Preventable cases of autism: relationship between chronic infectious diseases and neurological outcome

ISSN 1745-5111 Pediatric Health (2009) 3(2), 125–140 10.2217/PHE.09.5 © 2009 Future Medicine Ltd effective antimicrobial treatment for the mater­ nal grandmother or the mother before or during pregnancy or by treating the children at an early point in d evelopment (Figures 2–4). The mother had a diagnosis of chronic fatigue syndrome, multiple sclerosis, depres­ sion and possible congenital Lyme disease. She had an acute episode of mononucleosis while pregnant with the son. The SPECT scan dem­ onstrates an extensive hypoperfusion pattern, predominantly in the cerebral cortices and much of the frontal lobes, with a lesser degree in the temporal lobes and a small degree of hypo­ perfusion in the cerebellum. The hypoperfusion is mode rately extensive and is likely associated with toxic, inflammatory and infectious pro­ cesses. There is hyperperfusion of the basal ganglia, which is associated with anxiety and mood dysregulation (Figure 1). Laboratory testing was positive for B. burgdorferi, Babesia duncani, Bartonella henselae, Mycoplasma fermentans, Human herpes virus (HHV)­6, Epstein–Barr virus (EBV), high antistreptolysin­O titer and gamma streptococci in stool. The 26­year­old son is low functioning with autism since 2 years of age and has also been diagnosed with grand mal seizures, move­ ment disorder, ataxia, hypotonia, megacolon, possible mitochondrial disorder, mild hyper­ gammaglobulenmia and syncope. There are some motion artifacts; however, significant hypoperfusion pattern is both focal as well as generalized. The SPECT scan demonstrates Family case report This article includes brief clinical summa­ ries and single photon emission tomography (SPECT) scans of a mother and her three chil­ dren who have all been diagnosed with autism spectrum disorders (ASDs). The 48­year­old mother had previously been diagnosed with chronic fatigue syndrome, possible multiple sclerosis and depression (Figure 1). Three of her four children had ASD. Subsequently, she and the three children were diagnosed with a number of chronic infections and were treated with different degrees of effectiveness. The presence of Borrelia burgdorferi was confirmed by testing from IGeneX Labs, CA, USA, and the presence of the viral infections were con­ firmed at Medical Diagnostic Laboratories, NJ, USA. The 23­year­old daughter was treated extensively with antibiotics, subsequently became pregnant and gave birth to a normal healthy infant with an Apgar score of 10 and normal developmental milestones (Figure 2). Retrospectively, the maternal grandmother had cognitive impairments and Asperger’s traits. She was positive for B. burgdorferi (the causative agent of Lyme disease) by ELISA and western blot. There was B. burgdorferi present in her heart tissue upon autopsy confirmed by microscopy and polymerase chain reactivity and she died from multiple myeloma, which was considered to have had a possible infec­ tious etiology. This case raises the question of whether ASD could have been prevented by perspective