| Remarks |
Clinically affected; symptom onset at 3 months of age; diagnosed by geneticist at 10 years old; examination at 10 months old revealed delayed development, hypotonia, left eye strabismus, no eye contact or tracking of objects, poor cortical vision, two lower incisors with black spots, difficulty swallowing, acidotic state with Kussmaul breathing, dry skin, daily seizures; muscle biopsy at 10 months old revealed 50% decrease in cytochrome-c oxidase (deficient); examination at age 10 years old revealed the following: mild dysmorphic features, scoliosis, high arched abnormal feet, increased tone at ankles, daily seizures (convulsive and myoclonic), non-verbal; cannot walk, sit, crawl, stand, cry, or laugh; gastric tube feeding; constipation; gas; bloating; precocious puberty; tanner stage 1 breasts and tanner stage 2-3 pubic hair with no axillary hair; severe spastic quadriplegia; kidney stone and UTI; hypertension with thickening of septal wall; MLPA of genomic DNA revealed subject is heterozygous for a partial deletion that includes exons 17 and 18 of the CDKL5 gene; FOXG1 sequencing was negative (exons 1-2); no detectable deletions or duplications of MECP2 were identified; normal female microarray result; allergies include latex, soy and adhesives; treatments include physical, occupational, speech, feeding, and vision therapy and utilizes a developmental teacher; ketogenic diet; assistive devices include wheelchair, braces, and orthotics; surgeries include gastric tube, nissen fundoplication, and vagal nerve stimulator; medications include Lupron, Lamictal, Risperidone, Levetiracetam, Clonazepam, Zinc Sulfate, Diazepam, Miralax, Clonidine, Cytra K Crystals, Zantac, Carnitor, Magnesium, Cholecalciferol, Zyrtec, Culturelle, Melatonin. |