Hydrocephalus, and Encephalitis

Diseases related with Hydrocephalus and Encephalitis

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


Top matches:

High match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

High match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

High match ALEXANDER DISEASE; ALXDRD


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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


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

Medium match FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY


Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2


Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Medium match AICARDI-GOUTIERES SYNDROME 1; AGS1


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 ALPERS-HUTTENLOCHER SYNDROME


Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Medium match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Encephalitis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Hydrocephalus and Encephalitis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Increased CSF protein Hepatomegaly Failure to thrive Gliosis Tetraplegia Vomiting Hypertonia Muscular hypotonia Coma Encephalopathy Gait disturbance Irritability Thrombocytopenia Elevated hepatic transaminase Feeding difficulties Motor delay Spastic diplegia Hyponatremia Diarrhea Leukopenia Headache Skin rash Aciduria Diplopia Meningitis Dementia Dysphagia Hemiplegia Developmental regression Hepatosplenomegaly Peripheral demyelination Leukoencephalopathy Jaundice Splenomegaly Anemia Rigidity CSF pleocytosis Pneumonia Tremor Abnormality of the cerebral white matter EEG abnormality Cognitive impairment Nystagmus Short stature Increased intracranial pressure Intracranial hemorrhage

Rare Symptoms - Less than 30% cases


Dysarthria Hepatitis Brain atrophy Edema Dilatation Cerebral atrophy Dystonia Cerebellar atrophy Acidosis Hypoglycemia Feeding difficulties in infancy Petechiae Atrophy/Degeneration affecting the brainstem Progressive encephalopathy Microcephaly Progressive spasticity Hyperreflexia Leukodystrophy Cerebral calcification Intrauterine growth retardation Abnormality of eye movement Increased serum ferritin Neurological speech impairment Cough Respiratory failure Paralysis Abnormality of extrapyramidal motor function Abnormality of movement Hemophagocytosis Neoplasm Hypoalbuminemia Hypertension Decreased liver function Hypertriglyceridemia Pancytopenia Lymphadenopathy Abnormality of the nervous system Generalized edema Polyneuritis Prolonged prothrombin time Increased total bilirubin Neuronal loss in central nervous system Hypofibrinogenemia Hemiparesis Spastic tetraplegia Recurrent infections Abnormality of the liver Hepatic failure Sepsis Acute encephalopathy Episodic fever Cerebral palsy Choreoathetosis Agenesis of corpus callosum Hyperhidrosis Hypoproteinemia Growth delay Macrocephaly Vertigo Abnormality of vision Hallucinations Cirrhosis Abnormality of the eye Migraine Scoliosis Gastroesophageal reflux Chronic diarrhea Emotional lability Depressivity Strabismus Ptosis Confusion Adrenal hypoplasia Cellular immunodeficiency Pulmonary infiltrates Decreased HDL cholesterol concentration Prolonged partial thromboplastin time Acute leukemia Severe combined immunodeficiency Cryptorchidism Increased antibody level in blood Shawl scrotum Neurodegeneration Hyperkalemia Histiocytosis Increased LDL cholesterol concentration Combined immunodeficiency Astrocytosis Gastrointestinal dysmotility Granulocytopenia T-cell lymphoma Increased VLDL cholesterol concentration Adrenal insufficiency Plasmacytosis Lipogranulomatosis Abnormal natural killer cell physiology Partial albinism Hyperbilirubinemia Abnormality of the coagulation cascade Gastric ulcer Radial club hand Epilepsia partialis continua Phonic tics Cerebral degeneration Esophageal stricture Ethylmalonic aciduria Microphallus Achalasia Overlapping fingers Multifocal seizures Immune dysregulation Chronic hepatitis Immunodeficiency Albinism Cerebral cortical neurodegeneration Micronodular cirrhosis Microvesicular hepatic steatosis Aspiration pneumonia Leukemia 3-Methylglutaconic aciduria Hemolytic anemia Bile duct proliferation Lymphoma Aspiration Fetal akinesia sequence Purpura Eosinophilia Tics Severe failure to thrive Abnormality of the skeletal system Optic atrophy Recurrent bacterial infections Chilblains Chronic CSF lymphocytosis Generalized-onset seizure Deep white matter hypodensities Hypospadias Hypergonadotropic hypogonadism Increased CSF interferon alpha Hearing impairment Micrognathia Lymphopenia Peripheral neuropathy Hyperpigmentation of the skin Patent ductus arteriosus Blindness Multiple gastric polyps Retrognathia Increased serum lactate Recurrent urinary tract infections Decreased testicular size Peripheral axonal neuropathy Focal-onset seizure Generalized tonic-clonic seizures Hyperactivity Epileptic encephalopathy Myoclonus Decreased body weight Areflexia Visual loss Memory impairment Paraplegia CSF lymphocytic pleiocytosis Autoamputation Rocker bottom foot Intellectual disability, progressive Muscular hypotonia of the trunk Cerebral cortical atrophy Cerebral visual impairment Glaucoma Paraparesis Spastic paraparesis Slurred speech Hepatic fibrosis Abnormal intestine morphology Akinesia Celiac disease Abnormality of visual evoked potentials Myelodysplasia Lactic acidosis Severe global developmental delay Clumsiness Lymphocytosis Basal ganglia calcification Vegetative state Morphological abnormality of the pyramidal tract Status epilepticus Talipes equinovarus Acrocyanosis Progressive neurologic deterioration Prolonged neonatal jaundice Intellectual disability, profound Congenital glaucoma Cholestasis Systemic lupus erythematosus Poor head control Progressive microcephaly Postnatal microcephaly Diffuse cerebral atrophy Hyperkinesis Papilledema Methylmalonic aciduria Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Episodic ataxia Neutral hyperaminoaciduria Bruxism Gingivitis Delusions Irregular hyperpigmentation Insomnia Hypopigmented skin patches Grasp reflex Muscle weakness Inflammatory abnormality of the skin Hypothyroidism Dysmetria Nausea and vomiting Abnormal pyramidal sign Hyperlordosis Facial palsy Osteopenia Weight loss High palate Diabetes mellitus Constipation Hyporeflexia Kyphosis Respiratory insufficiency Short neck Frontal bossing Aminoaciduria Cutaneous photosensitivity Sudden cardiac death Cranial nerve paralysis Melanocytic nevus Chorioretinal coloboma Melanoma Arnold-Chiari malformation Renal hypoplasia/aplasia Venous thrombosis Generalized hirsutism Abnormality of neuronal migration Abnormality of retinal pigmentation Thickened skin Dandy-Walker malformation Nevus Mental deterioration Behavioral abnormality Ventriculomegaly Aplasia/Hypoplasia of the cerebellum Generalized hyperpigmentation Psychosis Gait ataxia Abnormal blistering of the skin Hepatic steatosis Unsteady gait Malabsorption Anxiety Photophobia Numerous congenital melanocytic nevi Syringomyelia Choroid plexus papilloma Papilloma Astrocytoma Meningioma Spinal cord compression Meningocele Arachnoid cyst Sleep disturbance Chorea Abnormality of coagulation Generalized dystonia Fasting hypoglycemia Decreased plasma carnitine Dilation of lateral ventricles Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Malignant hyperthermia Retinal hemorrhage Bulbar palsy Opisthotonus Malnutrition Joint dislocation Exercise intolerance Large fontanelles Infantile encephalopathy Glutaric aciduria Delayed myelination Severe vision loss Acute necrotizing encephalopathy Necrotizing encephalopathy Abnormal muscle tone Abducens palsy Abnormal posturing Cerebral edema Foot dorsiflexor weakness Glutaric acidemia Polyneuropathy Pallor Visual impairment Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Dehydration Abnormal cerebellum morphology Hypotension Oral-pharyngeal dysphagia Megalencephaly Poor coordination Drowsiness Muscle fibrillation Bowel incontinence Dysphasia Self-injurious behavior Bulbar signs Precocious puberty Dysphonia Sleep apnea Abnormal autonomic nervous system physiology Muscle stiffness Clonus Amenorrhea Hypothermia Aqueductal stenosis Metabolic acidosis Cardiomyopathy Dyskinesia Inability to walk Stroke Respiratory tract infection Prominent forehead Myopathy Abnormal facial shape Hypersomnia Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypoplastic spleen



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Metabolic acidosis, related diseases and genetic alterations Hepatomegaly and Coarctation of aorta, related diseases and genetic alterations Fever and Cirrhosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more