Diagnosis at present (Sept. 2.012):
1. Deletion of chromosome 13 (q 21.32 – q 31.2). See Genetics chapter.
2. Neurodevelopmental and growth retardation.
3. No verbal communication
Weight: 15 kilos
Height: 107 cms
Tomás was born at a gestational age of 38 weeks by programmed caesarean section due to fetal growth problems. He weighed 2.650 gr. and his height was 49 cm.
Prenatal antecedents: Normal pregnancy. The mother had had a previous abortion 2 years before and the fetus presented a Dandy-Walker Syndrome.
He was born with velopalatine incoordination and by this reason he remained 10 days in the medium care unit. He was fed by mouth for 2 months and received oxygen permanently.
At 1 month of age he was hospitalized for apnea, which was not evidenced during the hospital stay.
At the age of 2 months he was hospitalized due to a flue-like virus and malnutrition. As he did not gain weight, he underwent a gastrostomy. A laryngoscopy was performed. It showed laryngomalasia. He began to receive oxygen only during the feeding process.
He was hospitalized again a month later with chronic bronchiolitis. A tracheo-esophageal fistula was evidenced.
At the age of 6 months, cine-pharyngography and esophagogram was performed. Velopalatine incoordination was evidenced as well as micro-aspirations both from gastrostomy and orally. Closure of the epiglottis was incomplete. For this reason, the gastrostomy was replaced by a gastroduodenal catheter. Due to the catheter length he presented enterocolitis that was successfully controlled. The child presented several infections including candidiasis due to the catheter. He began to receive food by mouth at the age of 9 months.
The gastrostomy was retired at the age of 1 year, when he could swallow liquids without nasal regurgitation.
A diagnosis of Williams Syndrome was considered and dismissed.
Genetic tests (microarray) showed deletion of chromosome 13 (q21.32 q31.2).
Karyotype performed to parents and sister were reported as normal.
He underwent cardiac and visual investigation, reported as normal.
Neurological examination was normal, except psychomotor retardation and generalized muscle hypotrophy.
He underwent a brain mapping that showed increase in slow waves and has received hyperbaric and ozone therapy. He has physical, occupational and speech therapy.
Psycomotor development: he began to crawl at 16 months and to walk at the age of 24 months. He does not pronounce words. He communicates through sounds and with cards.
He has no total sphincter control yet (using diapers only at night). He obeys orders and identifies objects, words and numbers. Tomás attends a kindergarten from the age of 3 years. He loves music and to socialize and is a happy child.
Surgical antecedents: gastrostomy, pyloroplastia, amygdalectomy, adenoidectomy, ear tube surgery.
In June 2.010 Tomas suffered an hypercalcemia crisis due to improper dosage of vitamin d, which was detected and treated. At present, calcium blood levels are within normal limits.
Since early 2010 Tomas has had a wonderful health and mood, which has allowed him to develop his school and therapeutic activities optimally.