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 X-Linked PVNH, 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:
– X-Linked PVNH (FLNA deficiency variant confirmed), fructose & lactose intolerance, Dysganglionose confirmed, aneurysm in the brain (MRT).
