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]
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]
Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.
[icd10data.com]
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]
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 (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]
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]
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]
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]
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]
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]
[…] include fever; difficulties feeding; small areas of bleeding under the skin, causing the appearance of small reddish or purplish spots; enlargement of the liver and spleen (hepatosplenomegaly
[listeningears.in]
They include hepatosplenomegaly (enlargement of the liver and spleen), fever, lethargy, difficulty feeding, anemia, petechiae, purpurae, jaundice, and chorioretinitis.
[en.wikipedia.org]
Ultrasound scan of the abdomen – to look for hepatosplenomegaly and neuroblastoma.
[dermnetnz.org]
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]
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]
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]
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]
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]
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]
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.
[ncbi.nlm.nih.gov]
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3|hlh3 Related symptoms: Anemia Fever Hepatosplenomegaly Pancytopenia Hypertriglyceridemia SOURCES
[mendelian.co]
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]
[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]
Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.
[icd10data.com]
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.
[hon.ch]
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]
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]
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]
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]
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]
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]
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]
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]
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]
The Phase 3 study will also evaluate the safety and tolerability of rhGUS, pulmonary function, walking, stair climb, shoulder flexion, fine and gross motor function, hepatosplenomegaly
[biospace.com]
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]
