Hydrocephalus, and Cerebral atrophy

Diseases related with Hydrocephalus and Cerebral atrophy

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

Top matches:

Medium 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

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

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

Other less relevant matches:

Medium match NASU-HAKOLA DISEASE

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

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

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

Autosomal recessive osteopetrosis-5 is a form of infantile malignant osteopetrosis, characterized by defective osteoclast function resulting in decreased bone resorption and generalized osteosclerosis. Defective resorption causes development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. Marrow obliteration is associated with extramedullary hematopoiesis and hepatosplenomegaly, and results in anemia and thrombocytopenia, whereas nerve entrapment accounts for progressive blindness and hearing loss. Other major manifestations include failure to thrive, pathologic fractures, and increased infection rate. Most affected children succumb to severe bone marrow failure and overwhelming infection in the first few years of life (Quarello et al., 2004).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5 Is also known as osteopetrosis, infantile malignant 3

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5; OPTB5

Top 5 symptoms//phenotypes associated to Hydrocephalus and Cerebral atrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Cerebral cortical atrophy EEG abnormality Macrocephaly Long face Severe global developmental delay Motor delay Failure to thrive Dementia Cerebellar hypoplasia Spastic tetraplegia

Rare Symptoms - Less than 30% cases

Scoliosis Peripheral demyelination Gliosis Irritability Aggressive behavior Mandibular prognathia Myoclonus Hypoplasia of the corpus callosum Edema Frontal bossing High forehead Prominent forehead Gait ataxia Developmental regression Upslanted palpebral fissure Cerebral calcification Brain atrophy Pathologic fracture Basal ganglia calcification Axonal loss Thick vermilion border Cerebral edema Deeply set eye Hypertonia Hyperreflexia Difficulty walking Flexion contracture Abnormal facial shape Feeding difficulties Hypertelorism Tetraparesis Spastic tetraparesis Growth delay Proptosis Encephalopathy Hemiparesis Ataxia Behavioral abnormality Cognitive impairment Mental deterioration Arnold-Chiari malformation Absent speech Blindness Strabismus Intellectual disability, severe Megalencephaly Long fingers Long foot Communicating hydrocephalus Hepatic failure Slender build Long neck Metopic synostosis Expressive language delay Large hands Thick corpus callosum Severe expressive language delay Nystagmus Abnormality of skin pigmentation Short nose Long philtrum Disproportionate tall stature Bone marrow hypocellularity Increased bone mineral density Arachnodactyly Macrotia Absence of renal corticomedullary differentiation Kyphoscoliosis Pes planus Cranial hyperostosis Extramedullary hematopoiesis Joint laxity Hyperlordosis Prominent nasal bridge Generalized osteosclerosis Sparse eyebrow Osteopetrosis Arnold-Chiari type I malformation Abnormal cerebellum morphology Triangular face Overgrowth High myopia Severe vision loss Lumbar hyperlordosis Facial palsy Tall stature Craniosynostosis Full cheeks Feeding difficulties in infancy Muscular hypotonia Increased urinary sulfite Aplasia/Hypoplasia of the cerebellum Reduced xanthine dehydrogenase activity Self-injurious behavior Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Aldehyde oxidase deficiency Sensorineural hearing impairment Cryptorchidism Abnormality of the basal ganglia Inguinal hernia Coarse facial features Protruding ear Wide mouth Neurodegeneration Prominent nose Dandy-Walker malformation Choreoathetosis Narrow face Pointed chin High-frequency hearing impairment Hearing impairment Muscular hypotonia of the trunk Lens luxation Hepatosplenomegaly Thrombocytopenia Abnormality of metabolism/homeostasis Neuronal loss in central nervous system Progressive microcephaly Poor head control Hemiplegia Ectopia lentis Opisthotonus Myoclonic spasms Xanthine nephrolithiasis Optic atrophy Visual impairment Hypouricemia Abnormal muscle tone Increased urinary taurine Molybdenum cofactor deficiency Anemia Increased urinary hypoxanthine Xanthinuria Sulfite oxidase deficiency Decreased urinary sulfate Lactic acidosis Posteriorly rotated ears Abnormality of dental enamel Focal-onset seizure Epileptic encephalopathy Hypsarrhythmia Intellectual disability, profound Cerebellar vermis hypoplasia Progressive neurologic deterioration Broad thumb Hypoplasia of dental enamel Hypohidrosis Coarse hair Short stature Amelogenesis imperfecta Abnormality of dental color Yellow-brown discoloration of the teeth Pain Gait disturbance Babinski sign Skeletal dysplasia Arthralgia Neurological speech impairment Leukemia Smooth philtrum Arachnoid hemangiomatosis Abnormality of movement Stroke Dilatation Agenesis of corpus callosum Paralysis Inability to walk Tetraplegia Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Porencephalic cyst Schizencephaly Glaucoma Abnormality of the cerebral white matter Choroidal hemangioma Polymicrogyria Nevus Cafe-au-lait spot Hemangioma Congenital glaucoma Nevus flammeus Abnormality of the vasculature Buphthalmos Stroke-like episode Facial hemangioma Abnormality of the foot Chorea Malar flattening Poor suck Respiratory insufficiency Cardiomyopathy Acidosis Hypertrophic cardiomyopathy Apnea Respiratory tract infection Sleep disturbance Increased serum lactate Leukodystrophy Profound global developmental delay Lack of insight Hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Low-set ears High palate Delayed speech and language development Myopia Downslanted palpebral fissures Cerebellar atrophy Kyphosis Euphoria Abnormal adipose tissue morphology Limitation of joint mobility Alzheimer disease Urinary incontinence Memory impairment Apraxia Abnormality of epiphysis morphology Bone pain Oculomotor apraxia Leukoencephalopathy Reduced bone mineral density Abnormality of the hand Personality changes Neurofibrillary tangles Caudate atrophy Acute leukemia Senile plaques Disinhibition Bone cyst Primitive reflex Inappropriate behavior Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Functional abnormality of the gastrointestinal tract Decreased osteoclast count


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