Children's Memorial Hermann Hospital Patient and Physician
Appear on "Good Morning America"

Young patient Rosendo Robles and Mary Kay Koenig, M.D., his Children's Memorial Hermann Hospital neurologist and assistant professor of child and adolescent neurology at The University of Texas Medical School at Houston, were featured on "Good Morning America" on Jan. 23, 2008. Pamela Blake, M.D., a neurologist at Memorial Hermann Northwest Hospital, also was featured on the show as a medical expert.

Timely diagnosis and treatment by a pediatric neurologist at Children's Memorial Hermann Hospital has helped a Texas toddler recover from a rare, devastating condition.

Rosendo Robles was a normal, happy infant living with his family in McAllen, Texas, when his development suddenly stalled at just 4 months old.

By the time he was 2-½ years old, Rosendo could not walk, talk, swallow or control his eye movements. He had daily seizures and vomiting.

Rosendo was placed on a feeding tube while his mother, Mayra Rivera, desperately sought a doctor who could diagnose Rosendo's mysterious illness.

Physicians initially believed Rosendo had mitochondrial disease caused by damage to the mitochondria – structures in cells that assist cell metabolism and the conversion of food to energy. Nerve cells in the brain and muscles require significant energy and are particularly damaged by mitochondrial disease. The condition, which strikes one in 5,000 babies, has no cure.

In July 2007, a visit with Dr. Mary Kay Koenig, pediatric neurologist at Children's Memorial Hermann Hospital and assistant professor of child and adolescent neurology at The University of Texas Medical School at Houston, led to hope for Rosendo.

During the visit, Koenig realized Rosendo had never had a lumbar puncture to evaluate for potentially treatable metabolic diseases that affect the central nervous system.

The procedure was performed at Children's Memorial Hermann Hospital and revealed that Rosendo has idiopathic cerebral folate deficiency, a rare condition with similar symptoms to mitochondrial disease. However, cerebral folate deficiency is treatable and, if caught before a child is 3 years old, there is a good chance that the patient will have a normal life.

"When we received the diagnosis that Rosendo had a treatable disease, I felt like Dr. Koenig had handed us a miracle," Mayra Rivera said.

Koenig started Rosendo on daily oral doses of folinic acid in September 2007. Folate is needed for many chemical reactions in the body, including brain formation. Without it, myelin (the substance that forms around nerve fibers) never forms, so the brain cannot communicate with muscles and development is arrested.

This is already proving to be a banner year for Rosendo. His seizures and vomiting have virtually disappeared. He has begun smiling, babbling and tolerating food better. His muscle strength is improving, and he can sit and stand alone for short periods of time.

"I fully expect Rosendo to continue to recover and develop over the next several years,"Dr. Koenig said. "I'm very optimistic that he will lead a full and healthy life."

For more information on treatment of idiopathic cerebral folate deficiency at Children’s Memorial Hermann Hospital, call The University of Texas Pediatrics Clinic at 832-325-7151.