg/day, and 4 days of ...

Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age, GSD had been diagnosed by liver biopsy at another hospital. He showed elevated serum liver enzymes and dyslipidemia. Liver biopsy revealed diffuse microvesicular fatty changes in he...