Case History

EW was born 6 years ago at 39 weeks gestation by repeat Cesarean section. Pregnancy was normal except for lack of late third trimester fundal growth. Ultrasound, however, showed no placental or fetal abnormalities.

We first became concerned with EW’s development when we noticed gross motor delays. She rolled at 6 months, sat at 9 months, pulled to stand at 1 year, and with therapy walked at 18-20 months. Because of lack of speech at 15 months, she was evaluated at an infant development clinic (11/20/02). At this time, her Bailey Test showed an age equivalence of 10 months. Psychological evaluation at this time showed good eye contact and a social nature. Physical examination confirmed gross and fine motor delay associated with hypotonia and increased deep tendon reflexes in her lower extremities. She was diagnosed with global developmental delay. Two neurologists at this center provided two different diagnoses: delayed myelination and ataxic cerebral palsy. EW began early intervention services. Between mid-2003 to end of 2004, EW’s development was interrupted by at least six different episodes of symptomatic regression associated with viral illnesses. These regressive episodes were associated with gross motor problems such as falling down, increased ataxia, drooling, easy fatigability, and poor articulation. Each episode required 3-4 weeks of recovery before returning to her previous baseline. During one episode in February 2004, her laboratory studies showed elevated CPK levels.

Further laboratory studies showed persistently elevated CPK but normal carnitine profile, plasma amino acids, urine organic acids, and karyotype. Head MRI including spectroscopy on 12/10/04 showed no abnormalities. Despite her regressive episodes, EW has made progress in all areas. However, at baseline she still demonstrates exercise intolerance, weakness, mild ataxia and profound fine motor delay. In January 2005 we saw a specialist in metabolic and genetic disorders at major medical center, who recommended a trial of L-carnitor. Initiation of carnitine reduced the frequency and severity of her regressive episodes associated with viral illnesses. We also believe the carnitine may have helped with EW’s weakness. In early-mid 2005 we became concerned with EW’s lack of social development and preservative language. We suspected that she had an autism spectrum disorder and a thorough psychological evaluation in 11/05 confirmed a diagnosis of Autism. Because we suspected that EW might have a mitochondrial disorder, we sought a second opinion with a neurologist/mitochondrial disease specialist on 2/22/06. He recommended a muscle biopsy, but we were reluctant to pursue the biopsy this invasive procedure with low diagnostic yield. However, at the physician’s recommendation, we started Co Enzyme Q10 supplementation. This seemed to help her weakness and exercise intolerance. Last August we consulted a metabolic geneticist at a major medical center by email. He looked over EW’s lab results and clinical history and concluded that EW likely has a mitochondrial disorder. However, he felt a muscle biopsy was not required for diagnosis given the compelling clinical history. This past winter (Dec. 2006), EW had a viral gastrointestinal illness characterized by nausea, vomiting, and dehydration, as well as increased weakness. After consultation with her local geneticist/metabolic physician, we decided to hospitalize her for intravenous fluids and glucose. The fluids and glucose prompted a remarkable recovery and she was discharged after one day of hospitalization. She seemed to return to baseline more rapidly than with past illnesses following the hospitalization.

As part of the IEP process IQ testing in April 2007 revealed a Verbal IQ of 90 (25th percentile) and a Performance IQ of 61 (0.5th percentile). Testing of the Performance IQ was extremely difficult due to EW’s profound deficit in visual-spatial skills. Vineland Adaptive Behavior Scales was in the 4.5 year to 5-year range. Overall, sensory processing and fine motor development remain major deficits and areas for therapeutic intervention. She attends a special school, receives home ABA, OT, adaptive physical education, and speech therapy. A pediatric cardiologist, has also evaluated her. Initially EW had an intraventricular conduction delay, but EKG and echocardiography done 4/07 on supplementation showed no abnormalities.