BACKGROUND Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within t...

Liver involvement is often observed in several hematological disorders, resulting in abnormal liver function tests, abnormalities in liver imaging studies, or clinical symptoms presenting with hepatic manifestations. In hemolytic anemia, jaundice and hepatosplenomegaly are often seen mimicking liver diseases. In hematologic malignancies, malignant cells often infiltrate the liver and may demons...

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder due to osteoclast abnormal activity. We report a thirteen month-old male patient, diagnosed as MIOP while investigating the cause of hepatosplenomegaly associated with hydrocephalus. His medical history revealed non consanguineous parents and one brother's death at the same age of unknown etiology (similar symptoms). Systemic e...

An overlap in the distribution of the 2 diseases (leishmaniasis and malaria) was reported in endemic areas, and it can cause significant delay in the diagnosis of leishmaniasis. Here, an 8-year-old Yemeni boy who was initially diagnosed as malaria and schistosomiasis, and later on as leishmaniasis is reported. He presented with prolonged fever, hepatosplenomegaly, and diarrhea. His blood film w...

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by proliferation and accumulation of clonal dendritic cells with varied clinical presentation and an unpredictable course. We report a 5-month-old infant with LCH who presented with severe respiratory distress, a large mediastinal mass, significant generalized lymphadenopathy, and hepatosplenomegaly. Lymphoma, especially T cel...

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder of immune dysregulation secondary to defective lymphocyte apoptosis. This leads to uninhibited proliferation of lymphoid tissue manifesting with lymphadenopathy, hepatosplenomegaly, autoimmune cytopenia, and an increased risk of lymphoid malignancy. We report a 2 year old boy with fever, generalized lymphadenopathy, he...

BACKGROUND Children with leukemia often have hepatosplenomegaly present. This can be diagnosed with physical examination and confirmed with ultrasound. We sought to determine if level of training influenced the ability to detect hepatosplenomegaly. METHODS All children diagnosed with leukemia during the past 5 years were reviewed. The training level of the examiner, the documentation of hepat...

Ophthalmoplegic lipidosis is a recently recognised neurovisceral storage disease which is also described as 'a neurovisceral storage disease with vertical supranuclear opthalmoplegia" or as 'juvenile dystonic lipidosis.'23 The clinical presentation varies, but there appear to be 3 groups of patients: firstly, those who present in infancy with failure to thrive, jaundice, and hepatosplenomegaly;...

We herein report a case of hepatosplenic T-cell lymphoma (HSTCL) incidentally found in 30-year-old man who came to the emergency department after an ankle trauma. At admission, laboratory tests revealed abnormal liver enzymes and pancytopenia, imaging showed mild hepatosplenomegaly. During hospitalization, patient’s clinical condition worsened rapidly, with concomitant increase cholestatic enzy...