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8,094 Possible Causes for Hepatosplenomegaly with Extramedullary Hematopoiesis, Overfolded Superior Helix, Seizure

  • FGFR2-Related Bent Bone Dysplasia

    Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Aldosterone-producing adenoma with seizures[csbg.cnb.csic.es] […] plus, type 5, susceptibility to Sequencing of all coding exons of the gene - - 1.4 GABRD Generalised Epilepsy with febrile seizures plus (GEFS ) Sequencing of all coding[cegat.de] With Or Without Anosmia HH2 147950 Genetic Test Registry Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures[ukgtn.nhs.uk]

  • Hypoxia

    hematopoiesis.[bloodjournal.org] After extensive examination and consultation with neurology, the patient was diagnosed with hypoxia-induced seizure, but was not felt to have an underlying seizure disorder[ncbi.nlm.nih.gov] These symptoms were followed by grand mal seizure. Serum sodium level was 108 mmol/l.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Primary Myelofibrosis

    It is characterized by bone marrow fibrosis, extramedullary hematopoiesis with hepatosplenomegaly and leukoerythroblastosis in the peripheral blood.[ncbi.nlm.nih.gov] Extramedullary hematopoiesis may involve any organ and may result in gastrointestinal bleeding, spinal cord compression, seizures, haemoptysis, and/or effusions.[patient.info] The condition may result in GI tract hemorrhage, spinal cord compression, focal seizures, symptoms related to brain tumors, ascites, hematuria, pericardial effusion, pleural[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com] Seizures [ edit ] As noted above, the hypothalamic hamartoma can cause seizures. The most common types of seizures that occur are known as gelastic epilepsy.[en.wikipedia.org]

    Missing: Hepatosplenomegaly with Extramedullary Hematopoiesis
  • Gaucher Disease

    Based on bone marrow (BM) findings and on liver biopsy showing extramedullary hematopoiesis, an initial diagnosis of PMF was formulated.[ncbi.nlm.nih.gov] T y pe 2 Gaucher disease (acute infantile neuropathic Gaucher disease) symptoms usually begin by 3 months of age and includes extensive brain damage, seizures, spasticity,[ninds.nih.gov] Patients with this type may present at birth or during infancy with increased tone, seizures, strabismus, and organomegaly.[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • Familial Myelofibrosis

    , extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression, and shortened survival...[read.qxmd.com] Search for genes, diseases and other keywords, e.g. seizures, BRCA1 or therapy. Separate different terms with and, e.g. metformin and pancreas.[rareomics.healx.io] The clinical presentation of FM is that of extramedullary hematopoiesis and pancytopenia: Because of chronic bone marrow failure, hematopoiesis takes place in liver and spleen[symptoma.com]

    Missing: Overfolded Superior Helix
  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov] […] acidemia (PA), the most common form, is characterized by poor feeding, vomiting, and somnolence in the first days of life in a previously healthy infant, followed by lethargy, seizures[ncbi.nlm.nih.gov]

    Missing: Hepatosplenomegaly with Extramedullary Hematopoiesis
  • Autosomal Recessive Osteopetrosis Type 7

    Extramedullary hematopoiesis leads to hepatosplenomegaly. [1] The extramedullary hematopoiesis leading to hepatosplenomegaly was noted in the index patient.[wajradiology.org] Depending on severity and age of onset, features may includefractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures[monarchinitiative.org] Low calcium seizures 0002199 Increased head circumference 0040194 Motor delay 0001270 Multiple rib fractures 0006640 Nystagmus Involuntary, rapid, rhythmic eye movements[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Polycythemia Neonatorum

    Extramedullary hematopoiesis also occurs in these organs in response to anemia.[pathophys.org] Newborns with polycythemia neonatorum have nonspecific findings, related most often to the central nervous and respiratory systems: irritability or lethargy, hypotonia, seizures[symptoma.com] Differential Diagnosis section highlights 50 new topics, including: alcohol-related seizures, dysentery and inflammatory enterocolitis, hair loss, cystic and solid pancreatic[books.google.com]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    The 3 female fetuses all displayed clitoromegaly, and 1 had hepatosplenomegaly with extramedullary hematopoiesis that was noted at autopsy.[findzebra.com] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar] Related symptoms: Intellectual disability Seizures Global developmental delay Pica Growth delay SOURCES: UMLS DOID MESH OMIM MONDO More info about JOUBERT SYNDROME 10; JBTS10[mendelian.co]

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