We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy.
[ncbi.nlm.nih.gov]
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]
Read More A case of leukoencephalopathy, cerebral calcifications and cysts.
[pubfacts.com]
In 1986, this condition was entered into Mendelian Inheritance In Man (MIM) as osteomalacia, sclerosing, with cerebral calcification (MIM 259660).
[experts.umn.edu]
In 1985, we briefly reported infant sisters with a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification.
[ncbi.nlm.nih.gov]
[…] a unique, lethal, autosomal recessive disorder designated congenital sclerosing osteomalacia with cerebral calcification.
[biochem.slu.edu]
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]
[…] with renal tubular acidosis and cerebral calcification. 61 56 Sly WS...Tashian RE 6405388 1983 13 Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: evidence
[malacards.org]
Lack of enzyme activity results in osteopetrosis, tubular acidosis, and cerebral calcifications or so-called marble brain disease.
[symptoma.com]
56 Strisciuglio P...Sly WS 2107079 1990 16 The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. 56 Al Rajeh S...Ozaksoy D 3221988 1988
[malacards.org]
Read More A case of leukoencephalopathy, cerebral calcifications and cysts.
[pubfacts.com]
LETTERS Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome Leucoencefalopatia com cistos e calcificações cerebrais: síndrome de Labrune André Luiz
[scielo.br]
Calcifications are reported predominantly in basal ganglia but can also occur in cerebellum and cerebral cortex.[ 6 ] Parenchymal cysts can occur both in cerebral hemispheres
[ncbi.nlm.nih.gov]
calcifications, extensor hypertonia, and progressive psychomotor retardation.
[cags.org.ae]
Magnetic resonance imaging of the brain revealed multiple and diffuse abnormalities in both cerebral hemispheres, consistent with calcifications or hemosiderin deposits, and
[scielo.br]
Both twins developed bone marrow failure and were found to have cerebellar hypoplasia and widespread cerebral calcifications.
[ncbi.nlm.nih.gov]
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]
Celiac disease, posterior cerebral calcifications and epilepsy. Brain Dev 1992;14:23–29. 58.
[pelotti.altervista.org]
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]
[…] intellectual disability, severe 60 33 Very frequent (99-80%) HP:0010864 3 strabismus 60 33 Very frequent (99-80%) HP:0000486 4 hyperreflexia 60 Very frequent (99-80%) 5 cerebral
[malacards.org]
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]
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]
Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging.
[orpha.net]
calcifications.
[secure.ssa.gov]
TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING Diagnostic testing: Neuroimaging reports showing cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral
[secure.ssa.gov]
Infantile familial encephalopathy with cerebral calcifications and leukodystrophy.
[ncbi.nlm.nih.gov]
Autosomal recessive hereditary disorder Cerebral calcification (disorder) Degeneration of retina Hereditary disorder of nervous system Hereditary disorder of the visual system
[snomedbrowser.com]
calcification (disorder) {17944005, SNOMED-CT } Congenital anomaly of cerebrum (disorder) {702628006, SNOMED-CT } Congenital anomaly of retina (disorder) {49381001, SNOMED-CT
[phinvads.cdc.gov]
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]
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]
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 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]
calcification Abnormal deposits of calcium in the brain 0002514 Splenomegaly Increased spleen size 0001744 Tibial bowing Bowed shankbone Bowed shinbone [ more ] 0002982 Upslanted
[rarediseases.info.nih.gov]
There is no treatment for the osteopetrosis or cerebral calcification. Type 3 is rarely discussed.
[en.wikipedia.org]
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]
Seven individuals had CNS manifestations including spasticity, developmental delay, and late-onset cerebral calcifications.
[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]
Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency
[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]
AIM: To evaluate clinical and metabolic correlates of cerebral calcifications in children with Sturge-Weber syndrome (SWS).
[ncbi.nlm.nih.gov]
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]
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]
The Primerose syndrome with progressive neurological involvement and cerebral calcification. J Neurol. 2002; Primrose Syndrome.
[rarediseases.info.nih.gov]
His osteopetrosis has resolved, and he has no evidence by CT scan of cerebral calcification.
[bloodjournal.org]
Figure 1: Computerized tomography scan of the brain showing intra-cerebral calcifications.
[sjkdt.org]
Cerebral calcifications are in the caudate nucleus, putamen, globus pallidus, and peripherally in the subcortical region.
[annsaudimed.net]
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]
calcification Prognosis: survival beyond middle age is uncommon (death due to recurrent infection, massive hemorrhage, terminal leukemia) Benign adult autosomal dominant
[learningradiology.com]
This type of osteopetrosis is associated with renal tubular acidosis and cerebral calcification.
[boneandspine.com]
Intermediate severity form (IRO) : Infantile osteopetrosis with distal renal tubular acidosis and cerebral calcifications ("marble brain syndrome").
[roentgenrayreader.blogspot.com]
Patients were evaluated for height and weight; thyroid, pulmonary, and swallowing function; muscle atrophy; hypogonadism (in men); retinopathy; vascular and cerebral calcifications
[ncbi.nlm.nih.gov]
calcifications or atrophy, swallowing dysfunction, diabetes mellitus, and liver disease (eg, hepatomegaly, nodular degenerative hyperplasia).
[emedicine.medscape.com]
(31%), diabetes mellitus (24%), or cerebral calcifications (22%).
[annals.org]
calcification cerebellar hypoplasia Cerebral calcifications opalescent teeth phosphaturia Cerebral gigantism jaw cysts Cerebral malformations hypertrichosis claw hands Cerebral
[en.wikipedia.org]
Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification[?] Berylliosis Besnier-Boeck-Schaumann disease[?] Beta ketothiolase deficiency[?]
[encyclopedia.kids.net.au]
calcification Berylliosis Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta-thalassemia
[ipfs.io]
Manifestations of congenital toxoplasmosis can include hydrocephalus, mental retardation, cerebral calcification, and chorioretinitis.
[coursera.org]
CONGENITAL TOXOPLASMOSIS Cerebral calcification leading to convulsion Bilateral healed chorioretinal scars: central vision jeopardized Hydrocephalus Microcephaly
[slideshare.net]
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal
[nectarmutation.org]
calcification Myoclonus Behavioral abnormality Personality changes Fever Arthralgia Memory impairment Rare Symptoms - Less than 30% cases Hyperbilirubinemia Peripheral demyelination
[mendelian.co]
Brain computed tomography (CT) or magnetic resonance imaging (MRI) shows frontally accentuated atrophy of the cerebral white matter.
[orpha.net]
[…] syndrome Berardinelli-Seip congenital lipodystrophy Berdon syndrome Berger disease Beriberi Berlin Breakage syndrome Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral
[wikidoc.org]
Berardinelli-Seip congenital lipodystrophy * Berdon syndrome * Berger disease * Beriberi * Berlin Breakage syndrome * Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral
[en.academic.ru]
Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification[?] Berylliosis Besnier-Boeck-Schaumann disease[?] Beta ketothiolase deficiency[?]
[encyclopedia.kids.net.au]
calcification Berylliosis Besnier-Boeck-Schaumann disease Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia
[bioreference.net]
calcification Berylliosis Bes-Bet Besnier-Boeck-Schaumann disease Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia
[wikidoc.org]
calcification Berylliosis Beta ketothiolase deficiency Beta-galactosidase-1 deficiency Beta-mannosidosis Beta-sarcoglycanopathy Beta-thalassemia major anemia Beta-thalassemia
[en.wikipedia.org]
Associations renal tubular acidosis cerebral calcification Presentation in this, the more severe form of osteopetrosis, maybe at birth.
[radiopaedia.org]
Marble bone disease causes short stature, cerebral calcification and mental retardation.
[aafp.org]
