Jacqueline: 13 in 2011
Jacqueline is a foster-child with a long medical history. Jacqueline biological mother died suddenly at the age of 30 years of an aortic aneurysm (associated with PVNH4, although not confirmed in birth mom).
- Her birth mom had a schizophrenic psychosis and problems with learning. .
- Jacqueline, at 2, joined her new family. She was disturbed and showed intellectual delays.
- She showed abnormalities in the muscle tone.
- Digestive problems such as with diarrhea and constipation.
- Talipes valgus (foot is abducted or everted)
- Failure to thrive.
- Digestive problems such as with diarrhea and constipation at 5 birth month.
- Bowel biopsy for Hirschprungs (negative),
- From the time she was 3 years, her parents ran from one doctor to another.
- At age 4, suspected Celiac disease with secondary lactose intolerance. HLA DECU 8 positive.
- At the age of 6 years, had her first generalized tonic-clonic seizures and an
MRI image showed periventricular nodular heterotopias.
- After many investigations Jacqueline was diagnosed with Addison’s disease (adrenal deficiency).
- General developmental delays
- Gastro-oesophageal reflux
- Celiac disease, Intolerance, Fructose Intolerance, Sorbitintolera
- Dysganglionose (2008 – Malone button)
- Mild aortic (valve) insufficiency
- Ehlers-Danlos syndrome (abdominal wall hernia)
- High palate
- Dental anomalies
- Persistent fetal lymphoedema
- Broad nasal bridge
- Bilateral epicanthus
- Low-sitting and dorsalrotierte ears
- Brachydaktylie of the small finger and a discrete membranous, partial
- Syndactyly between all fingers
- On the feet consist ll – lll – Syndactyly both sides and a toes
- A small form from learn problems ,perceptual disorder and disorientation
- Immediate osteoporosis
- A magnetic resonace tomographie has identified two aneurism in the
brain (Arteria communicans anterior aneyrysm and arteria carotis aneyrysm).
- Sensitive to loud noises- fireworks , loud musik,a lot of people.
- Obstructive ventilations dysfunction (small airways disease) and platelet dysfunction.
- PVNH4 (FLNA mutation confirmed), fructose & lactose intolerance, Dysganglionose confirmed, aneurysm in the brain (MRT).