Phenotype #0000171381
| Individual ID |
00226253 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
00y07m |
| Diagnosis/Initial |
- |
| Age/Examination |
00y11m (11 months) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
- |
| Phenotype details |
Clinical history: developmental regression (HP:0002376), motor delay (HP:0001270), hepatosplenomegaly (HP:0001433), seizures (HP:0001250) and recurrent chest infections; patient required intubation twice (each time for six weeks) and has been fed by nasogastric tube since (HP:0011470);
At examination: impairment of visual localization and tracking, tactile and proprioceptive/vestibular sensory processing and cognitive abilities; mild hypertonia in upper limbs (HP:0200049), fair head control and poor trunk control; bilateral elbow gaiters and antispatic splints due to increased risk of falling; dysphagia (HP:0001215) with signs of aspiration;
Radiological examination: enlarged heart; ultrasonography at examination: liver normally sized with persistent mild echogenic and heterogenous parenchyma texture, spleen only partially visualized; MRI: bilateral subdural fluid collections with mass effect on brain parenchyma (more in right side) (collections appear bright in T2 and show partially higher intensity than CSF fluid in T1), evidence of resolving basal ganglia restricted diffusion with atrophy; For more information see full text |
| Protein |
- |
| Biochem |
glutarylcarnitine: 0.79 +/- 0.12 Umol/ |
| Enzyme/Activity |
- |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-03-05 13:03:15 +01:00 (CET) |
| Date last edited |
N/A |
|
