Fever, and Leukodystrophy

Diseases related with Fever and Leukodystrophy

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

Top matches:

CRIGLER-NAJJAR SYNDROME, TYPE I Is also known as crigler-najjar syndrome|hyperbilirubinemia, crigler-najjar type i|hblrcn1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE I

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

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Other less relevant matches:

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

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

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 KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

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

Top 5 symptoms//phenotypes associated to Fever and Leukodystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia of the trunk Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormality of the cerebral white matter

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy Microcephaly Nystagmus Optic atrophy Cognitive impairment Vomiting Visual impairment Ataxia Developmental regression Tetraplegia CNS hypomyelination Hepatosplenomegaly Cerebral atrophy Hyperreflexia Failure to thrive Intellectual disability Irritability Hearing impairment Feeding difficulties Tremor Opisthotonus Spastic paraparesis Hemiplegia Peripheral demyelination Delayed speech and language development Poor head control Gait disturbance Weight loss Jaundice Lethargy Dysarthria Cerebellar atrophy Muscular hypotonia Muscle weakness Episodic fever Diarrhea Leukoencephalopathy Hypoplasia of the corpus callosum Brain atrophy Tetraparesis Spastic tetraparesis Paraparesis Severe global developmental delay Mental deterioration Dystonia Cerebral hypomyelination Spastic tetraplegia Elevated hepatic transaminase Hepatomegaly

Rare Symptoms - Less than 30% cases

Hepatic steatosis Recurrent infections Diffuse cerebral atrophy Postnatal microcephaly Splenomegaly Motor deterioration Metabolic acidosis Dilatation Respiratory failure CNS demyelination Lactic acidosis Diffuse leukoencephalopathy Growth delay Encephalitis Acidosis Ventriculomegaly Strabismus Gliosis Coma Blindness Progressive encephalopathy Respiratory distress Peripheral neuropathy Edema Macrocephaly Sensorineural hearing impairment Hypertonia Muscle stiffness Rigidity Difficulty walking Absent speech Motor delay Short stature CSF lymphocytic pleiocytosis Lymphocytosis Progressive microcephaly Reduced visual acuity Cerebral calcification Delayed myelination Thrombocytopenia Clonus Prolonged neonatal jaundice Memory impairment EEG abnormality Poor speech Myopathy Abnormality of extrapyramidal motor function Unsteady gait Behavioral abnormality Frequent falls Falls Decreased liver function Pain Wide anterior fontanel Cataract Headache Myalgia Depressed nasal bridge Abnormal facial shape Left ventricular hypertrophy Renal dysplasia Elevated serum creatine phosphokinase Gait ataxia Anorexia Abnormal flash visual evoked potentials Depressivity Cardiac arrest Unexplained fevers Decerebrate rigidity Areflexia Type I diabetes mellitus Exercise intolerance Scapular winging Pancreatitis Abnormal nerve conduction velocity Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Heterotopia Congestive heart failure Pachygyria Pulmonary hypoplasia Telecanthus Hypertrophic cardiomyopathy Hyperlordosis Abnormality of the pinna Respiratory tract infection Abnormality of the liver Dilated cardiomyopathy Congenital cataract Respiratory insufficiency Nausea and vomiting Limb muscle weakness Joint hyperflexibility Nausea Renal cyst Proximal muscle weakness Muscle cramps Hypoglycemia Arthralgia Generalized muscle weakness Dysphagia Increased serum lactate Arrhythmia Waddling gait Fatigue High forehead Dyspnea Cardiomyopathy Cardiomegaly Abnormality of the genital system Aciduria Organic aciduria Hyperammonemia Elevated plasma acylcarnitine levels Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Reduced protein C activity Ketotic hypoglycemia Hepatic periportal necrosis Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Defective dehydrogenation of isovaleryl CoA and butyryl CoA Electron transfer flavoprotein-ubiquinone oxidoreductase defect Impaired mastication Abnormality of the periventricular white matter Temperature instability Diffuse white matter abnormalities Neurogenic bladder Delayed CNS myelination Developmental stagnation Limb hypertonia Central hypotonia Multiple joint contractures Abnormality of blood glucose concentration Focal impaired awareness seizure Abnormal autonomic nervous system physiology Cerebral visual impairment Febrile seizures Focal-onset seizure Coarse facial features Constipation Flexion contracture Limb tremor Nonketotic hypoglycemia Ragged-red muscle fibers Difficulty climbing stairs Ketosis Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Restrictive ventilatory defect Cardiorespiratory arrest Ventricular fibrillation Stridor Back pain Polycystic kidney dysplasia Slurred speech Easy fatigability Mutism Progressive proximal muscle weakness Ketonuria Hypoglycemic coma Loss of ability to walk Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Abnormal corpus callosum morphology Excessive daytime somnolence Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Hypoketotic hypoglycemia Autoimmune thrombocytopenia Chronic fatigue Increased CSF protein Pneumonia Hyperactive deep tendon reflexes Portal hypertension Esophageal varix Acute hepatic failure Abnormality of lipid metabolism Protuberant abdomen Steatorrhea Malnutrition Cachexia Hyperlipoproteinemia Hypercholesterolemia Hyperlipidemia Atherosclerosis Increased body weight Hepatic fibrosis Hypertriglyceridemia Foam cells Vacuolated lymphocytes Abdominal distention Primary amenorrhea Emotional lability Personality changes Premature ovarian insufficiency Spastic gait Progressive neurologic deterioration Hemiparesis Amenorrhea Low-grade fever Progressive cerebellar ataxia Distal muscle weakness Dementia Adrenal calcification Bone-marrow foam cells Periportal fibrosis Pulmonary arterial hypertension Ascites Secondary amenorrhea Oculomotor nerve palsy Babinski sign Pruritus High-pitched cry Kernicterus Unconjugated hyperbilirubinemia Neonatal hyperbilirubinemia Biliary tract abnormality Attention deficit hyperactivity disorder Homocystinuria Athetosis Hyperkinesis Infantile muscular hypotonia Hyperbilirubinemia Clumsiness Hyperactivity Dysmetria Hepatic failure Anemia Cirrhosis Malabsorption Scarring Umbilical hernia Hernia Hypertension Rotary nystagmus Polyneuropathy Cerebellar vermis atrophy Toe walking Oral-pharyngeal dysphagia Lower limb spasticity Involuntary movements Choreoathetosis Specific learning disability Axonal degeneration Hyperventilation Ankle clonus Multiple gastric polyps Abnormality of metabolism/homeostasis Hydrocephalus Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains Autoamputation Recurrent respiratory infections CSF pleocytosis Vegetative state Morphological abnormality of the pyramidal tract Acrocyanosis Atrophy/Degeneration affecting the brainstem Basal ganglia calcification Visual loss Pes cavus Petechiae Horizontal nystagmus Progressive spasticity Global brain atrophy Hemiplegia/hemiparesis Postural tremor Decreased nerve conduction velocity EMG abnormality Sensorimotor neuropathy Pallor Progressive muscle weakness Optic disc pallor Generalized myoclonic seizures Neurodegeneration Sensory neuropathy Protruding ear Congenital glaucoma Spastic diplegia Delusions Polyhydramnios Severe muscular hypotonia Wide intermamillary distance Polymicrogyria Arthrogryposis multiplex congenita Abnormal pyramidal sign Retrognathia Intrauterine growth retardation Hypoplasia of the brainstem High palate Decreased circulating progesterone Cessation of head growth Spastic hemiparesis Rapid neurologic deterioration Primary gonadal insufficiency Abnormality of mitochondrial metabolism Agitation Systemic lupus erythematosus Glaucoma Cerebral palsy Intellectual disability, profound Hepatitis Skin rash Feeding difficulties in infancy Cerebral cortical atrophy Agenesis of corpus callosum Loss of speech Abnormality of the skeletal system Progressive leukoencephalopathy Frontoparietal polymicrogyria Psychomotor deterioration Primitive reflex Severe lactic acidosis Pendular nystagmus Oromotor apraxia


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