Hepatosplenomegaly: Causes & Reasons

Possible Causes for Hepatosplenomegaly

In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis [ncbi.nlm.nih.gov]

Hepatosplenomegaly. ... [accessanesthesiology.mhmedical.com]

Mucopolysaccharidosis VI, also called as Maroteaux-Lamy syndrome, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, cardiovascular abnormalities [ncbi.nlm.nih.gov]

Infectious Mononucleosis

Both cases involved young adults presenting with fever, pharyngitis, lymphadenopathy, hepatosplenomegaly, and atypical lymphocytosis confirmed by serologic tests, liver biopsy [ncbi.nlm.nih.gov]

Third, the frequency of CD4CXCR5ICOSPD1 Tfh subset was significantly higher in lymphadenectasis or hepatosplenomegaly patients, and associated with the level of alanine aminotransferase [ncbi.nlm.nih.gov]

She presented with fever, skin rash, lymphadenopathy, and hepatosplenomegaly. [ncbi.nlm.nih.gov]

Juvenile Seronegative Polyarthritis

Migratory salmon colored light pink rash involving the trunk and/or extremities and hepatosplenomegaly are also frequently observed in patients with systemic onset. [radiopaedia.org]

[…] classified into various types based on the pattern of joint involvement, the presence of extra-articular manifestations (e.g., uveitis, rashes, nail changes, lymphadenopathy, hepatosplenomegaly [amboss.com]

[…] day best prognosis for long term remission (70%) Systemic (20%) systemic symptoms (rash, fever, multiple joint involvement) anemia, high WBC, elevated ESR, CRP, platelets hepatosplenomegaly [orthobullets.com]

Congenital Hepatic Fibrosis

Congenital hepatic fibrosis (CHF) is probably the most common cause of non-icteric hepatosplenomegaly and is encountered mainly in children and young adults. [ncbi.nlm.nih.gov]

We report two unrelated children with Joubert syndrome and hepatosplenomegaly. On histopathological examination, both had congenital hepatic fibrosis. [ncbi.nlm.nih.gov]

This diagnosis should be suspected when these biliary and renal abnormalities are associated with hepatosplenomegaly in a patient with normal liver function. [ncbi.nlm.nih.gov]

Gaucher Disease

We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia. [ncbi.nlm.nih.gov]

[ncbi.nlm.nih.gov] Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. [symptoma.com]

Type B is a later-onset form with no neurologic involvement but hepatosplenomegaly in many patients. [accessmedicine.mhmedical.com]

Angioimmunoblastic Lymphadenopathy

AILD is characterized by generalized lymphadenopathy, hepatosplenomegaly, immunological abnormalities, polyclonal hypergammaglobulinemia and anemia. [ncbi.nlm.nih.gov]

There are cellular infiltration of lymphocytes, immunoblasts, and plasma cells; change or effacement of lymph node architecture; hepatosplenomegaly; maculopapular rash; polyclonal [medical-dictionary.thefreedictionary.com]

Angioimmunoblastic lymphadenopathy with disproteinemia (AILD) is a systemic lymphoproliferative disorder characterized by constitutional symptoms such as generalized lymphadenopathy, hepatosplenomegaly [ncbi.nlm.nih.gov]

Niemann-Pick Disease Type C

Hepatosplenomegaly and progressive neurological symptoms are the main clinical features. [ncbi.nlm.nih.gov]

We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. [ncbi.nlm.nih.gov]

A galactose-free and lactose-free diet resulted in achievement of a normal galactose level, but hepatosplenomegaly and cholestatic signs persisted. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

Enzyme replacement therapy (ERT) using idursulfase (Elaprase®) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and [ncbi.nlm.nih.gov]

It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no [kmle.co.kr]

Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly [orpha.net]

Systemic Juvenile Idiopathic Arthritis

Appearance of rash, hepatosplenomegaly, serositis and generalized lymphadenopathy. [symptoma.com]

This characteristic diagnostic triad may also be associated with an adenopathy and hepatosplenomegaly. [orpha.net]

It is distinguished from other forms of JIA by extra-articular symptoms such as fever, hepatosplenomegaly, lymphadenopathy and serositis. [symptoma.com]

TORCH Syndrome

Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. [curofy.com]

Infections contracted during labor usually cause pneumonitis, hepatosplenomegaly, sepsis, anemia, among others. [lifepersona.com]

TORCH infections whenever a neonate presents with intrauterine growth restriction (IUGR), microcephaly, intracranial calcifications, conjunctivitis, hearing loss, rash, hepatosplenomegaly [pedclerk.bsd.uchicago.edu]

Cholesterol Ester Storage Disease

Hepatosplenomegaly without signs of chronic liver failure was confirmed upon physical examination. [njmonline.nl]

Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. [ncbi.nlm.nih.gov]

[…] deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly [medical-dictionary.thefreedictionary.com]

Wolman Disease

Infant leukemia most commonly present with pallor and hepatosplenomegaly. [ncbi.nlm.nih.gov]

[…] calcification) adrenal glands that retain their normal triangular shapes may show enlarged fatty-infiltrated lymph nodes MRI hepatosplenomegaly bilateral adrenal enlargement [radiopaedia.org]

Wolman disease is the infantile form of autosomal recessive acid lipase deficiency, typically presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure [ncbi.nlm.nih.gov]

Niemann-Pick Disease Type B

These patients may have mild hepatosplenomegaly, but the central nervous system is profoundly affected. [ncbi.nlm.nih.gov]

Common manifestation of NPD-B include hepatosplenomegaly, thrombocytopenia and variable neurologic deficits. [radiopaedia.org]

Personal history included hepatosplenomegaly diagnosed at the age of 6–7 months. [archbronconeumol.org]

Niemann-Pick Disease

Hepatosplenomegaly is a hallmark of both types of NPD and lymphadenopathy may occur in patients with type B. [symptoma.com]

These patients may have mild hepatosplenomegaly, but the central nervous system is profoundly affected. [ncbi.nlm.nih.gov]

Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections, and profound central nervous system involvement in infancy. [ncbi.nlm.nih.gov]

Gaucher Disease Type 2

There was no vulnerability of organs, easy bleeding or difficulty of maintaining the visual field because of hepatosplenomegaly during operation. [ncbi.nlm.nih.gov]

Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure [ncbi.nlm.nih.gov]

Snapshot A young boy presents with chronic fatigue and hepatosplenomegaly. Bone marrow aspirate histology is shown at the right. [medbullets.com]

Multicentric Castleman's Disease

A 46-year-old man presented with a high-grade fever, multiple lymphadenopathies, hepatosplenomegaly and human immunodeficiency virus (HIV) seropositivity, without severe immunosuppression [ncbi.nlm.nih.gov]

Multicentric Castleman's disease (MCD) typically presents with constitutional symptoms, generalized peripheral lymphadenopathy, hepatosplenomegaly, and laboratory markers [ncbi.nlm.nih.gov]

It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. [orpha.net]

Familial Myelofibrosis

Diseases related with Fever and Hepatosplenomegaly In the following list you will find some of the most common rare diseases related to Fever and Hepatosplenomegaly that can [mendelian.co]

The illness presented with pallor, haemorrhagic symptoms, and hepatosplenomegaly, and the blood picture was that of pancytopenia and leucoerythroblastosis. [adc.bmj.com]

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3|hlh3 Related symptoms: Anemia Fever Hepatosplenomegaly Pancytopenia Hypertriglyceridemia SOURCES [mendelian.co]

Adult-Onset Still Disease

Other common manifestations of AOSD are lymphadenopathy, hepatosplenomegaly, muscle aches, and pharyngitis. [symptoma.com]

[…] genetic factors, immune dysfunction and infections Clinical features Systemic inflammatory disease manifesting with spiking fever, sore throat, arthralgia, skin rash and hepatosplenomegaly [pathologyoutlines.com]

Adult onset Still's disease (AOSD) is a systemic inflammatory disease characterized by high-fevers, articular involvement, maculopapular rash, hepatosplenomegaly, lymphadenopathy [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 6

[termedia.pl] Liver, Gall & Pancreas Hepatosplenomegaly Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly [symptoma.com]

This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease. [malacards.org]

Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects. [medical-dictionary.thefreedictionary.com]

Mucopolysaccharidosis Type 1

Symptoms usually become apparent between three and eight years of age and include coarse facial features, corneal clouding, joint stiffness, short stature and hepatosplenomegaly [news-medical.net]

Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. [icd10data.com]

Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. [hon.ch]

Mucopolysaccharidosis Type 3

Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. [hon.ch]

Symptoms usually become apparent between three and eight years of age and include coarse facial features, corneal clouding, joint stiffness, short stature and hepatosplenomegaly [news-medical.net]

Developmental milestones were normal until 5 years old when she developed restless behavior, loss of motor skills, stiff gait, muscular spasticity, hepatosplenomegaly, and [bloodjournal.org]

Hemophagocytic Lymphohistiocytosis

Reported here is the case of a 12-year-old boy, from a poor family, with a 6-year history of visual loss and fever for 5 months, and transient hemiparesis with hepatosplenomegaly [ncbi.nlm.nih.gov]

We describe a 10-year-old boy with a 9-year history of prolonged fever and progressive hepatosplenomegaly who was diagnosed as having hemophagocytic lymphohistiocytosis 2, [ncbi.nlm.nih.gov]

We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. [kjp.or.kr]

Aggressive Systemic Mastocytosis

The patient was a 37-week-old male, born by caesarean section owing to hepatosplenomegaly and ascites diagnosed in utero, who exhibited extensive cutaneous and systemic manifestations [ncbi.nlm.nih.gov]

Respective clinical findings (so called C-Findings) include cytopenias, osteolysis (or osteoporosis) with pathologic fractures, hepatosplenomegaly with impaired liver function [ncbi.nlm.nih.gov]

A 58-year-old man was first seen with aggressive systemic mastocytosis manifested by urticaria pigmentosa, hepatosplenomegaly, generalized bone lesions, anemia, thrombocytopenia [ncbi.nlm.nih.gov]

Prolymphocytic Leukemia

This patient's condition was diagnosed as T-cell prolymphocytic leukemia based on the findings of lymphocytosis, abnormal immunophenotype, hepatosplenomegaly, lymphadenopathy [ncbi.nlm.nih.gov]

T-cell prolymphocytic leukaemia (T-PLL) is a rare aggressive lymphoid disease featured by a significant increased lymphocyte count and obvious hepatosplenomegaly with poor [ncbi.nlm.nih.gov]

Hepatosplenomegaly was absent. He was diagnosed as having T-PLL and was treated with combination chemotherapy. Six months later the leukemic cell became chemoresistant. [ncbi.nlm.nih.gov]

Malignant Histiocytosis

A 10-year-old boy with malignant histiocytosis presented with fever, hepatosplenomegaly, and diffuse pancreatic enlargement, mimicking acute pancreatitis. [ncbi.nlm.nih.gov]

A 70-year-old woman was admitted for evaluation of hepatosplenomegaly, fever and elevated serum LDH levels. [ncbi.nlm.nih.gov]

Abstract Until recently, malignant histiocytosis was a clearly defined clinical entity marked by fever, progressive wasting, lymphadenopathy, hepatosplenomegaly, and pancytopenia [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 7

Peripheral edema had resolved, but hepatosplenomegaly and jaundice persisted. [journals.lww.com]

Clinical description Clinical signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly [orpha.net]

Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button [ghr.nlm.nih.gov]

Systemic Mastocytosis

We report the case of a 48-year old male patient who presented with hepatosplenomegaly for 12 years, yellow-brown colored maculopapular pigmentation on the skin and pancytopenia [sciforschenonline.org]

RESULTS: We included 88 patients with ISM, of whom 9 developed new hepatosplenomegaly during follow-up. [ncbi.nlm.nih.gov]

Ultrasonography demonstrated marked hepatosplenomegaly. Liver biopsy was suggestive for hemochromatosis. [eurorad.org]

ALK+ Histiocytosis

Anemia, thrombocytopenia, and hepatosplenomegaly are the hallmarks of ALK+H. [symptoma.com]

The patients presented with pallor, massive hepatosplenomegaly, anemia, and thrombocytopenia. [ashpublications.org]

Abdominal distension due to hepatosplenomegaly may be detected in the physical examination. [symptoma.com]

Congenital Syphilis

Common clinical features of early congenital syphilis include hepatosplenomegaly, skeletal deformities, hematologic disturbances, and mucocutaneous features such as rhinitis [ncbi.nlm.nih.gov]

Sonography of a fetus, later proved to have congenital syphilis, revealed hepatosplenomegaly, noncontinuous gastrointestinal tract obstruction, and placentomegaly. [ncbi.nlm.nih.gov]

A previously healthy male infant developed hepatosplenomegaly, severe anaemia and thrombocytopenia 5 weeks after birth. [ncbi.nlm.nih.gov]

Mast Cell Leukemia

hepatosplenomegaly, and upper abdominal lymphadenopathy. [wikidoc.org]

Enlargement of the liver and spleen, or hepatosplenomegaly is characteristic. [en.wikipedia.org]

[…] peripheral blood, diffuse infiltration with atypical mast cells in the bone marrow, a strong association with peptic ulcer disease, prominent constitutional symptoms, and hepatosplenomegaly [ncbi.nlm.nih.gov]