Fever, and Cerebral atrophy

Diseases related with Fever and Cerebral atrophy

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

Top matches:

Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Fever


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4; EIEE4

FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.

FADD-RELATED IMMUNODEFICIENCY Is also known as fadd deficiency

Related symptoms:

  • Seizures
  • Fever
  • Ventricular septal defect
  • Cerebral atrophy
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about FADD-RELATED IMMUNODEFICIENCY

Other less relevant matches:

Medium match DRAVET SYNDROME

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Top 5 symptoms//phenotypes associated to Fever and Cerebral atrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Tremor Microcephaly Ataxia Abnormality of extrapyramidal motor function Hypoplasia of the corpus callosum Focal impaired awareness seizure Hearing impairment Severe global developmental delay Focal-onset seizure Abnormal pyramidal sign Hypertonia Generalized myoclonic seizures Myoclonus Motor delay Status epilepticus Generalized-onset seizure Tetraplegia Elevated hepatic transaminase Cognitive impairment Muscular hypotonia of the trunk Irritability Dysarthria Rigidity

Rare Symptoms - Less than 30% cases

Cerebral hypomyelination Atrophy/Degeneration affecting the brainstem Respiratory failure Respiratory insufficiency Hyperreflexia Hyperactivity Nystagmus Sensorineural hearing impairment Progressive microcephaly Postnatal microcephaly Hyperhidrosis Poor head control Cerebellar atrophy Ptosis Ventriculomegaly Feeding difficulties Dysphagia Spasticity Gait ataxia Intellectual disability, mild Babinski sign Neurodegeneration Developmental regression Epileptic encephalopathy Dyskinesia Intellectual disability, severe CNS hypomyelination Generalized tonic-clonic seizures Migraine Cerebral cortical atrophy Parkinsonism Abnormality of movement Mental deterioration Absent speech Postural tremor Depressivity Thrombocytopenia Hepatosplenomegaly Cerebral calcification Pruritus Abnormality of the cerebral white matter Delayed myelination Leukodystrophy Muscle stiffness Hemiplegia Dementia Generalized tonic seizures Cerebral white matter atrophy Strabismus Infantile muscular hypotonia Hyperkinesis Self-injurious behavior Athetosis Anxiety Failure to thrive Hypoglycemia Corpus callosum atrophy Abnormal facial shape Intrauterine growth retardation Optic atrophy Aggressive behavior Abnormality of eye movement Brain atrophy Episodic fever Lymphocytosis Gait disturbance CSF lymphocytic pleiocytosis Neutropenia Acute encephalopathy Craniofacial dystonia Focal motor seizures Growth delay Cataract Apnea Increased serum lactate Abnormality of the basal ganglia Aciduria Bradycardia Clonus Poor suck Weak cry Increased CSF lactate Cogwheel rigidity Morphological abnormality of the pyramidal tract Fatigue Inability to walk Choreoathetosis Abnormality of the nervous system Facial palsy Paralysis Ophthalmoplegia Confusion Coma Loss of speech Tetraparesis Progressive neurologic deterioration Paraparesis External ophthalmoplegia Mutism Bilateral ptosis Abnormality of mitochondrial metabolism Involuntary movements Hypertension Chorea Behavioral abnormality Hemiclonic seizures Multifocal seizures Generalized tonic-clonic seizures with focal onset Atonic seizures Neurodevelopmental delay Absence seizures Spastic paraplegia Cerebral visual impairment Cutaneous photosensitivity Febrile seizures Abnormal cerebellum morphology Stroke EEG abnormality Spastic tetraplegia Hypsarrhythmia Psychomotor retardation Muscular hypotonia Intellectual disability, profound Autoimmune antibody positivity Pulmonary artery atresia Hepatic fibrosis Decreased liver function Cholestasis Epileptic spasms Pneumonia Abnormality of cardiovascular system morphology Recurrent infections Ventricular septal defect EEG with burst suppression Impaired horizontal smooth pursuit Focal clonic seizures Obtundation status Tachycardia Hypokinesia Elevated serum creatine phosphokinase Renal insufficiency Infantile encephalopathy Decreased CSF homovanillic acid Oculogyric crisis Parkinsonism with favorable response to dopaminergic medication Night sweats Excessive salivation Focal dystonia Generalized dystonia Progressive encephalopathy Central hypotonia Limb dystonia Lower limb hyperreflexia Opisthotonus Delayed speech and language development Pes cavus Talipes equinovarus Respiratory distress Kinetic tremor Head tremor Hand tremor Constipation Resting tremor Brisk reflexes Personality changes Memory impairment Lethargy Bradykinesia Drooling Mask-like facies 3-Methylglutaconic aciduria


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