Von Gierke's disease, also known as glycogen storage disease (GSD) type 1A, is an autosomal recessive disease in which there is an inability to cleave glycogen to glucose because of a glucose 6 phosphate deficiency resulting in hypoglycemia and lactic acidosis. The patient may present with hepatomegaly and signs and symptoms of hypoglycemia. We diagnosed a case of Von Gierke's disease in a seve...

Angioedema is a common presentation with a broad differential, including rare disorders with which an allergist must be familiar. Our objective was to report a case of swelling of the hands and feet mimicking angioedema with hepatomegaly in a 4-year-old girl. The patient was evaluated for painful swelling of the hands and feet after exposure to sun. Examination revealed edema and erythema of th...

BACKGROUND Paragonimiasis, particularly hepatic paragonimiasis (HP), is a type of zoonotic parasitic disease rarely encountered in infants. There have been only a few reports of HP, and no case of HP has been reported in an infant. CASE PRESENTATION A 15-month-old girl presented with persistent mild fever with a duration of 1 month, hepatomegaly, and low-density lesions in the right hepatic l...

Thirty one children with typhoid fever aged 2 months to 12 years and blood culture positive for multidrug resistant S. typhi were prospectively studied for their hepatic functions at the time of hospitalization and 2-3 weeks after completion of antibiotic therapy. Hepatic manifestations included hepatomegaly (51.6%); jaundice (16.1%); raised levels of serum glutamic oxaloacetic transaminase (SG...

Banti's disease, or Banti's syndrome as it is now generally called, is really a symptom complex, characterized by splenomegaly, and a progressive anaemia, with a tendency to gastro-oesophageal haemorrhage, and often accompanied by some degree of hepatic involvement. In Banti's description of the condition, he distinguished three stages:(1) Splenomegaly with an associated secondary anaemia. (2) ...

Glycogenic hepatopathy (GH) is an uncommon cause of serum transaminase elevation in type I diabetes mellitus (DM). The clinical signs and symptoms of GH are nonspecific, and include abdominal discomfort, mild hepatomegaly, and transaminase elevation. In this report we describe three cases of patients presenting serum transaminase elevation and hepatomegaly with a history of poorly controlled ty...

A 31-year-old Hmong (Thai hilltribe) multiparous (G5P2) female with dengue hemorrhagic fever delivered a low birth weight male infant at 34 weeks estimated gestational age. The mother had fever for a total of 6 days, along with hepatomegaly, hepatic dysfunction and thrombocytopenia. Serology showed acute secondary dengue infection. She had no serious complications. The infant (birth weight 1,85...

Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes. Patients usually manifest recurrent ketotic hypoglycemia with growth delay, but some may present simple hepatomegaly. Although GSD IX is one of the most common causes of GSDs, its biochemical and genetic diagnosis has been problematic d...

Celiac disease (CD) has been associated with several genetic and immune disorders, but association between CD and hereditary fructose intolerance (HFI) is extremely rare. HFI is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1,6-bisphosphate aldolase). We report the case of a 5-year-old boy suffering from CD, admitted with an initial diagnosis of Reye's-li...

OBJECTIVE To evaluate the impact of enzyme replacement therapy for Gaucher Disease on clinical and laboratory parameters after two, five and ten years of treatment. METHODS Data were collected from patient records and analyzed using BioEstat software (version 5.0). Student's t-test, Analysis of Variance (ANOVA), Wilcoxon test and Kruskal-Wallis test were used for statistical analysis. Hepatom...