Special Child: Diagnosis Search

Features and Characteristics:

Hydrocephalus (with VP shunt)
Seizures
Mild bilateral hearing loss
Hypotonia
Ligamentous laxity (wears SMOs but can ambulate well)
Atrial septal heart defect (repaired)
Mental retardation (mild to moderate)
Strabismus and sensitive to sunlight
Chronic elevated liver enzymes
Ketotic hypoglycemia
Beau's lines (ridges in the fingernails)
Constipation
Stridor (a harsh vibratory sound caused by an upper airway obstruction) at night
Difficulty maintaining body temperature
Mild frontal bossing (prominent forehead)
Macrocephaly
Flat supraorbital ridges (above the eye cavity)
Widely-spaced eyes
Downward turned palpebral fissures (opening between the eyelids)
Widely-spaced teeth
Prominent scaphocephaly (abnormal length and narrowness of the skull as a result of premature closure)
Dolicocephaly (long, narrow head)
Slight epicanthal folds (vertical fold on either side of the nose)
Low-set ears
High palate
Slender, delicate feet and hands
Slightly thin upper lip
Broad nose and nasal bridge
Slight ptosis of left eye (drooping eyelid)
Elevated ammonia, lactic acid, liver enzymes, bilirubin, and pyruvate
Mildly decreased carnitine levels
Liver biopsy showed metabolic disease of unknown origin
Muscle biopsy showed only myofiber size variability

Testing with negative results: