Phenotype #0000000374
| Individual ID |
00000942 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y03m |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
Enlarged head circumference |
| Phenotype details |
Disease course: At age 06m hospitalization due to acute encephalopathic crisis (HP:0006846) with hypotonia (HP:0008947) and dystonia (HP:0001276) following mild upper respiratory infection; Examination upon admission: patient afebrile, irritable (HP:0000737) & very hypotonic, extreme weakness of neck muscles, tendon reflexes brisk, weight 3rd percentile, lenght 25th percentile, head circumference 75th percentile, anterior fontanel large and bulging, frontal bossing (HP:0002007), sunset eye phenomenon (HP:0012470), flat nasal bridge (HP:0005280), ocular fundi normal; Outcome thereafter: hypotonia with extremly poor head control (HP:0002421) and athetoid movements; Disease course: At age 01y01m: able to sit up and stand with support, hypotonia and athetoid movements greatly diminished, intellectual and social development satisfactory; At age 08y: Learning disability, normal muscle tone;
EEG(age 06m): borderline normal; CT(age 06m): symmetrical CSF collections over frontal lobes, widening of basal cisterns, normal ventricles, consistent with external hydrocephalus, cortical sulci sligtly prominent, marked regression of temporal lobes with marked dilation of Sylvian fissures ("bat-wing" form), insular cisterns dilated, diffuse hypodensity of basal ganglia (lenticular nuclei) bilaterally which were NOT apparent in CT done at age 03m; CT(age01y01m): marked diminuition in width of Sylvian fissures (particularly right side), narrowing of frontal subarachnoid spaces, hypodensity of lenticular nuclei less prominent, slight hypodensity of periventricular white matter, mild prominence of cortical sulci |
| Protein |
- |
| Biochem |
GA(urine) & 3-OH-GA(urine): excessively increased; carnitine(serum): marked deficiency |
| Enzyme/Activity |
Residual activity: undetectable (fibroblasts) |
| Owner name |
Katrin Hinderhofer |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Julia Lopez |
| Date created |
2013-04-17 17:21:21 +02:00 (CEST) |
| Date last edited |
2019-03-18 11:41:52 +01:00 (CET) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
