Fever, and Leukoencephalopathy

Diseases related with Fever and Leukoencephalopathy

In the following list you will find some of the most common rare diseases related to Fever and Leukoencephalopathy that can help you solving undiagnosed cases.

Top matches:

This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Other less relevant matches:

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Medium match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Top 5 symptoms//phenotypes associated to Fever and Leukoencephalopathy

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Abnormality of the cerebral white matter Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Leukoencephalopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Leukodystrophy

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Encephalitis Vomiting Gait disturbance Hyperreflexia Tremor Peripheral demyelination Nystagmus Developmental regression Dementia Dysphagia Muscle weakness Tetraplegia Mental deterioration Diffuse leukoencephalopathy Peripheral neuropathy Gliosis Feeding difficulties Failure to thrive Intellectual disability Hearing impairment Personality changes Hypertonia Spastic tetraparesis Abnormality of extrapyramidal motor function Hepatomegaly Cerebral cortical atrophy Recurrent infections Constipation Abnormal autonomic nervous system physiology Tetraparesis Brain atrophy Abnormal pyramidal sign Irritability Muscular hypotonia of the trunk Myopathy Visual impairment Growth delay Hemiparesis Depressivity Hypoglycemia Cerebral atrophy Delayed speech and language development Motor delay Babinski sign Progressive cerebellar ataxia Progressive neurologic deterioration Muscular hypotonia Macrocephaly Optic atrophy Microcephaly Abnormality of eye movement Coma

Rare Symptoms - Less than 30% cases

Visual loss Hypotension Urinary incontinence Spastic tetraplegia Migraine Subdural hemorrhage Metabolic acidosis Neurogenic bladder Diffuse white matter abnormalities Hemiplegia Acidosis Apathy Episodic fever Respiratory failure Bulbar palsy Edema Hypoplasia of the corpus callosum Cerebral ischemia Neurological speech impairment EEG abnormality High palate Pseudobulbar paralysis Opisthotonus Hyperhidrosis Headache Severe global developmental delay Delayed myelination Sensorineural hearing impairment Lower limb muscle weakness Dysmetria Atrophy/Degeneration affecting the brainstem Spastic diplegia Cerebral palsy Stroke Postnatal microcephaly Cerebral calcification Abnormal cerebellum morphology Hypertension Confusion Feeding difficulties in infancy Vertigo Hepatosplenomegaly Rigidity Facial palsy Agenesis of corpus callosum Dilatation Dystonia Cerebellar atrophy Inability to walk Ventriculomegaly Bowel incontinence Muscle stiffness Clumsiness Truncal ataxia Choreoathetosis Diarrhea Memory impairment Amenorrhea Paraparesis Poor speech Spastic paraparesis CNS hypomyelination Emotional lability Progressive encephalopathy Weight loss Thrombocytopenia Splenomegaly Unsteady gait Cerebral hypomyelination Progressive spasticity Flexion contracture Hyporeflexia Dehydration Increased CSF protein Drowsiness Mania Perseveration Muscle fibrillation Aciduria Neuronal loss in central nervous system Abnormality of nervous system morphology Scintillating scotoma Poor coordination Exercise intolerance Joint dislocation Hyperkinesis Intracranial hemorrhage Malnutrition Dysphasia Malignant hyperthermia Generalized dystonia Ketonuria Oral-pharyngeal dysphagia Abnormality of the retinal vasculature Large fontanelles Microcoria Subcutaneous hemorrhage Hypersomnia Cardiomyopathy Prominent forehead Nonarteritic anterior ischemic optic neuropathy Recurrent singultus Recurrent subcortical infarcts Abulia Progressive macrocephaly Pseudobulbar signs Subcortical dementia Large face Hyperpigmented nevi Abnormal facial shape Aqueductal stenosis Respiratory tract infection Bulbar signs Dilation of lateral ventricles Abnormality of movement Retinal arteriolar tortuosity Hypothermia Megalencephaly Dyskinesia Focal sensory seizure Amaurosis fugax Paralysis Acute encephalopathy Decreased plasma carnitine Dilatation of the bladder Diabetes mellitus Kyphosis Delayed CNS myelination Hydrocephalus Respiratory insufficiency Short neck Frontal bossing Temperature instability Ptosis Scoliosis Symmetric peripheral demyelination Oromotor apraxia Intellectual disability, mild Decreased sweating due to autonomic dysfunction Cervical spinal cord atrophy Hypothyroidism Autonomic erectile dysfunction Autonomic bladder dysfunction Limb muscle weakness Orthostatic hypotension due to autonomic dysfunction Paraplegia Atrophy of the spinal cord Corpus callosum atrophy Heat intolerance Action tremor Orthostatic hypotension Hypohidrosis Limb ataxia Abnormality of the urinary system Impotence Developmental stagnation Limb hypertonia Fasting hypoglycemia Ketonemia Urinary urgency Infantile encephalopathy Self-injurious behavior Retinal hemorrhage Precocious puberty Glutaric aciduria Dysphonia Glutaric acidemia Sleep apnea Clonus Macrocephaly at birth Diplopia Symmetrical progressive peripheral demyelination Chorea Absent speech Central hypotonia Sudden cardiac death Sleep disturbance Nausea and vomiting Reduced visual acuity Coarse facial features Focal-onset seizure Febrile seizures Cerebral visual impairment Cough Focal impaired awareness seizure Multiple joint contractures Hyperlordosis Osteopenia Abnormality of the periventricular white matter Migraine with aura Vegetative state Stroke-like episode Dysgammaglobulinemia Involuntary movements Chronic diarrhea Recurrent bacterial infections IgA deficiency Hepatocellular carcinoma IgG deficiency Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Cholangitis Stomatitis IgM deficiency Chronic hepatitis Increased IgM level Otitis media Sclerosing cholangitis Cholangiocarcinoma Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Intrauterine growth retardation Respiratory distress Polyhydramnios Retrognathia Recurrent otitis media Decreased antibody level in blood Lactic acidosis Hyperventilation Skeletal muscle atrophy Gait ataxia Peripheral axonal neuropathy Slurred speech Episodic ataxia Sensory ataxia Blindness Distal muscle weakness Lethargy Primary amenorrhea Spastic gait Premature ovarian insufficiency Axonal degeneration Secondary amenorrhea Delusions Sepsis CNS demyelination Primary gonadal insufficiency Rapid neurologic deterioration Spastic hemiparesis Cessation of head growth Decreased circulating progesterone Anemia Immunodeficiency Carcinoma Abnormality of the liver Autoimmunity Hemolytic anemia Neurodegeneration Neutropenia Arthrogryposis multiplex congenita Polymicrogyria Varicose veins Bradykinesia Chilblains Chronic CSF lymphocytosis Deep white matter hypodensities Increased CSF interferon alpha Pain Behavioral abnormality Elevated serum creatine phosphokinase Abnormality of the eye Pallor Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Nausea Sensory neuropathy Abnormality of the skin Psychosis Multiple gastric polyps Myocardial infarction Recurrent pneumonia Atherosclerosis Shock Cranial nerve paralysis Abnormal electroretinogram Cerebral hemorrhage Aphasia Scotoma Amyloidosis Impaired pain sensation Optic neuropathy Abnormality of visual evoked potentials Transient ischemic attack CSF lymphocytic pleiocytosis Autoamputation Wide intermamillary distance Glaucoma Severe muscular hypotonia Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Agitation Loss of speech Pendular nystagmus Severe lactic acidosis Primitive reflex Psychomotor deterioration Frontoparietal polymicrogyria Progressive leukoencephalopathy Strabismus Abnormality of the skeletal system Pneumonia Elevated hepatic transaminase CSF pleocytosis Skin rash Hepatitis Intellectual disability, profound Progressive microcephaly Poor head control Systemic lupus erythematosus Petechiae Congenital glaucoma Prolonged neonatal jaundice Basal ganglia calcification Acrocyanosis Diffuse cerebral atrophy Morphological abnormality of the pyramidal tract Lymphocytosis Diffuse demyelination of the cerebral white matter


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