Phenylketonuria: An Underlying Etiology of Autistic Syndrome. A Case Report Najoua Miladi, MD; Abdelmajid Larnaout, MD; Helayem, MD; Mongi Ben Hamida, MD

Neziha Kaabachi, PhD; Mohamed

Abstract A

3.5-year-old girl

search for PKU

with

was

an

syndrome was investigated, and classic phenylketonuria (PKU) was identified. The systematically as part of an essential work-up of children with autism. (J Child Neurol

autistic

undertaken

1992;7:22-23).

alternative to the diagnosis of mental retardation in a child who performs inadequately on measures of mental development is infantile autism, first described by Kanner in 1943.1 He emphasized a profound withdrawal from contact with people, an obsessive desire to preserve sameness, and a failure to use language for communication. Autism is now increasingly recognized as a behaviorally defined syndrome with multiple etiologies.2 It is impossible to divide, on the basis of different behavior, the cases with autism into those &dquo;with and without organic neurological damage/dysfunction. &dquo;3 To underscore this idea, the authors report a case of autistic syndrome with phenylketonuria

On examination, she manifested marked lack of of the existence of others. She was not capable of imitation and had no social play. She had no mode of communication such as communicative babbling, facial ex-

n

awareness

pression, gesture, mime, or spoken language. She had markedly abnormal nonverbal communication, eg, in the use of eye-to-eye gaze, facial expression, and body posture. She had

the child

was untestable. She had no dysmorphic traits. Electroencephalographic (EEG) examination showed left temporal spike discharges. A brain computed tomographic (CT) scan was normal. Hearing and ophthalmologic tests were normal. She had no abnormalities of blood calcium, of thyroid functions, or of mucopolysaccharidosis. Examined at 7 years of age, she appeared to have made a fairly adequate social adjustment, but a certain oddness of personality, lack of humor, and unawareness of social nuances persisted. An amino acid chromatogram in plasma and urine showed hyperphenylalaninemia at 50 mg/dL and phenylketonuria with normal tyrosine concentration. The pterin levels in plasma and urine were not measured. A low phenylalanine diet was tried by the pa-

Report

Ghada

was a 3.5-year-old girl. She was the only child of a nonconsanguineous family. During the third month of her prenatal life, her mother contracted measles. Her delivery was normal. At an early age, she appeared unusual, moving and crying little and seeming content to be alone. Toys

elicited little interest or were held onto with unusual obstinacy. Motor development was delayed. She was able to sit at 12 months of age, and she was able to walk alone at 26 months of age. Received Feb 26, 1991. Received revised August 7, 1991. Acfor publication August 30, 1991. From the National Institute of Neurology (Drs Miladi, Larnaout, and Ben Hamida), the Laboratory of Biochemistry (Dr Kaabachi), and the Service of Child Psychiatry, Faculty of Medicine of Tunis (Dr Helayem), Tunis, Tunisia. Address correspondence to Ur Najoua Miladi, institut National de Neurologie, La Rabta 1007 Tunis, Tunisia.

lack of interest in stories. She manifested

(DSM-III-R) criteria. The child’s level of cognition and motor and linguistic prowess could not be determined because

(PKU). Case

a

stereotyped body movements, such as hand flicking and head banging, and persistent preoccupation with parts of objects. She was examined by a child psychiatrist and the diagnosis of autism was considered according to Diagnostic and Statistical Manual of Mental Disorders, 3rd ed revised

tient, without

a

great improvement of the

autistic syn-

drome.

cepted

Discussion

According to the

DSM-III-R criteria, the diagnosis of retained in this patient. The absence of aggressive encephalopathy with hypersalivation,

autism an

was

22

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patients presenting with severe autistic symptoms is essential (Table 1). PKU must be sought very early, because patients can benefit from a precocious diagnosis and treatment. We report this case to underscore the need to maintain neonatal PKU screening so similar cases can be prevented by the institution of an early dietary restriction of phenylalanine intake. Considering the social, economic, and psychologic consequences of mental deficiency and autism, both screening and use of specific diets for PKU are

TABLE 1

Essential

Work-up

of Children With Autism

worthwhile. Genetic counseling was given to this family, and the possibility of a prenatal diagnosis for future pregnancies was explained to the parents.

Acknowledgment MRI

=

phy ; T3

We thank Miss Saloua Braham for secretarial assistance.

imaging; computed tomogratriiodothyronine; T4 thyroxine; TSH thyrotropin.

magnetic =

CT

resonance

=

=

=

References

in

a

7-year-old patient

and the

high plasma phenyl-

alanine level (50 mg/dL) were sufficient arguments to retain the diagnosis of a classic PKU and to rule out the diagnosis of malignant hyperphenylalaninemia. Determination of the pterin levels in plasma and urine was not considered The rapidly increasing proportion of &dquo;organic&dquo; versus &dquo;nonorganic&dquo; autism cases8~9 has made it less and less likely that autism without brain damage/ dysfunction exists. Autism is now best conceptualized as an administrative diagnosis, similar in kind to epilepsy and cerebral palsy, a symptomatic/descriptive term indicating dysfunction of specific brain neural circuitry but not implying unitary etiology. It should come as no surprise that disorders as disparate as PKU, Rett syndrome, tuberous sclerosis, the fragile X syndrome, and Sanfilippo disease have all been identified in population studies of cases of autism in which, at first presentation, there was no suggestion of &dquo;underlying&dquo; disorder other than autism. A careful neurobiologic work-up in all

necessary.4-’

1. Kanner L: Autistic disturbances of affective contact. Nerv Child

1943;2:217. 2. Coleman M, Gilberg C: The Biology of the Autistic Syndromes. New York, Praeger, 1985. 3. Dhondt JL: Les déficits en tétrahydrobioptérine. Enseignements de l’analyse de 90 patients colligés dans le registre international. Arch Fr Pediatr 1987;44:655-659. 4. Dhondt JL, Farriaux JP, Hayte JM: Bilan de 6 années de dépistage des hyperphenyl alaninemies par déficit en cofacteur. Arch Fr Pediatr 1986;43:785-789. 5. Dhondt JL, Farriaux JP: Atypical cases of phenylketonuria. Eur

j Pediatr 1987;146(suppl 1):A38-A43. 6. Dhondt JL: Tetrahydrobioterin deficiencies: Preliminary analysis from an international survey. J Pediatr 1984;104:501. 7. Garreau B, Barthelemy C, Sauvage D: A comparison of autistic

syndromes

with and without associated

neurological prob-

8.

lems.J Autism Dev Disord 1984;14:105. Gilberg C, Steffenberg S, Jakobsson G: Neurobiological find-

9.

ings in 20 relatively gifted children with Kanner-type autism or 1987;29:641. Asperger syndrome. Dev Med Child Neurol Percy A, Gillberg C, Hagberg B, Witt-Engerström I: Rett syndrome and the autistic disorders. Neurol Clin 1990;8:659-676.

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Phenylketonuria: an underlying etiology of autistic syndrome. A case report.

A 3.5-year-old girl with an autistic syndrome was investigated, and classic phenylketonuria (PKU) was identified. The search for PKU was undertaken sy...
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