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).