Coats Plus Syndrome
We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy.[ncbi.nlm.nih.gov]
Travis, Leukoencephalopathy, Cerebral Calcifications, and Cysts in Two Sisters, Pediatric Neurology, 51, 4, (576), (2014). Nicolas A. Yannuzzi, Jonathan H.[doi.org]
LETTERS Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome Leucoencefalopatia com cistos e calcificações cerebrais: síndrome de Labrune André Luiz[scielo.br]
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]
Calcification (OMIM 259660). ( 27862258 ) Whyte M.P....Mumm S. 2016 6 Report of a case of Raine syndrome and literature review. ( 25974638 ) Seidahmed M.Z....Alkuraya F.S[malacards.org]
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]
Hoyeraal-Hreidarsson Syndrome
Diagnostic methods Cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications have been reported on neuroimaging.[orpha.net]
calcifications.[en.wikipedia.org]
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]
Spondyloenchondrodysplasia
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]
SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations,[orpha.net]
Proximal Renal Tubular Acidosis
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]
calcification.[link.springer.com]
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]
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]
calcifications and/or eye disease, respectively.[ncbi.nlm.nih.gov]
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]
Calcified brain regions showed a variable degree of glucose hypometabolism with the metabolic abnormalities often extending to non-calcified cerebral lobes.[ncbi.nlm.nih.gov]
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]