Phenotype #0000173793
| Individual ID |
00231401 |
| Associated disease |
GA1 |
| Inheritance |
Familial, autosomal recessive |
| Age/Onset |
01y03m? |
| Diagnosis/Initial |
Familial macrocephaly |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Phenotype/Onset |
- |
| Phenotype details |
Macrocephaly at birth (head circumference > 97th percentile);
At age 01m15d: hospitalization due to pneumonia, lower airway obstruction and conjunctivits with subsequent diagnosis of HIV (maternally transmitted), no neurologic status documented, no fever on admission and discharge (but no record for time in between); Disease course: Enrollment in study for children with HIV early antiretroviral treatment, therapy starting at age 02m, since age 07m HIV RNA undetectable in plasma; Enrollment in neurodevelopmental sub-study with serial measurements of Griffiths Mental Development Scales (GMDS), results initally age-appropriate; Co-renrollemnt in study for antibody responses to vaccines with careful monitoring during immunization and supply with antipyretics;
At approx. age 01y03m15d: focal seizures involving face and right arm after history of head trauma (one day earlier), various vaccinations without prophylactic antipyretics (five days earlier) and mild upper respiratory tract infection and loose stolls (twelve days earlier); neurologic examination normal; At age 01y06m: score decline in GMDS, increased tendon reflexes in right arm (unitl results of MRI interpreted as HIV encephalopthy);
At age 01y09m: hospitalization due to tuberculosis, neurologic examination not documented;
At age 05y: improvement of GMDS, mild language delay, hearing normal;
For details on various assessment tests see full text (Kaufman assessment battery for children: global IQ 75 (07y), 74 (09y02m), reference children (09y): 75.3;
At age 09y: neurologic examination normal, attends normal school and does well in age-appropriate grade without support;
CT(age 01y03m15d): large subarachnoid spaces, subdural CSF collection over left cerebral hemisphere, possibly arachnoid cysts with brain atrophy, no bleeding; MRI(age 01y06m): temporal atrophy with expansion of subarachnoid convexity spaces and prominent Sylvian fissures, basal ganglia normal apart from subtle hyperintense signal change in globus pallidus, peritrigonal and periventricular white matter hyperintensities and focal hemosiderosis in right Sylvian fissure (thought to be sequelae of previous bleeding) |
| Protein |
- |
| Biochem |
GA(urine): 96 µmol/mmol creatinine; 3-OH-GA(urine): 57 µmol/mmol creatinine; glutarylcarnitine(plasma): 0.64 µmol/l; |
| Enzyme/Activity |
0.36% of controls (fibroblasts) |
| Owner name |
Isabelle Rinke |
| Database submission license |
No license selected |
| Created by |
Isabelle Rinke |
| Date created |
2019-05-01 16:12:08 +02:00 (CEST) |
| Date last edited |
N/A |
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