Jacqueline

 

Jacqueline in 2010

Jacqueline: 13 in 2011

From: Germany

Symptoms:

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).

 - Epilepsy

- General developmental delays

- Gastro-oesophageal reflux

- Celiac disease, Intolerance, Fructose Intolerance, Sorbitintolera

- Dysganglionose (2008 – Malone button)

- Aortendilaion

- 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.

Diagnosis:

- PVNH4 (FLNA mutation confirmed), fructose & lactose intolerance, Dysganglionose confirmed, aneurysm in the brain (MRT).