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Forum Name: Neurology Topics

Question: metabolic disorder or alalia or autism


 Eka - Tue Aug 07, 2007 9:39 am

Patient: 3 years 10 months old male

Condition at birth: child was normal (3.2 kg and 49 cm)

Objective observations: patient is not talking, the retardation in comparison with its age is observed. He is emotional. Since 1st of April, 2007 patient is on glutein-casein-sugar free diet. As a result the improvement of general condition is revealed: patient became communicable, he easily contacts with foreigners, sleep is normalized. At the evening patient has the activity period: he jumps, cries and runs from one side of room to the other and nobody can interfere and make him stop at this moment. On the background of diet he started to observe its hands during this activity period.

Delivery: physiological. Complications during pregnancy or delivery: tone was too high, lying regime was prescribed to mother during 9 months of pregnancy. Placenta was partially detached before (6 hours) delivery, bleeding.

Vaccination: 1st vaccination at age of 6 months – tetanus and BCG. Small increasing of temperature was observed.
2nd vaccination at age of 1 year and 2 months – MMR. Reaction: temperature and red spots on the body (light form of measles).
Anti-rabid vaccine at 06.08.2007.

Breast feeding: during 2 months.

Allergy: Diathesis, nettle-rush, appeared at age of 2 months and is observed till now.

Operational treatment: surgery of inguinal hernia (age - 8 days old)

Sleeping pattern: Mother complaints, that patient has disorder in his sleeping pattern, but the situation improved on the background of glutein-casein-sugar free diet.

Walking: began at age of 1 year and 2 months

Speech: patient said his first word “mother” at age of 6 months, after the age of 1 year and 6 months he stopped to speak at all.

General development: parents note, that patient has been developing normally in general before the age of 1 year and 6 months: he had normal reactions, spoke few words (like “mother”, “father”, his uncle’s name), but at the same time there were existed problems with sleeping – patient was going to bed late. He disliked strangers and unusual situation, but at present he is much more communicable and doesn’t feel bad in a new situation.

General personality: patient is very emotional, has very clear expression of love, in the range of his favorite persons father is at first place, than is grandmother who brings him up, mother is third person. He likes kisses, at the evening he waits near the door, because he knows that parents will come after job. His favorite amusement is marry-go-round, he plays with bottles and saucepan head, plays with his genital organ, watches TV and cartoons, listens music, sometimes plays with ball. Patient’s activity begins at the evening, he jumps, cries and runs from one side of room to the other and nobody can interfere and make him stop at this moment.

Infections: enterovirus infection with diarrhea and high temperature. Influenza, laryngitis and quinsy – it has been used inhaler, patient can’t breath properly.

Treatment with
a) Antibiotics: at age of 8 days patient was treated by amikatsin, raciocef (hernia’s post-operational treatment). In the case of quinsy patient was treated by sumamed. Reactions: after treatment with antibiotics began stomach problems and disbacteriosis.
b) Other drugs: sumamed (250 mg, 1 capsule per day before eating), melon (half of tablet twice per day), nurofen, hexapneumine, lazolvan, zirtek (half of tablet per day) during quinsy. Polydexa for nose has been used in the case of flu. Tremak, ceterizine, dexametazone – for laryngitis treatment. Dufalak, smekta and Linex in the case of stomach problems. Calcium gluconate (0.5 g) after casein free diet – half of tablet per day.

Family history:
Father: general health – healthy; past medical history – dysbacteriosis, varicose veins; illnesses in paternal family – nothing dangerous cannot be remembered; depression – no; anxiety – no; bipolar – no; other disorders – no; hospitalizations – no.
Mother: general health – healthy; amalgam fillings – she has restored most of her teeth, but she doesn’t know if there are any amalgam fillings; pregnancy – lying regimen during 9 months of pregnancy, high tone, baby’s lack of oxygen; medication during pregnancy – some drugs for keeping the child (magne b6, partusisten and finoptin, xopitol and no-spa, candles of papaverin, aquagen); past medical history – hepatitis A at age of 13 years; blood group – 1st Rh-positive; illnesses in maternal family, especially autoimmune – no; mental or emotional illness in mother’s family – no; depression – no; anxiety – little bit; bipolar – no; hospitalizations – no.

Consultation of neurologists
11.01.2006 - Diagnosis: Perinatal encephalopathy, sensomotoric alalia, syndrome of psychical retardation
06.02.2006 - Diagnosis: Global retardation of development
11.04.2006 - Diagnosis: Alalia

Consultation of neuropsychologist
01.10.2006 - Consultation summary: Patient has a peculiar form of communication. He does not actively observe the environment, does not follow the things given to him with a look, does not have any interest in toys. He pays more attention to objects. He does not get involved in games and does not try to share. He shows dissatisfaction and happiness with certain types of voice (mumbling or voice modulation in high tones). At the same time he has good musical pitch and nonverbal ear. When adults address him with a song or modulation of high tones (only with voice, not with speech) he pays attention to them and may even contact them for several seconds. The fact that he has no contact with the people around does not mean that he does not need communication. Simply he does not have appropriate means for it.
19.07.2007 - Cinsultation summary: Patient, 3 years and 9 months old, was brought for the second consultation by his mother. The first examination was carried out 9 months ago (1.10.06). In comparison with the results of the previous examination, he calmly adapts to new environment, does not make strange noises. He takes the toys which are offered to him, follows the moving toys with a look. While contacting adults he smiles and looks into their eyes, occasionally he says some syllables. He fulfils one-step instructions and can be involved in a simple game for up to 2 minutes – games like giving cubes or balls or placing a cube on top of another after being shown. 30 minutes later he prefers to be alone, as a result of getting bored, and does not respond to the offers of adults. But after spinning on a chair (vestibular examination) again returns to the game. During the meeting stereotypical actions were not revealed.
In comparison with the previous state some positive progress is seen in the following parameters:
• Communication – the child smiles to the adults, looks into their eyes, listens while they are talking to him, follows things with a look if he is shown something. These kinds of intensive contact can last approximately for 10 minutes. It was impossible 9 months ago.
• Stereotypical actions – are not observed, but according to the parents, the child has periodical stereotypical actions at home.
• Games – though he is not the initiator, he responds to the initiative of adults. He can fulfill one-step instructions and play an easy game for several minutes.
• Perception – actively looks at the environment, listens to speeches.
• He likes spinning, rocking, vestibular actions, tactile stimuli.
• Speech – generally, he is silent, does not use speech for communication. But during a game sometimes he says some syllables.
• Behavior – he does not fulfill more complex (two-step) instructions – does not show initiative in contact with adults, though he watches and listens. He does not actively examine the surrounding circumstances.
Conclusion: we face an indefinite type of deviation of pervasive development.The results of examination prove positive dynamics of child development. The child needs special further observations and a special program for stimulating development.


Investigations
08.03.2006
MRI examination was carried out - T2 (tse), PD (tse), T1(fl) impulsive sequence, axial, coronal and sagittal projection.
Due to incorrect position of the head of the child the brain structures are shown asymmetrically in the slices on the picture. In brain substance local brain damages are not revealed. Subarachnoid space and brain cisterns are normal, without deformation. The range of myelinization is adequate to his age. The sellar area and brainstem - without deviation. Retrobulbar spaces are normal. Conclusion: MRI examination results do not reveal any significant deviation from norms.

28.03.2007
Serum
Gliadin - IgG - Antibodies 26 (Norm <17)
Gliadin – IgA - Antibodies 51 (Norm <17)
Alanine - 28.5 (Norm < 51 mg/L)
Arginine - 16.5 (Norm < 22 mg/L)
Aspartic acid - 2.0 (Norm <4 mg/L)
Glutamic acid - 8.5 (Norm <13 mg/L)
Glycine - 21.0 (Norm <32 mg/L)
Histidine - 7.8 (Norm <17 mg/L)
Isoleucine - 5.0 (Norm <20 mg/L)
Leucine - 12.0 (Norm <25 mg/L)
Lysin - 8.9 (Norm <38 mg/L)
Methionine - 4.5 (Norm <6 mg/L)
Phenylalanine - 15.5 (Norm <27 mg/L)
Serine - 12.2 (Norm <17 mg/L)
Threonine - 11.7 (Norm <26 mg/L)
Tyrosine - 10.5 (Norm <17 mg/L)
Valine - 18.4 (Norm 35 mg/L)
The profile of amino acids is not pointing towards an inborn error of metabolism.

18.05.2007
Chl. trachom. IgA - 0.3 (negative)
Chl. trachom. IgG - 0.2 (negative)
Toxoplasma IgM - 0.34 (negative)
Toxoplasma IgG - 5.0 (negative)
HSV IgM - 3.0 (negative)
HSV IgG - 2.0 (negative)
CMV IgM - 0.45 (negative)
CMV IgG - 8.0 (negative)
EBV (VCA) IgM - 8.0 (negative)
EBV (VCA) IgG - 2.0 (negative)
IgE (total) - 7.0 (negative)
Giardia Ab - 5.0 (negative)

24 Hours – Urine (1) 960 ml
Porphyrins in Urine - 35 (Norm <150)
Uroporphyrins < 10 (Norm <33)
Heptaporphyrins <10 (Norm <10)
Hexaporphyrins <7.0 (Norm <7)
Pentaporphyrins <5.0 (Norm <5)
Coproporphyrins 32 (Norm <120)


18.07.2007
Material - Faeces
Forms of faeces - Formed stool
Consistency of faeces - Porridge
Colour of faeces - brown
Mucus - 0
Blood - 0
Pus - 0
pH - 7.0
Epith. Cells - 0
Erythrocytes - 0
Leucocytes - 0
Undigested food - Vegetable cells, moderate amount in the f/v
Starch granules - Moderate amount in the f/v
Fatty acid crystals - 0
Muscular fibers - Large amount in the f/v
Fatty drops - Small amount in the f/v

Bacteriological examination of large intestine microflora (amount of bacteria in 1 g examined sample)
Total amount of E. coli - 2 x 106/g (Norm 107 – 108/g)
Weakly fermenting E. coli - was not discovered (Norm < 10 %)
Hemolytic E. coli (%) - was not discovered
Lactozanegative enterobacteria - was not discovered (Norm < 5 %)
Total amount of coccal forms - 13 % (enterococci) (Norm < 25 %)
Hemolytic staphylococcus % in the total amount of coccal forms - was not discovered
Bifidobacteria - 107 / g (Norm 108 – 1010 /g)
Candida spp - was not discovered
Proteus spp - was not discovered
Lactobacteria - 107 / g (Norm 106 - 108)

19.07.2007
Serum (1)
Gliadin – IgG – Antibodies - 12 (Norm <17)
Gliadin – IgA - Antibodies <3 (Norm <17)

Urine (1)
Creatinine in urine - 0.82 (Norm 0.4-2)
Organic acids
Adipic acid - 1 (Norm 0-140)
Succinic acid - 63 (Norm 0-350)
Glutaric acid - 1 (Norm 0-60)
Glycolic acid - 8 (Norm 0-130)
3-Hydrocybutyric acid - 20 (Norm 0-50)
4-Hydrocyphenylacetic acid - 40 (Norm 0-250)
Methylmalonic acid - 1 (Norm 0-50)
Lactic acid - 25 (Norm 0-220)
Oxalic acid - 75 (Norm 0-40)
The remaining organic acids could only be detected in traces and are therefore unsuspicious. The profile of the chromatogram is not pointing towards an inborn error of metabolism.

Questions:
1. Is this metabolic disorder or alalia or autism?
2. Is it necessary to perform additional investigations? What investigations shall be performed?
3. Is it necessary to perform genetic investigation? What type of genetic investigation can be recommended?
 Dr. Chan Lowe - Sat Aug 18, 2007 12:29 am

User avatar Hi Eka,

While I am a pediatrician I am not a specialist in developmental problems so this is not my strong point.

While reading through this history a few things caught my attention. 1st, it sounds as if the child was developing normally until about 1 1/2 years old, then actually went backwards a bit. This is very concerning. Many developmental disorders have failure to progress in development but not many actually cause regression.

I would be concerned that something more than alalia is going on since it appears he has some problems with social interactions and other characteristics beyond just his speech.

An autism spectrum disorder does sound like it is possible. There is some evidence that some patients with autism will see improvement when going on a gliaden free diet.

If there is a developmental pediatrician in your area I think an evaluation by that doctor would be very valuable. Another possibility would be to have him see a pediatric neurologist.

You may want to test for heavy metals as well.

This is a fascinating case. Please keep us updated if you don't mind.

Best wishes.

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