Cerebral Calcification: Causes & Reasons

Possible Causes for Cerebral Calcification

LETTERS Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome Leucoencefalopatia com cistos e calcificações cerebrais: síndrome de Labrune André Luiz [scielo.br]

Hadley And 6 others Standard Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre [research.manchester.ac.uk]

We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. [ncbi.nlm.nih.gov]

Raine Syndrome

In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660). [ncbi.nlm.nih.gov]

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660). / Whyte, Michael P.; McAlister, [experts.umn.edu]

[…] a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification. [biochem.slu.edu]

Cystinosis

calcifications or atrophy, swallowing dysfunction, diabetes mellitus, and liver disease (eg, hepatomegaly, nodular degenerative hyperplasia). [emedicine.medscape.com]

calcifications; muscular and swallowing difficulties Laboratory tests The following laboratory studies may be used to assess patients suspected of having cystinosis: Serum [emedicine.medscape.com]

[…] few years of diagnosis, after age 15 years The major complication of nephropathic cystinosis in patients older than 20 years is legal blindness, distal vacuolar myopathy, cerebral [emedicine.medscape.com]

Autosomal Recessive Osteopetrosis Type 3

Key words Osteopetrosis - Renal acidosis - Cerebral calcification - Carbonic anhydrase deficiency [thieme-connect.com]

The carbonic anhydrase II deficiency syndrome: Osteopetrosis with renal tubular acidosis and cerebral calcification. [indianjnephrol.org]

Figure 1: Computerized tomography scan of the brain showing intra-cerebral calcifications. [sjkdt.org]

Labrune Syndrome

LETTERS Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome Leucoencefalopatia com cistos e calcificações cerebrais: síndrome de Labrune André Luiz [scielo.br]

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. [scielo.br]

Keywords: Labrune syndrome, leukoencephalopathy, cerebral calcifications, cysts Introduction Leukoencephalopathy, cerebral calcifications, and cysts (LCC) form a very rare [ncbi.nlm.nih.gov]

Revesz Syndrome

calcifications, extensor hypertonia, and progressive psychomotor retardation. [cags.org.ae]

calcification, cerebellar hypoplasia and psychomotor retardation. [doaj.org]

It is characterized by intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, bilateral exudative retinopathy, cerebral calcification [scielo.br]

Tuberous Sclerosis

Recently, a new discovery opened the possibility of using vitamin D (VitD) for treating cerebral calcifications. [ncbi.nlm.nih.gov]

[…] cortex, retinal tumors, depigmented leaf-shaped macules on the skin, tumors of the heart or kidneys, and cerebral calcifications. [medical-dictionary.thefreedictionary.com]

Logistic regression analysis showed that calcification in the cerebral parenchyma was a risk factor of pharmacoresistant epilepsy [P = 0.006, odds ratio (OR) = 4.831 (1.577 [ncbi.nlm.nih.gov]

Infantile Choroidocerebral Calcification Syndrome

Diseases related with Seizures and Cerebral calcification In the following list you will find some of the most common rare diseases related to Seizures and Cerebral calcification [mendelian.co]

[…] disability and Cerebral calcification that can help you solving undiagnosed cases. [mendelian.co]

Diseases related with Strabismus and Cerebral calcification In the following list you will find some of the most common rare diseases related to Strabismus and Cerebral calcification [mendelian.co]

Bonnemann-Meinecke-Reich Syndrome

Autosomal recessive hereditary disorder Cerebral calcification (disorder) Degeneration of retina Hereditary disorder of nervous system Hereditary disorder of the visual system [snomedbrowser.com]

calcification cerebellar hypoplasia Cerebral calcifications opalescent teeth phosphaturia Cerebral gigantism jaw cysts Cerebral malformations hypertrichosis claw hands Cerebral [en.wikipedia.org]

Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. [link.springer.com]

Hoyeraal-Hreidarsson Syndrome

calcifications; and • Genetic testing for the DKC1. [secure.ssa.gov]

Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging. [orpha.net]

calcifications Molecular genetic testing – for confirmation Treatment[edit] Current treatment is supportive:[citation needed] The aplastic anemia and immunodeficiency can [en.wikipedia.org]

Proximal Renal Tubular Acidosis

calcification. [link.springer.com]

We describe a 16-year-old female with persistent isolated proximal renal tubular acidosis, cerebral calcification, mental retardation, band keratopathy, cataracts, glaucoma [ncbi.nlm.nih.gov]

Mutations in carbonic anhydrase II gene lead to osteopetrosis, RTA (pRTA, distal RTA or combined proximal and distal RTA), cerebral calcification, and mental retardation. [ncbi.nlm.nih.gov]

Spondyloenchondrodysplasia

Seven individuals had CNS manifestations including spasticity, developmental delay, and late-onset cerebral calcifications. [ncbi.nlm.nih.gov]

Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency [ncbi.nlm.nih.gov]

Definition A disease characterized by vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases. [uniprot.org]

Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

Diseases related with Hydrocephalus and Cerebral calcification In the following list you will find some of the most common rare diseases related to Hydrocephalus and Cerebral [mendelian.co]

calcification Splenomegaly Tibial bowing Upslanted palpebral fissure (Source: Game Friedman Paradice Syndrome; Genetic and Rare Diseases Information Center (GARD) of National [dovemed.com]

calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514 10 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744 11 upslanted palpebral fissure 58 [malacards.org]

TORCH Syndrome

Considering the diagnosis of pseudo-TORCH syndrome in patients with neonatal microcephaly and cerebral calcification is necessary since an early diagnosis may allow adequate [ncbi.nlm.nih.gov]

calcification, chorioretinitis, cataracts, microphthalmia, hearing impairment, mental retardation, autism and pneumonitis. [invitro-test.com]

calcifications, impaired neurodevelopment, microcephaly / macrocephaly, chorioretinitis, seizures). [dermnetnz.org]

Congenital Toxoplasmosis

Congenital toxoplasmosis was suspected after finding hydrocephalus, cerebral calcification, and chorioretinitis. [ncbi.nlm.nih.gov]

Fetal ultrasound scan already showed mild asymmetrical triventricular hydrocephaly and cerebral calcifications. [ncbi.nlm.nih.gov]

The symptoms were observed in 12 (80.0%) children and the most frequent were cerebral calcification in 9 (60.0%), chorioretinitis in 8 (53.3%), and hydrocephalus in 4 (26.6% [ncbi.nlm.nih.gov]

Congenital Malabsorption of Folic Acid

Lanzkowsky P, Erlandson ME, Bezan AI (1969) Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. [link.springer.com]

Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification. Blood. 1969;34:452–65. PubMed Google Scholar 4. Lanzkowsky P. [doi.org]

Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications [link.springer.com]

Sturge-Weber Syndrome

AIM: To evaluate clinical and metabolic correlates of cerebral calcifications in children with Sturge-Weber syndrome (SWS). [ncbi.nlm.nih.gov]

These included cerebral atrophy (81.82%), cerebral calcification (54.55%), leptomeningeal angioma (27.27%), and enlarged choroidal plexus (27.27%). [ncbi.nlm.nih.gov]

In 1912 Weber and Volland described the intracranial calcification. Radiographic identification of cerebral calcification was first described by Dimitri in 1922 2,18,20. [radiopaedia.org]

Renal Tubular Acidosis

Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal [ncbi.nlm.nih.gov]

Abstract Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. [doi.org]

There is no treatment for the osteopetrosis or cerebral calcification. Type 3 is rarely discussed. [en.wikipedia.org]

Osteopetrosis

Figure 1: Computerized tomography scan of the brain showing intra-cerebral calcifications. [sjkdt.org]

His osteopetrosis has resolved, and he has no evidence by CT scan of cerebral calcification. [bloodjournal.org]

Cerebral calcifications are in the caudate nucleus, putamen, globus pallidus, and peripherally in the subcortical region. [annsaudimed.net]

Oculo-Osteo-Cutaneous Syndrome

calcification Berylliosis Besnier-Boeck-Schaumann disease Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia [bioreference.net]

calcification Berylliosis Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta-thalassemia [en.wikipedia.org]

Benign recurrent intrahepatic cholestasis 2 Benign rolandic epilepsy (BRE) Berger disease Beriberi Berk-Tabatznik syndrome Berry aneurysm cirrhosis pulmonary emphysema and cerebral [personalizedcause.com]

Celiac Disease with Diffuse Intestinal Ulceration

calcification syndrome Celiac infantilism Celiac rickets Cerebral calcification Congenital celiac disease Gluten sensitivity Infantilism Megaloblastic anemia due to disease [icdlist.com]

Synonyms Acquired celiac disease Adult form of celiac disease Celiac crisis Celiac disease Celiac disease with diffuse intestinal ulceration Celiac disease with epilepsy and cerebral [icdlist.com]

Primrose Syndrome

Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. [orpha.net]

A variety of neurological signs and symptoms have been reported including hearing loss, autism, behavioral abormalities, hypotonia, cerebral calcifications, and hypoplasia [ncbi.nlm.nih.gov]

Mucopolysaccharidosis-plus Syndrome

Desarrollado de la mano de expertos clínicos del mundo de la reproducción y de la genética. Porque lo que realmente nos importa es contribuir a que tengamos niños sanos nuestro test qCarrier Plus minimiza al máximo el riesgo residual de cada uno de los más de 300 genes estudiados. Ver lista de genes Un test de[…] [qgenomics.com]

Idiopathic Basal Ganglia Calcification Type 1

Syndrome (formerly); Bilateral striopallidodentate calcinosis; BSPDC; Cerebral calcification nonarteriosclerotic idiopathic adult-onset; Striopallidodentate calcinosis autosomal [rarediseases.info.nih.gov]

Familial idiopathic cerebral calcifications. J Neurol Neurosurg Psychiatry. 1977;40:280–5. [ncbi.nlm.nih.gov]

Showing of 37 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormality of neuronal migration 0002269 Cerebral calcification Abnormal [rarediseases.info.nih.gov]

Familial Capillaro-Venous Leptomeningeal Angiomatosis

Clinical and metabolic correlates of cerebral calcifications in Sturge-Weber syndrome. [scielo.senescyt.gob.ec]

Celiac Disease-Epilepsy-Cerebral Calcification Syndrome

When performing a brain tomography, bilateral occipital pyriform calcifications were evidenced, establishing the diagnosis of celiac disease, epilepsy and cerebral calcifications [pesquisa.bvsalud.org]

calcifications (CC). [orpha.net]

Abstract The syndrome of coeliac disease, epilepsy and cerebral calcifications is a rare complication of coeliac disease. [pubmed.ncbi.nlm.nih.gov]

Dihydropteridine Reductase Deficiency

Abstract Atypical phenylketonuria among infants with hyperphenylalaninemia must be promptly diagnosed and differentiated from classical phenylketonuria, because these patients require different treatment to prevent irreversible neurological damage. Measurement of pteridines in urine by liquid chromatography has[…] [ncbi.nlm.nih.gov]

Autosomal Dominant Dyskeratosis Congenita Type 3

Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti (EXTRA DPCM) Queste ultime sono presenti nel Registro a scopo[…] [malattierare.toscana.it]

Childhood-Onset Idiopathic Basal Ganglia Calcification

Bilateral Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset Fahr Disease, Familial Ferrocalcinosis [wikidata.org]

The exact mechanism of the cerebral calcification for our patient was unknown. [ajnr.org]

Name Basal Ganglia Calcification, Idiopathic, Childhood-Onset Synonyms CEREBRAL CALCIFICATION, NONARTERIOSCLEROTIC, IDIOPATHIC, CHILDHOOD-ONSET, IBGC, CHILDHOOD-ONSET, STRIOPALLIDODENTATE [mousephenotype.org]

Bellini-Chiumello-Rinoldi Syndrome

[…] syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Beriberi Berlin Breakage syndrome Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral [bionity.com]

calcification Berylliosis Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta-thalassemia [en.wikipedia.org]