Visual impairment, and Brain atrophy

Diseases related with Visual impairment and Brain atrophy

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


Top matches:

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F


Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

Low match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1


IECEE1 is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and resulting in severe to profound intellectual disability with poor or absent speech. Most patients never achieve independent walking. Patients typically have onset of refractory multifocal seizures between the first weeks and years of life, and some may show developmental regression. Additional features, such as hypotonia and cortical visual impairment, are more variable (summary by Myers et al., 2017). Genetic Heterogeneity of Infantile or Early Childhood Epileptic EncephalopathySee also IECEE2 (OMIM ), caused by mutation in the GABRB2 gene (OMIM ) on chromosome 5q34, and IECEE3 (OMIM ), caused by mutation in the ATP6V1A gene (OMIM ) on chromosome 3q13.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1; IECEE1

Low match PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE


Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.

PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE Is also known as epmr|ncl, northern epilepsy variant|epilepsy, progressive, with mental retardation|neuronal ceroid lipofuscinosis, northern epilepsy variant|cln8 disease, northern epilepsy variant|northern epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cerebellar atrophy
  • Behavioral abnormality
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE

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Other less relevant matches:

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B


Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

Low match HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION


HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION Is also known as harp syndrome

Related symptoms:

  • Spasticity
  • Dysarthria
  • Dysphagia
  • Blindness
  • Dystonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION

Low match SCHIZENCEPHALY


Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCHIZENCEPHALY

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A


Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative disorder without retinal involvement. There are 2 overlapping phenotypes: type A, characterized by progressive myoclonic epilepsy, and type B, characterized by dementia and a variety of motor-system signs (summary by Arsov et al., 2011).In general, the neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). The ultrastructural pattern of lipopigment in CLN4 comprises a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' profiles. (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Blindness
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE; CLN4A

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as jansky-bielschowsky disease|ceroid lipofuscinosis, neuronal, 2, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16


Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16

Top 5 symptoms//phenotypes associated to Visual impairment and Brain atrophy

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Cerebral atrophy Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Brain atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Microcephaly Myoclonus Encephalopathy Blindness Developmental regression Dystonia Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Dementia Nevus Mental deterioration Visual loss Epileptic encephalopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Cerebellar atrophy Muscular hypotonia of the trunk Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Abnormality of extrapyramidal motor function Ataxia Hypertonia Absent speech Babinski sign Rod-cone dystrophy Retinopathy Hemiparesis Progressive neurologic deterioration Progressive visual loss Focal-onset seizure Optic atrophy Ventriculomegaly Inability to walk EEG abnormality Progressive microcephaly Strabismus Behavioral abnormality Retinal degeneration Status epilepticus Neuronal loss in central nervous system Delayed myelination Porencephalic cyst Confusion Ichthyosis Bradykinesia Aplasia/Hypoplasia of the corpus callosum Scoliosis Failure to thrive No social interaction Schizencephaly Leukoencephalopathy Hypertrichosis Intrauterine growth retardation Hearing impairment Depressivity Abnormal electroretinogram Athetosis Motor deterioration Severe muscular hypotonia Postnatal microcephaly Cutaneous photosensitivity Generalized myoclonic seizures Abnormal pyramidal sign Increased extraneuronal autofluorescent lipopigment Abnormal nervous system electrophysiology Mitochondrial encephalopathy Retinal thinning Undetectable electroretinogram Visual hallucinations Atonic seizures Tetraparesis Neurodegeneration Retinal detachment Delayed speech and language development Granular osmiophilic deposits (GROD) in cells Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Auditory hallucinations Vegetative state Holoprosencephaly Dysphagia Spastic tetraplegia Irritability Cerebellar hypoplasia Hypoplasia of the corpus callosum Feeding difficulties Restlessness Focal impaired awareness seizure Intellectual disability, progressive Clumsiness Psychosis Generalized tonic-clonic seizures Multifocal seizures Chorea Multifocal epileptiform discharges Cerebral visual impairment Hypsarrhythmia Unsteady gait Talipes Abnormal facial shape Hypertelorism Hyperreflexia Motor delay Dyskinesia Sloping forehead Tetraplegia Acanthocytosis Paralysis Agenesis of corpus callosum Dilatation Hydrocephalus Pallidal degeneration Eye of the tiger anomaly of globus pallidus Decreased LDL cholesterol concentration Tapetoretinal degeneration Orofacial dyskinesia Abnormal retinal morphology Involuntary movements Pigmentary retinopathy Nyctalopia Dysarthria Extrapyramidal dyskinesia Limb hypertonia Cortical gyral simplification Opisthotonus Hypoplasia of the brainstem Poor suck Clonus Macular degeneration



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