Choroid plexus calcification and impaired intellectual development

Preferred Label : Choroid plexus calcification and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Choroid plexus calcification and mental retardation;

Description : Of the 7 children of parents related as half first cousins, 1 boy died during a convulsion at age 2 months and the other 6, born between 1925 and 1935, had severe mental retardation and extensive calcification of the choroid plexus (Lott et al., 1979). Strabismus, hyperactive deep tendon reflexes, Babinski sign, and lalling speech were other clinical features. ('Lalling speech,' an archaic expression, was used by Friedman and Roy (1944) in first reporting this family.) CSF protein concentration was 2-3 times normal. Neuropathologic studies were done in 1 sib, who died at age 26 years of cardiovascular collapse, possibly due to an abrupt withdrawal of corticosteroids given for bronchial asthma; autopsy showed severe bilateral adrenal atrophy. Small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils were found. Lott et al. (1979) postulated a hereditary disorder of the choroid plexus. In the 1 patient studied, the choroid plexus failed to take up radiolabeled (99m)Tc-pertechnetate. The only other report of this disorder seems to be that by Singh et al. (1993). Three sibs in a Saudi family had mental retardation, calcification of the choroid plexus, and increased CSF protein. *FIELD* RF 1. Friedman, A. P.; Roy, J. E.: An unusual familial syndrome. J. Nerv. Ment. Dis. 99: 42-44, 1944. 2. Lott, I. T.; Williams, R. S.; Schnur, J. A.; Hier, D. B.: Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein. Neurology 29: 1571-1577, 1979. 3. Singh, B.; Jamil, A.; Al-Shahwan, S. A.; Sharif, H.; Al-Deeb, S. M.; Biary, N.: Choroido-cerebral calcification syndrome with retardation. Neurology 43: 2387-2389, 1993. *FIELD* CS Neuro: Severe mental retardation; Seizures; Hyperactive deep tendon reflexes; Babinski sign Voice: 'Lalling' speech Radiology: Choroid plexus calcification;

Inheritance : Autosomal recessive;

Prefixed ID : 215480;

Details

Origin ID

215480;

UMLS CUI

C1859092;

Currated CISMeF NLP mapping
- Choroid plexus calcification with mental retardation [MeSH concept]
- Infantile choroidocerebral calcification syndrome [ORDO Disease]
- Infantile choroidocerebral calcification syndrome (disorder) [SNOMED CT concept]
- choroid plexus calcification with mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the voice [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Choroid plexus calcification [HPO term]
- Hyperactive deep tendon reflexes [HPO term]
- Increased CSF protein [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Infantile choroidocerebral calcification syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Choroid plexus calcification with mental retardation [MeSH concept]
- Infantile choroidocerebral calcification syndrome [ORDO Disease]
- Infantile choroidocerebral calcification syndrome (disorder) [SNOMED CT concept]
- choroid plexus calcification with mental retardation [MeSH Supplementary Concept]

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