Jaynie

Nov. 3 1999

 
 
Signs & Symptoms
Prenatal Findings
 -Had cardiac arrhythmia in utero but nothing noted after birth (no work up).
 
Build / Stature
- Slow to gain weight (weighed 9 pounds at birth and at 1 year weighed 17.4, now at age 8.4 years weighs 48 pounds).
- Has dropped on growth charts down to 5-10% for height & weight
- Height at age 8.1 years was 121 cm.
Face
- Slight myopathic facies
- Mild midface hypoplasia
- Bitemporal narrowing
Eyes
- Long palpebral fissures (2-3/4 cm/ 30mm)
- Epicanthal folds (8-1/2 cm >97th%)
- Short columella
- Blue sclera
- Large eyes which widen at the outer canthi
- Accommodative esotropia
- Myopia (wears glasses)
 
Nose
- Upturned nose
- Anteverted nostrils
- Low nasal bridge
- Short nose
- Flat nasal tip
 
Mouth
- High arched, long palate
 
Skin
- Eczema, very dry skin on her trunk/sides
- Extremely sensitive skin
Upper Limb
- Prominent fingertip and toe pads
- Borderline broad terminal phalanges of thumbs
- 5th finger clinodactyly
Lower Limb
- Flat footed, wears orthotics
Respitory System
- Chronic Croup
 
Neurological Functional
- Global developmental delays 15-66% delayed in all areas
- Central hypotonia (reflexes normal)
- Motor incoordination
- Vestibular dysfunction/Gravitational insecurities
- Oral motor dyspraxia (overstuffs food, chokes on  food,  leaves food in mouth for hours) At age 8.4 years still choking on solids, less frequently & still overstuffs.
- Dysphasia
- Autism
Development
- Sat at 10 months, crawled at 11 months, walked at 21 months
- Childhood social anxiety
- Selective mutism (severe)
- Weakness in hands

- Uses an adaptive communication device for communicating
 
Personality / Behavior
 
- Left handed
- Gets tired very easily (with walking) uses stroller at age 8.4 years
- Will only poop when asleep at night
- Night terrors
- Afraid to "grow up", refuses to learn to read or do homework, states she can't read (I think she can read simple words). Irrational fear of growing up
Laboratory Test and Findings
- Normal MRI
- Chromosomal analysis (high resolution) normal
- Fragile X negative
- Lead level normal (<3)
- Serum carnitine free (32) and total (38) normal
- Serum amino acids (qualitative) negative
- Urine organic acids (few highs and lows)
- Urine carnitine free (254) and total (450) markedly elevated
- Comprehensive Metabolic Profile showed elevated BUN (24)
- 4 hearing tests normal
- Barium Swallow showed solid contents are held in anterior mouth. May represent texture/sensory aversion to solids. June 2002
-Swallow study showed severe oral motor stasis/severe oral motor dysfunction
- Serum acylcarnitine profile normal (free carnitine 3.5) (carnitine total 5.4)
- Urine Organic Acids - normal again
- Urine Carnitine normal (total carnitine 311, free carnitine 120)
- Lactate normal (2.1)
- Pyruvate normal (0.4)
- Serum amino acids (qualitative) had few highs and lows but considered normal
- Repeat CMP  (potassium high 5.5, CO2 low 20, Electrolyte balance high 13.0, BUN normal at 13)
-Serum ammonia slightly elevated (38)
-Chest x-ray 10/01 showed fullness at right superior hilar area/right paratracheal region mat relate to lymphadenopathy (Jaynie had croup at time taken)
-Chest x-ray 4/02 showed prominent perihilar markings. Lungs are not hyperinflated and there is no evidence of infiltrate (done when Jaynie was healthy as a f/u to above x-ray)
-Diagnosed with accommodative esotropia in Dec 2002 and as being far-sighted (left eye +450, right eye +375) now wears glasses
- Had surgery to remove tonsils & adnoids for enlargement
- Had frunulectomey
- Bronchoscopy & laryngoscopy showed supraglottic edema, erythema, mild interarytenoid edema
- Being referred to endocrinologist for growth hormone studies
- Starting Celexa soon for SM & anxiety
Note - older sister diagnosed with ulcerative colitis at age 6 and had colectomy 4 years later.
 
Contact: Kristen mom to Jaynie at rswea@sbcglobal.net
Any troubles with e-mails send to swanusa@undiagnosed-usa.org