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Acta Radiologica Short Reports 2012Hepatosplenic involvement is a rare manifestation of abdominal tuberculosis in children. We describe the case of a 7-year-old girl with persistent fever, cough, and...
Hepatosplenic involvement is a rare manifestation of abdominal tuberculosis in children. We describe the case of a 7-year-old girl with persistent fever, cough, and hepatosplenomegaly. Typical lesions were shown in the liver and spleen by ultrasound and computed tomography. Colonoscopy showed a nodular, ulcerated mass that partially obstructed the cecum. Microbiological and histopathological findings of intestinal and liver biopsy confirmed the clinical suspicion of tuberculosis.
PubMed: 23986844
DOI: 10.1258/arsr.2012.12-0020 -
The Medical Journal of Malaysia Dec 2001A fulminant clinical presentation with high fever and hepatosplenomegaly, together with a course of worsening pancytopenia, coagulopathy and liver failure, is suggestive...
A fulminant clinical presentation with high fever and hepatosplenomegaly, together with a course of worsening pancytopenia, coagulopathy and liver failure, is suggestive of the haem syndrome (HPS). Bone marrow examination is diagnostic. We present 3 cases of HPS associated with different aetiologies including acute Ebstein Barr virus infection, T cell lymphoma, and malignant histiocytosis. In all the cases, the diagnosis was made late and the patients succumbed before definitive therapy could be administered.
Topics: Adult; Fatal Outcome; Histiocytosis, Non-Langerhans-Cell; Humans; Male; Middle Aged
PubMed: 12014773
DOI: No ID Found -
Revista Brasileira de Hematologia E... 2016Primary myelofibrosis is a Philadelphia-negative myeloproliferative neoplasm characterized by clonal myeloid expansion, followed by progressive fibrous connective tissue...
Primary myelofibrosis is a Philadelphia-negative myeloproliferative neoplasm characterized by clonal myeloid expansion, followed by progressive fibrous connective tissue deposition in the bone marrow, resulting in bone marrow failure. Clonal evolution can also occur, with an increased risk of transformation to acute myeloid leukemia. In addition, disabling constitutional symptoms secondary to the high circulating levels of proinflammatory cytokines and hepatosplenomegaly frequently impair quality of life. Herein the main current treatment options for primary myelofibrosis patients are discussed, contemplating disease-modifying therapeutics in addition to palliative measures, in an individualized patient-based approach.
PubMed: 27521865
DOI: 10.1016/j.bjhh.2016.04.003 -
Indian Pediatrics Jun 2004A 12-year-old male child reported with history of fever for last seven years. Hepatosplenomegaly, hepatic and bone marrow granulomas were the main features. Idiopathic...
A 12-year-old male child reported with history of fever for last seven years. Hepatosplenomegaly, hepatic and bone marrow granulomas were the main features. Idiopathic Granulomatous Hepatitis (IGH), a rare syndrome amenable to immunosuppressive therapy was diagnosed.
Topics: Child; Fever of Unknown Origin; Granuloma; Hepatitis; Humans; Male
PubMed: 15235170
DOI: No ID Found -
Journal of Medical Case Reports Jul 2022Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an...
BACKGROUND
Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ultimately to hepatosplenomegaly, neurodegenerative disorder and failure to thrive. Cherry-red spots in the macula and foamy cells in the bone marrow are other manifestations of the disease that help with diagnosis. Type A is a rare, untreatable disease with early manifestations and a poor prognosis, with newborns rarely surviving for 2-3 years.
CASE PRESENTATION
A 1-year-old Persian boy was referred to our clinic due to abdominal distention and poor weight gain. He was the first male offspring of consanguineous parents. Other findings were neurodevelopmental delay, hepatosplenomegaly, severe hypotonia, difficulty in breathing, and a slightly coarse face with an open mouth and protruding tongue. The initial diagnosis was clinical mucopolysaccharidosis (MPS) based on the coarse facial features, but further workup ruled out this inherited disorder. Enzyme histochemistry revealed that the level of acid sphingomyelinase was lower than normal. In the genetic study, next-generation sequencing of all coding exons and flanking intronic regions of the patient's DNA demonstrated a homozygous c.682T>G variant in the SMPD1 gene. This variant was classified as a variant of unknown significance. Further evaluation of DNA extract from his parents and examined using Sanger sequencing showed a heterozygous c.682T>G variant in the SMPD1 gene of both parents.
CONCLUSIONS
We describe a 1-year-old boy with neurodevelopmental delay, hepatosplenomegaly, and severe hypotonia. Further investigation demonstrated a new mutation for Niemann-Pick disease.
Topics: Exons; Hepatomegaly; Humans; Infant; Infant, Newborn; Male; Muscle Hypotonia; Mutation; Niemann-Pick Diseases; Sphingomyelin Phosphodiesterase; Splenomegaly
PubMed: 35883096
DOI: 10.1186/s13256-022-03486-5 -
Cureus Aug 2021infection, when acquired as an acute infection during pregnancy, can have substantial adverse effects on fetuses. We present the case of a 19-year-old pregnant woman...
infection, when acquired as an acute infection during pregnancy, can have substantial adverse effects on fetuses. We present the case of a 19-year-old pregnant woman with no previous relevant medical history. The ultrasound in the third trimester showed brain and abdominal abnormalities such as congenital hydrocephalus, volume loss of the brain parenchyma, and hepatosplenomegaly. The laboratory test showed positive IgM for . MRI was performed for better assessment and it shows the lesions in the central nervous system and other organs with more details.
PubMed: 34513467
DOI: 10.7759/cureus.16894 -
Cureus Jan 2020Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased...
Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course. Our case is of the infantile malignant osteopetrosis (IMOP) form. It is inherited as an autosomal recessive pattern that generally starts in intrauterine life and manifests at birth or early childhood. It is the most severe form and has an incidence of 1 in 250,000 births. The patient presented at the age of two months with a history of recurrent fever, recurrent pneumonia, developmental delay, and infantile spasms. Upon examination, she was found to have hepatosplenomegaly, axial hypotonia, limb spasticity, and visual impairment. Genetic testing revealed a homozygous variant of OSTM1 gene, which is a known Saudi mutation of autosomal recessive osteopetrosis (ARO). IMOP should be considered as a rare differential of hepatosplenomegaly. Early diagnosis by clinical picture, imaging, and genetic testing is important to direct the appropriate management in order to prevent disease progression before the irreversible neurological sequelae occur. Patients should be managed by a comprehensive approach, and currently, hematopoietic stem cell transplantation (HSCT) provides a better outcome for IMOP patients.
PubMed: 32015934
DOI: 10.7759/cureus.6725 -
JCEM Case Reports Nov 2023Niemann-Pick disease (NPD) is a heterogeneous group of lysosomal storage disorders with autosomal recessive inheritance pattern. There are 4 types of NPD. Patients with...
Niemann-Pick disease (NPD) is a heterogeneous group of lysosomal storage disorders with autosomal recessive inheritance pattern. There are 4 types of NPD. Patients with NPD type B generally have better prognosis, allowing them to survive into adulthood. They have a widespread clinical presentation, affecting multiple organs but rarely neurological involvement. Here, we describe the case of a 38-year-old woman with unexplained hepatosplenomegaly and young hypertensive intracranial bleed. Evaluation for young hypertension further revealed a nonfunctional bilateral adrenal mass and gross hepatosplenomegaly. NPD was confirmed through dried blood spot investigation. It showed low activity of acid sphingomyelinase and genetic testing also detected 2 pathogenic mutations. She is being managed by a multidisciplinary team for supportive treatment that includes regular symptoms monitoring and genetic counseling.
PubMed: 38077306
DOI: 10.1210/jcemcr/luad152 -
Clinical Pathology (Thousand Oaks,... 2022Hemophagocytic lymphohistiocytosis (HLH) is a disorder that occurs due to unsuitable monocyte activation in a variety of infections. In human immunodeficiency virus...
Hemophagocytic lymphohistiocytosis (HLH) is a disorder that occurs due to unsuitable monocyte activation in a variety of infections. In human immunodeficiency virus (HIV) infections, patients with advanced immunossupression associated with opportunistic infections are at increased risk of developing HLH. We describe a clinical case of a 33-year-old male student diagnosed with HIV who was hospitalized for investigation of asthenia and dyspnea, accompanied by adynamia, decreased motor force in the left leg, dysphagia, and dysfluency. His general condition was regular, he was pale, feverish, and had normal cardiac and pulmonary auscultation. Physical examination revealed ulcerated lesions in the perianal region and hepatosplenomegaly without palpable lymph node enlargement. Laboratory parameters showed pancytopenia, a slight increase in liver function accompanied by high lactate dehydrogenase, and hiperferritinemia. The initial diagnosis was disseminated histoplasmosis, thus amphotericin B deoxycholate was empirically prescribed while waiting on myeloculture and blood cultures for fungi and mycobacteria. Other clinical procedures were blood transfusion, resumption of antiretroviral therapy (ART) and secondary prophylaxis. Myeloculture blood cultures of fungi and mycobacteria were negative. Patient evolved well in relation to the initial complaints and showed partial clinical and laboratory improvement. However, 23 days after hospitalization, he developed a febrile episode accompanied by chills and a convulsive crisis. The patient was transferred to the intensive unit care and developed septic shock and respiratory failure. He died 25 days after the onset of the condition. After the postmortem examination, histopathology revealed countless rounded fungal structures compatible with sp., which were observed in the peripancreatic lymph node, liver, and spleen, in addition to hemophagocytosis in the splenic parenchyma. We thus conclude that when the patient met criteria for HLH, such as fever, hepatosplenomegaly, hiperferritinemia, and pancytopenia, the evolution was fast due to the aggressive and rapidly fatal nature of HLH, despite anti-fungal and corticoid treatment. Therefore, this case report reinforces the need to consider hemophagocytic syndrome in patients with HIV and disseminated histoplasmosis, especially where histoplasmosis is highly endemic, in order for the treatment be started early when there is high clinical suspicion.
PubMed: 36051652
DOI: 10.1177/2632010X221118059 -
Journal of Clinical Medicine Mar 2024Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that... (Review)
Review
Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory conditions. Among the metabolic diseases, lysosomal storage diseases (LSDs) are a group of rare and ultrarare conditions with a collective incidence of 1 in 5000 live births. LSDs are caused by genetic variants affecting the lysosomal enzymes, transporters, or integral membrane proteins. As a result, abnormal metabolites accumulate in the organelle, leading to dysfunction. Therapeutic advances, including early diagnosis and disease-targeted management, have improved the life expectancy and quality of life of people affected by certain LSDs. To access these new interventions, LSDs must be considered in patients presenting with hepatomegaly and splenomegaly throughout the lifespan. This review article navigates the diagnostic approach for individuals with hepatosplenomegaly particularly focusing on LSDs. We provide hints in the history, physical exam, laboratories, and imaging that may identify LSDs. Additionally, we discuss molecular testing, arguably the preferred confirmatory test (over biopsy), accompanied by enzymatic testing when feasible.
PubMed: 38592278
DOI: 10.3390/jcm13051465