Age: 1.6
Sex: F
Vaccine: DTAP, HIBV, IPV, MMR, VARCEL
Symptoms: Middle ear effusion, Mitochondrial DNA mutation, Nuclear magnetic resonance imaging normal, Opisthotonus, Otitis media
Clinical narrative: Information has been received a case in litigation concerning an 18 month old female, who at birth weighed 8 lb. 10 oz. with eczema, and a history of bilateral otitis media (subsequent months between July 1999 to January 2000), "PE" tube insertion in January 2000, minor complaints at well visits (unspecified) and fever. Her mother's pregnancy was complicated by gestational diabetes. Her vaccination history included: hepatitis B vaccine (Recombinant) (manufacturer unspecified), a first dose on 27-DEC-1998 and a second dose on 26-JAN-1999; poliovirus vaccine inactivated (manufacturer unspecified), Hib conj vaccine (OMPC) (manufacturer unspecified), a first dose on 12-MAR-1999, 27-APR-1999, 28-JUN-1999; and diphtheria toxoid (+) pertussis acellular vaccine (unspecified) (+) tetanus toxoid (manufacturer unspecified, first dose on 12-MAR-1999, second dose 27-APR-1999, and 28-JUN-1999. According tot he medical records, the child consistently met her developmental milestones during the first eighteen months of her life. The record of an October 5, 1999 visit tot he Pediatric Center notes that the was mimicking sounds, crawling, and sitting. The record of her 12-month pediatric examination notes that she was using the words "Mom" and "Dad", pulling herself up, and cruising. On 19-JUL-2000, at a pediatric visit, it was noted that the child "spoke well", was "active and alert", had normal bowel movements and slept through the night. At the end of the examination she was vaccinated with MMR II. Concomitant therapy included VARIVAX, PEDVAXHIB, diphtheria toxoid (+) pertussis acellular vaccine (unspecified) (+) tetanus toxoid and poliovirus vaccine. It was noted that due to the patient's otitis media, her mother did not allow the patient to receive the standard 12 and 15 month childhood immunizations. Two days after her immunizations (21-JUL-2000), she exhibited a deceased response to stimuli. The mother spoke with the pediatrician, who it was reported told the mother that the patient was having a normal reaction to her immunizations. At follow-up visit, on December 14, 2000, the doctor noted that the child had a possible speech delay. She was evaluated on 17-NOV-2000, and 28-NOV-2000, due to concerns about her language development. The assessment team observed deficits in her communication and social development. The child's mother reported that she had become less responsive to verbal direction in the previous four months and had lost some language. A pediatric neurologist, evaluated her, on 08-FEB-2001, and reported that after her immunizations of 19-JUL-2000, an "encephalopathy progressed to persistent loss of previously acquired language, eye contact, and relatedness." He noted a disruption in her sleep patterns, persistent screaming and arching, the development of pica to foreign objects, and loose stools. He observed that she watched the fluorescent lights repeatedly during the examination and would not make eye contact. He diagnosed her with "regressive encephalopathy with features consistent with an autistic spectrum disorder, following normal development." The physician ordered genetic testing, a magnetic resonance imaging test ("MRI"), and an electroencephalogram ("EEG"). He referred her for further testing and evaluation. On 23-FEB-2001, the evaluation report summarized that she had deficits in "many areas of sensory processing which decrease(d) her ability to interpret sensory input and influence(d) her motor performance as a result." On 16-MAY-2001, she underwent further evaluation. The clinicians concluded that she was developmentally delayed and demonstrated features of autistic disorder. On 17, -MAY-2001, she underwent follow-up consultation. An overnight EEG, performed on -6-APR-2001, showed no seizure discharges. An MRI, performed on 14-MAR-2001, was normal. A G-band test revealed a normal karyotype. Laboratory studies, however, strongly indicated an underlying mitochondrial disorder. She was referred for a neurogenetics consultation to evaluate her abnormal metabolic test results. In the assessment affirmed that her history and lab results were consistent with "an etiologically unexplained metabolic disorder that appear(ed) to be common cause of developmental regression. He continued to note that children with biochemical profiles similar to hers develop normally until sometime between the first and second year of life when their metabolic pattern becomes apparent, at which time they developmentally regress. He described this condition as "mitochondrial PPD'". On 04-OCT-2001, she underwent evaluation to assess whether her clinical manifestations were related to a defect in cellular energetics. After reviewing her history, it was agreed that the previous metabolic testing was "suggestive of a defect in cellular energetics. Recommendations included a muscle biopsy, genetic testing, metabolic testing, and cell culture based testing. A CSF organic acids test, on 08,- JAN-2002, displayed an increased lactate to pyruvate ratio of 28,1 which can be seen in disorders of mitochondrial oxidative phosphorylation. A muscle biopsy test for oxidative phosphorylation disease revealed abnormal results for Type One and Three. The most prominent findings were scattered atrophic myofibers that were mostly type one oxidative phosphorylation dependent myofibers, mild increase in lipid in selected myofibers, and occasional myofiber with reduced cytochrome c oxidase activity. After reviewing these laboratory results, she was diagnosed with oxidative phosphorylation disease. In February 2004, a mitochondria DNA ("mtDNA") point mutation analysis revealed a single nucleotide change in the 16S ribosomal RNA gene (T2387C). On 07-JUL-2004, she underwent a follow-up evaluation. He reported that she "had done very well" with treatment for mitochondrial dysfunction, and concluded that she would continue to require services in speech, occupational, physical, and behavioral therapy. On 14-APR-2006, she was brought by ambulance to a hospital and developed a tonic seizure en route. An EEG showed diffuse slowing. She was diagnosed with having experienced a prolonged complex partial seizure and transferred to a tertiary facility. She experienced no more seizures while she was hospitalized and was discharged on the medications Trileptal and Diastal. A follow-up MRI of the brain, on 16-JUN-2006, was normal with evidence of a left mastoiditis manifested by distortion of the air cells. An EEG, performed on 15-AUG-2006, showed "rhythmic epileptiform discharges in the right temporal region and then focal slowing during a witnessed clinical seizure." She continues to suffer from a seizure disorder. Other medical events included: fever of 102.3 degrees Fahrenheit, lethargic, irritable, intermittent, high pitched screaming, cried fro long periods of time two days after her immunizations (21-JUL-2000), arched her back when she cried, fever of 101 to 102 degrees Fahrenheit, a diminished appetite, and small red dots on her chest post-varicella vaccination rash. (31-JUL-200), temperature of 102 degrees, diarrhea, nasal discharge, a reduced appetite, and pulling at her ear (26-SEP-2000), diarrhea, congested, and crying during urination (28-SEP-2000, bilateral PE tubes (01-NOV-2000), diarrhea, vomiting, diminished energy, fever, and a rash on her cheek (01-NOV-2000), obstruction in her right ear, fussiness, and middle ear effusion, and , balance issues 21-DEC-2000 and not progressing with her speech. Left PE tube was obstructed with crust 27-DEC-2000), PE tube replacement. 17-JAN-2001). In sum, DVIC had concluded that the facts of this case met the statutory criteria for demonstrating that the vaccinations she received on 19-JUL-2000, significantly aggravated and underlying mitochondrial disorder, which predisposed her to deficits in cellular energy metabolism, and manifested as a regressive encephalopathy with features of autism spectrum-disorder. DVIC had concluded that the patient's complex partial seizure disorder, with an onset of almost 6 years after her 19-JUL-2000 vaccinations, was not related to a vaccine injury. Upon internal review it was determined that complex seizures were another important medical event. All medical records will be provided upon request.