Cognitive impairment, and Ventriculomegaly

Diseases related with Cognitive impairment and Ventriculomegaly

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


Top matches:

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

Low match JOUBERT SYNDROME 31; JBTS31


Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 31; JBTS31

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A


Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

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Other less relevant matches:

Low match LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6


Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Low match MOYAMOYA DISEASE


Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.

MOYAMOYA DISEASE Is also known as idiopathic moyamoya disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ventriculomegaly
  • Headache
  • Mental deterioration


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA DISEASE

Low match FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED


Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; {600274}) which shows variable phenotypic expression, but most commonly presents with social, behavioral, or language deterioration, rather than memory or motor deficits. Other variations of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease (AD ) or Parkinson disease (PD ), which are part of the phenotypic spectrum of this disorder (Brouwers et al., 2007). Genetic Heterogeneity of FTLD-TDPThe specific presence of TDP43 (TARDBP )-positive inclusions on neuropathologic examination defines a genetically heterogeneous group of dementias known collectively as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al., 2010).TDP43-positive inclusions also occur in ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ); IBMPFD (OMIM ), caused by mutation in the VCP gene (OMIM ); and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ).Mackenzie and Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology and genetic heterogeneity of FTLD, including FTLD-TDP, and also noted that FTLDU is now referred to as FTLD-TDP.

FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED Is also known as dementia, hereditary dysphasic disinhibition|ftld-tdp, grn-related|frontotemporal dementia with tdp43 inclusions, grn-related|ftldu|frontotemporal lobar degeneration with ubiquitin-positive inclusions|frontotemporal dementia, ubiquitin-positive|ftdu|hddd

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dysphagia
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5


MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

Low match HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA


Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA Is also known as dementia, familial, neumann type|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|fpsg|familial progressive subcortical gliosis|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|pold|alsp|pigmentary orthochromatic

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY DIFFUSE LEUKOENCEPHALOPATHY WITH AXONAL SPHEROIDS AND PIGMENTED GLIA

Low match CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY


Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY Is also known as clwm

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Low match HYDROCEPHALUS, CONGENITAL, 1; HYC1


Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

Top 5 symptoms//phenotypes associated to Cognitive impairment and Ventriculomegaly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Ventriculomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Frontotemporal dementia Progressive neurologic deterioration Motor delay Leukoencephalopathy Hyperreflexia Hypoplasia of the corpus callosum Cerebral atrophy Behavioral abnormality Abnormality of the cerebral white matter Neurofibrillary tangles Dementia Cerebral cortical atrophy Rigidity Alzheimer disease Neurodegeneration Gliosis Personality changes Neuronal loss in central nervous system

Rare Symptoms - Less than 30% cases


Astrocytosis Leukodystrophy Microcephaly Severe global developmental delay Inappropriate behavior Pachygyria Polymicrogyria Apraxia Senile plaques Dilation of lateral ventricles Headache Stroke Hemiparesis Tremor Parkinsonism Mutism Memory impairment Dysphagia Brain atrophy Perseveration Hyperorality Aphasia Polyphagia Apathy Irritability Language impairment Disinhibition Macrocephaly Nystagmus Atrophy/Degeneration affecting the brainstem Bradykinesia Insomnia Shuffling gait Decreased number of peripheral myelinated nerve fibers Muscle stiffness Abnormality of extrapyramidal motor function CNS demyelination Cerebellar atrophy Peripheral demyelination Postural instability Vegetative state Abnormal pyramidal sign Difficulty walking Depressivity Gait disturbance Pigmentary retinopathy Increased serum lactate Delayed myelination Lactic acidosis Retinopathy Developmental regression Confusion Diffuse leukoencephalopathy Restless legs Neoplasm Intraventricular hemorrhage Hydranencephaly Dilated fourth ventricle Aqueductal stenosis Communicating hydrocephalus Arnold-Chiari malformation Spontaneous abortion Prominent forehead Dilatation Vomiting Blindness Intellectual disability, severe Hydrocephalus Nonprogressive encephalopathy Elevated serum creatine phosphokinase Doll-like facies Focal white matter lesions Abnormal CNS myelination Abnormal myelination Athetosis Cerebral calcification Poor speech Encephalopathy Dystonia Delayed speech and language development Sensorineural hearing impairment Hearing impairment Frontal release signs Frontal lobe dementia Acidosis Hypersexuality Feeding difficulties Strabismus Telangiectasia Involuntary movements Semantic dementia Emotional blunting Generalized hypotonia Limb hypertonia Partial agenesis of the corpus callosum Cortical gyral simplification Lissencephaly Heterotopia Sloping forehead Abnormality of eye movement Intracranial hemorrhage Agenesis of corpus callosum Hypertonia Truncal ataxia Abnormal facial shape Oculomotor apraxia Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Motor deterioration Megalencephaly Molar tooth sign on MRI Dysarthria Progressive cerebellar ataxia Ischemic stroke Abnormality of the vasculature Repetitive compulsive behavior Agitation Diminished motivation Limb apraxia Progressive language deterioration Bulimia Dyscalculia Stereotypy Dysgraphia Dyslexia Lewy bodies Restlessness Dysphasia Global brain atrophy Amyotrophic lateral sclerosis Transient ischemic attack Impulsivity Akinesia Hallucinations Limb ataxia Clumsiness Echolalia Primitive reflex Paralysis Myoclonus Inappropriate laughter Carotid artery stenosis Abnormality of the cerebral vasculature Normal pressure hydrocephalus



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