Autism and Metabolic Cytopathy (Otizm ve metabolik sitopati) / Dr. Agâh Aydın
4400 Kere Okundu

                                                                    The Open Neuroimaging  Journal, 2011, 5, 00-00







Mehmet Emin Ceylan1, Ayse Fulya Maner*,2, Ahmet Turkcan 3 and Agah Aydin 4

Open Access




1Bakirkoy Research  and  Training  Hospital for  Psychiatry,  Neurology and  Neurosurgery,   Istanbul, Turkey;  2Bakirkoy

Research  and  Training  Hospital for  Psychiatry,  Neurology  and  Neurosurgery,   Istanbul,  Turkey;  3Bakirkoy  Research

and  Training  Hospital  for  Psychiatry,  Neurology  and  Neurosurgery,  Istanbul,  Turkey;  4Bakirkoy  Research  and

Training Hospital for Psychiatry, Neurology and Neurosurgery, Istanbul, Turkey


Abstract: Letter to  the editor: Autism is a wide spectrum disorder and a lot of factors play role in the etiology. Autism may  accompany  some  genetic  disorders  such  as  fragile  X,  tuberosclerosis,  neurofibromatosis  and  phenylketonuria  (1). However, the absence of sufficient evidence on the etiological roles of environmental, neuroanatomical and biochemical factors has shifted the direction of research to genetics and cytology (2).


Keywords: Autism, genetics, metabolic cytopathy






The patient was a 25 years old male.   He had symptoms such as stereotypic behavior, screaming, very limited eye-to- eye  contact,  very  limited  conversation,  forcefully  imposing his wishes, doing only what he wanted, not cooperating, and moving  around  constantly  during  the  psychiatric  examina- tion. He has  been  under  our  follow-up  for  the last 12  years since  he  was  13  and  diagnosed  as  Autistic  Disorder  at  that time.


He was prior diagnosed as ‘Attention Deficit Hyperactiv- ity Disorder’ before the age of thirteen and prescribed meth- ylphenidate and developed drug-associated hypertension.

The  patient  was  initially  administered  clomipramine  75 mg/day  and  pimozide  1  mg/day.  Then  the  medication  was shifted   to   clozapine   25   mg/day.   Later,   risperidone   1.5 mg/day was used.

His family   history  was   unremarkable   except  for  one cousin with autistic features.


The cranial magnetic resonance imaging were performed and  in  axial proton  density-weighed  (PD-weighted)  images, hyperdense  signal  changes  were  detected  in  bilateral  pu- tamen, head of caudate nucleus and posterior thalamus (pos- terior  pulvinal)  (Figure  1a),  and  minimal  signal  increases were seen  in dentate nucleus  in both serebellar hemispheres (Figure 1b). In axial T1 weighted  images hyperdense signal changes were seen in bilateral putamen, head of caudate nu- cleus and posterior thalamus (posterior pulvinal) (Figure 2a) and    in  dentate  nucleus  in  bilateral  serebellar  hemispheres (Figure 2b).


The tests  for  genetic  mitochondrial disease or  metabolic errors  of  amino  acids  and  organic acids  yielded  no  positive results   (corpuscular   blood   cells,   peripheral  blood   smear, enzyme  levels,  hormones,  blood  and  urine  biochemistry).

The patient underwent evaluation by neurologists, biochem-

ists  and  radiologists,  but  no  etiologic  factors  could  be  de-

tected. The present condition was considered to be an uncon- firmed ‘metabolic cytopathy’.




Medical   conditions,   cytogenetic   anomalies   and   single gene disorders which are considered as causes of autism are responsible only for 10% of all autistic cases. Therefore, an underlying medical condition is very rare (3, 4). On the other hand, a lot of metabolic disorders are associated with symp- toms  of  autism,  although  the  extent of  metabolic anomalies in the spectrum of autistic disorders is unknown.



Fig. (1a). Hyperdense signal changes in bilateral putamen, head of caudate nucleus and posterior thalamus (posterior pulvinal) in axial proton density-weighed (PD-weighted) images


Considering that autism is a wide spectrum disorder and


                                                                                                                       a variety of factors play role in the etiology, it should be kept


*Address  correspondence  to  this  author  at  the  Bakirkoy  Research  and

Training Hospital for  Psychiatry,  Neurology  and  Neurosurgery,   Istanbul, Turkey; E-mail:

in mind the contribution of environmental factors. Although these environmental factors  are suggested  to  be effective  in only  a  minority  of  cases  and  that  these  factors  may  even



18744400/11           2011 Bentham Open




2    The Open Neuroimaging Journal, 2011, Volume 5                                                                                                                                   Maner et al.





Fig. (1b). Minimal signal increases in dentate nucleus in both sere-

bellar hemispheres in  axial proton  density-weighed  (PD-weighted)





Fig. (2a). Hyperdense signal changes  in bilateral putamen, head of caudate nucleus and posterior thalamus (posterior pulvinal) in axial T1 weighted images


trigger the disease in individuals who carry alleles with risk (5, 6), it  is  clear  that the presence  of  non-genetic factors  in the etiology of autism should be investigated further. Autis- tic cases should be classified into subgroups according to the


Fig. (2b). Hyperdense signal changes in dentate nucleus in bilateral serebellar hemispheres in axial T1 weighted images


underlying  genetic risk, it may  even  be possible to  define a special subgroup which would cover the metabolic cytopathy as presented in our case.


In conclusion, it is possible that autism due to metabolic causes is of genetic origin; however, this condition should be detected by a molecular approach.




[1]          Trottier G, Srivastava L, Claire-Dominique W. Etiology of infantile autism: a review of recent advances in genetic and neurobiological research. J Psych Neurosci 1999; 24:103-15.

[2]          Lamb   JA,   Parr   JR,   Bailey   AJ,   et   al.   Autism:   in   search   of susceptibility genes. Neuromol Med 2002; 2:11-28.

[3]          Muhle   R,   Trentacoste   SV,   Rapin   I.   The   genetics   of   autism.

Pediatrics 2004; 113: 472-86.

[4]          Jamain S, Betancur C, Giros B, Leboyer M, Bourgeron T. Genetics of autism: from genome scans to  candidate genes. Med  Sci 2003;


[5]          Korvatska  E,  Van  de  Water  J,  Anders  TF,  et  al.  Genetic  and

immunologic  considerations  in  autism.  Neurobiol  Dis  2002;  107-


[6]          Glasson   EJ,  Bower   C,  Petterson   B,  de   Klerk   N,  Chaney   G, Hallmayer JF.   Perinatal factors and the development of autism: a population study. Arch Gen Psychiatry 2004; 61:618-27.





Received: 00 00, 2011                                                                          Revised: 00 00, 2011                                                                   Accepted: 00 00, 2011



© Maner et al.; Licensee Bentham Open.


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