TaoMedAI/RareMedData huggingface dataset:
Acute motor and sensory axonal neuropathy (ORPHA:98917)
A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS).
Epidemiology
The overall annual incidence of GBS is estimated at between 1/91,000 and 1/55,000. The axonal (AMSAN and acute motor axonal neuropathy, AMAN; see this term), forms account for only 3-5% of cases of GBS in Western countries but are much more frequent (30%-50% of GBS cases) in Asia and Latin America.
Clinical description
Patients present with a clinical picture (muscle weakness and sensory deficits) similar to that of the more frequent demyelinating form of GBS, acute inflammatory demyelinating polyradiculoneuropathy (AIDP; see this term) but the disease course in AMSAN tends to be more severe. As in other types of GBS, an infectious disease precedes the onset of limb weakness in the majority of cases.
Etiology
Although the exact pathological mechanism is poorly understood, both AMAN and AMSAN are associated with the presence of antiganglioside antibodies (anti-GM1/GD1a/GM1b/GalNAc-GD1a) and may be caused by antibody-mediated primary axonal degeneration or antibody-mediated inhibition of voltage-gated sodium channels.
Prognosis
AMSAN is generally a severe form of GBS and recovery is often poor.

                            Last update: 
                            December 2009


                            - Expert reviewer(s): 
                            Pr P.A. [Pieter] VAN DOORN
Acute motor axonal neuropathy (ORPHA:98918)
A rare pure motor axonal form of Guillain-Barré syndrome (GBS).
Epidemiology
The overall annual incidence of GBS is estimated at between 1/91,000 and 1/55,000. The axonal forms (AMAN and acute motor-sensory axonal neuropathy, AMSAN; see this term) account for only 3-5% of cases in Western countries but are much more frequent (30%-50% of GBS cases) in Asia and Latin America.
Clinical description
AMAN presents with rapid onset of muscle weakness and absent reflexes. The clinical course in AMAN tends to be more severe than in the more frequent, demyelinating form of GBS, acute inflammatory demyelinating polyradiculoneuropathy (AIDP; see this term), with an increased number of patients requiring artificial ventilation due to respiratory involvement. However, there is no sensory deficit in AMAN and cranial nerve involvement is rare.
Etiology
In the majority of cases, AMAN occurs following Campylobacter jejuni infection, in particular following infection with strains of C jejuni that cause enteritis. Although the exact pathological mechanism is not fully understood, AMAN is associated with the presence of antiganglioside antibodies (primarily, anti-GM1/GD1a) and may be caused by antibody-mediated primary axonal degeneration or antibody-mediated inhibition of voltage-gated sodium channels.
Prognosis
Although the clinical course initially can be severe in AMAN, recovery can be rapid. However, recovery may be significantly prolonged in patients with extensive axonal degeneration.

                            Last update: 
                            December 2009


                            - Expert reviewer(s): 
                            Pr P.A. [Pieter] VAN DOORN
Acute myeloblastic leukemia with maturation (ORPHA:98834)
A rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.
Acute myeloblastic leukemia without maturation (ORPHA:98833)
A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.
Acute myeloid leukaemia with myelodysplasia-related features (ORPHA:86845)
A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent (ORPHA:102379)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain).
Acute myeloid leukemia and myelodysplastic syndromes related to radiation (ORPHA:164726)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure.
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor (ORPHA:102381)
A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement.
Acute myeloid leukemia with 11q23 abnormalities (ORPHA:98831)
A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (ORPHA:98829)
A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count.
Acute myeloid leukemia with CEBPA somatic mutations (ORPHA:319480)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) (ORPHA:402020)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dysplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
Acute myeloid leukemia with minimal differentiation (ORPHA:98832)
A rare subtype of acute myeloid leukemia characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood or other tissues. It usually presents with anemia, thrombocytopenia and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Low remission rates are reported.
Acute myeloid leukemia with NPM1 somatic mutations (ORPHA:402026)
A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages.
Acute myeloid leukemia with t(6;9)(p23;q34) (ORPHA:402014)
A rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.
Acute myeloid leukemia with t(8;16)(p11;p13) translocation (ORPHA:370026)
A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed.
Acute myeloid leukemia with t(8;21)(q22;q22) translocation (ORPHA:102724)
A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, forming a RUNX1-RUNX1T1 fusion gene, presenting with morphological characteristics which include myeloblasts with indented nuclei, basophilic cytoplasm with a prominent paranuclear hof that may contain a few azurophilic granules, prominent and possibly large promyelocytes, myelocytes and metamyelocytes, easily identifiable Auer rods and, more variably, bone marrow eosinophilia. Myeloid sarcoma is frequently present at diagnosis. Detection of the t(8;21)(q22;22) translocation is sufficient for diagnosis irrespective of blast count.
Acute myeloid leukemia with t(9;11)(p22;q23) (ORPHA:402017)
A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.
Acute myeloid leukemia with t(9;22)(q34.1;q11.2) (ORPHA:585867)
A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor.
Acute myelomonocytic leukemia (ORPHA:517)
A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially hepatosplenomegaly, and lymphadenopathy may also be associated.
Acute necrotizing encephalopathy of childhood (ORPHA:263524)
A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.
Acute neonatal citrullinemia type I (ORPHA:247546)
A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
Acute opioid intoxication (ORPHA:35889)
A rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication.
Acute pandysautonomia (ORPHA:231457)
A rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating.
Acute panmyelosis with myelofibrosis (ORPHA:86843)
A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response.
Acute peripheral arterial occlusion (ORPHA:90064)
A rare vascular condition characterized by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paresthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb.
Acute poisoning by drugs with membrane-stabilizing effect (ORPHA:43119)
A rare clinical situation characterized by acute, potentially life-threatening toxic effects of drugs acting on voltage-gated sodium or calcium channels, such as tricyclic antidepressants, anticonvulsants, local anesthetics and antiarrhythmics, some beta-blockers, and chloroquine. Clinical manifestations include abnormal ECG findings (intraventricular conduction block with widening of the QRS complex, T wave flattening, prolongation of the QT interval) and variable signs and symptoms depending on the drug, typically involving the cardiovascular and central nervous system, among others.
Acute pure sensory neuropathy (ORPHA:231450)
A rare, acquired, demyelinating neuropathy disease characterized by acute, symmetric, monophasic sensory neuropathy without motor involvement, typically manifesting with numbness in the distal lower limbs which progressively extends to all the limb, tingling sensation in the distal lower limbs, generalized areflexia, and unsteady gait, as well as clumsiness of the upper limbs, pseudoathetosis and loss of vibration sense.
Acute radiation syndrome (ORPHA:454831)
A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration.
Acute sensory ataxic neuropathy (ORPHA:231466)
A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain.
Acute transverse myelitis (ORPHA:139417)
A rare inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM).
Epidemiology
Annual incidence of IATM is estimated between 1/1,000,000 and 1/250,000. Incidence of SATM is variable and depends of the underlying disease.
Clinical description
Age of onset and clinical course vary depending on the form. The clinical manifestations common to both forms include motor involvement (limb weakness, stiffness and muscle spasms with impaired respiratory function in cases with involvement of the upper spinal cord), sensory manifestations (back pain, paresthesia, numbness and neuropathic pain) and autonomic findings (sexual dysfunction, urinary urge/retention, bowel urge/retention and autonomic dysreflexia). Other signs depend on the associated diseases in SATM, with involvement of cranial and peripheral nerves. IATM has a monophasic course whereas SATM may be relapsing.
Etiology
IATM is believed to be an immune-mediated disease, due to a late immune response against a recent infection that inadvertently targets the spinal cord. SATM is due to an inflammatory disease: multiple sclerosis (MS), neuromyelitis optica (NMO), systemic lupus erythematosus (SLE) and Sjögren's syndrome (see these terms), and may also be due to an infectious disease (bacterial, parasitic or viral).
Diagnostic methods
Diagnosis requires MRI of the spinal cord to confirm the presence of Acute transverse myelitis and cause, if any. Laboratory tests are also essential for identifying the cause of SATM: analysis of the cerebrospinal fluid may reveal the presence of oligoclonal bands (commonly seen in MS) or bacterial/viral/parasitic infections; serology may reveal the presence of autoantibodies to aquaporin-4 (NMO), anti-double-stranded DNA antibodies (SLE) or anti-Ro/SS-A antibodies (Sjögren's syndrome).
Differential diagnosis
The differential diagnosis includes acute transverse myelopathy associated with fistulae, trauma, acute compressive lesions (such as metastases and epidural abscess) and infarction of the spinal cord.
Management and treatment
Treatment approaches depend on the presence of an associated disease. Acute treatment may include corticosteroids and plasma exchange in steroid-resistant patients. The benefit of intravenous immunoglobulins and cyclophosphamide remains to be established. Long-term care includes symptomatic management, rehabilitative therapy, and, in case of SATM, long-term maintenance treatment to prevent relapses or disease progression.
Prognosis
The prognosis is variable, unpredictable and depends on the response to treatment. SATM is often relapsing and prognosis depends on prevention of further episodes.

                            Last update: 
                            June 2010


                            - Expert reviewer(s): 
                            Dr Anu JACOB  - Dr Alison L JONES
Acute tricyclic antidepressant poisoning (ORPHA:43117)
A rare, potentially lethal intoxication characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death.
Acute undifferentiated leukemia (ORPHA:98835)
A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly).