Hydrocephalus, and Mental deterioration

Diseases related with Hydrocephalus and Mental deterioration

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

Top matches:

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

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STURGE-WEBER SYNDROME; SWS

Other less relevant matches:

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

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

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Mental deterioration

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Behavioral abnormality Generalized hypotonia Macrocephaly Dementia EEG abnormality Cerebellar hypoplasia Ataxia Neurodegeneration Arnold-Chiari malformation Irritability Polymicrogyria Cerebral cortical atrophy Muscular hypotonia Hemiparesis Motor delay Intellectual disability, severe

Rare Symptoms - Less than 30% cases

Flexion contracture Progressive neurologic deterioration Abnormal cerebellum morphology Encephalopathy Microcephaly Dandy-Walker malformation Leukoencephalopathy Hyperreflexia Aggressive behavior Nevus Aplasia/Hypoplasia of the cerebellum Cerebral atrophy Myoclonus Developmental regression Gait ataxia Choreoathetosis Stroke Abnormality of the cerebral white matter Prominent forehead Personality changes Normal pressure hydrocephalus Headache Blindness Gliosis Cataract Neoplasm Basal ganglia calcification Gait disturbance Muscular dystrophy Severe global developmental delay Cerebral calcification Memory impairment Apraxia Acute leukemia Abnormality of epiphysis morphology Cerebral edema Senile plaques Bone pain Neurofibrillary tangles Oculomotor apraxia Reduced bone mineral density Axonal loss Abnormality of the hand Alzheimer disease Pathologic fracture Skeletal dysplasia Peripheral demyelination Moderately reduced ejection fraction Limb-girdle muscular dystrophy Gowers sign Skeletal muscle hypertrophy Calf muscle hypertrophy Generalized amyotrophy Spinal rigidity Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Abnormal glycosylation Hypoglycosylation of alpha-dystroglycan Fatty replacement of skeletal muscle Muscle fiber hypertrophy Urinary incontinence Reduced muscle fiber merosin Pain Hypoplasia of the corpus callosum Edema Babinski sign Bone cyst Arthralgia Neurological speech impairment Leukemia Abnormality of the foot Abnormality of movement Chorea Limitation of joint mobility Disinhibition Generalized hirsutism Primitive reflex High forehead Meningioma Astrocytoma Papilloma Choroid plexus papilloma Numerous congenital melanocytic nevi Scoliosis Strabismus Sensorineural hearing impairment Cryptorchidism Inguinal hernia Mandibular prognathia Coarse facial features Meningocele Difficulty walking Deeply set eye Protruding ear Wide mouth Long face Thick vermilion border Prominent nose Narrow face Pointed chin Self-injurious behavior High-frequency hearing impairment Spinal cord compression Arachnoid cyst Inappropriate behavior Abnormality of retinal pigmentation Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Functional abnormality of the gastrointestinal tract Caudate atrophy Abnormal adipose tissue morphology Lack of insight Euphoria Hypertension Abnormality of the nervous system Thickened skin Reduced tendon reflexes Syringomyelia Cranial nerve paralysis Venous thrombosis Renal hypoplasia/aplasia Melanoma Increased intracranial pressure Encephalitis Intracranial hemorrhage Chorioretinal coloboma Melanocytic nevus Abnormality of neuronal migration Generalized hyperpigmentation Infantile muscular hypotonia Hypohidrosis Scapular winging Choroidal hemangioma Cognitive impairment Glaucoma Cafe-au-lait spot Hemangioma Congenital glaucoma Nevus flammeus Abnormality of the vasculature Buphthalmos Stroke-like episode Facial hemangioma Arachnoid hemangiomatosis Gray matter heterotopias Visual impairment Peripheral neuropathy Tremor Myopathy Recurrent infections Depressivity Reduced visual acuity Rigidity Anxiety Paralysis Right hemiplegia Type II lissencephaly Confusion Spastic paraplegia Vomiting Dilatation Spontaneous abortion Communicating hydrocephalus Aqueductal stenosis Dilated fourth ventricle Hydranencephaly Intraventricular hemorrhage Hearing impairment Optic atrophy Paraplegia Porencephalic cyst Coma Tetraplegia Spastic tetraplegia Encephalocele Heterotopia Absence seizures Lissencephaly Hemiplegia Hypoplasia of the brainstem Infantile spasms Occipital encephalocele Abnormal pyramidal sign Unsteady gait Frequent falls Talipes equinovarus Broad thumb Hypoplasia of dental enamel Abnormality of dental enamel Coarse hair Amelogenesis imperfecta Abnormality of dental color Yellow-brown discoloration of the teeth Growth delay Muscle weakness Skeletal muscle atrophy Pectus excavatum Intellectual disability, profound Hyporeflexia Elevated serum creatine phosphokinase Pes cavus Proximal muscle weakness Myalgia Hyperlordosis Dilated cardiomyopathy Falls Tachycardia Waddling gait Lumbar hyperlordosis Cerebellar vermis hypoplasia Hypsarrhythmia Neuronal loss in central nervous system Delusions Hallucinations Cerebral visual impairment Truncal ataxia Language impairment Apathy Aphasia Blurred vision Visual field defect Muscle fibrillation Increased CSF protein Visual hallucinations Epileptic encephalopathy Supranuclear gaze palsy Dysesthesia Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Short stature Failure to thrive Absent speech Upslanted palpebral fissure Smooth philtrum Focal-onset seizure Abnormality of the basal ganglia


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