Renato COCCHI,
neurologist and medical psychologist
Abstract.
It is broadly described the case a child of
about 3 years at the first examination, with severe hypotonicity, motor delay, mental and speech retardation,
and with brain micropolygiria.
After
19 months, improvements of the muscular tone, of the mood, of the attention and
of speech, of the hands use and legs movement, and even of the non specific immunity were reported.
The case history.
01.14, 2002. Male, born in the 1999, he is the
second-born, with an elder sister in good health. Definite factors of genetic
risk were not found, and his parents did not have any blood-relationship.
Delivery was
asserted as without problems, but with
light cyanosis and respiratory distress. Apgar's index 7-8. Weigh to the birth:
At seven months
the examination for possible dysmorphic syndromes brought to that: Weigh
between 10th and 25th percentile; Length to the 75th percentile, cranial
circumference between the 25th and the 50th percentile, ample and fleeing
front, withdrawal of the implantation of the hairs, kind to the left side. In
correspondence of it, in the zone frontal-parietal there is a cheloid scar of
some cm of length.
The dysmorphic
traits observed do not fit any frame of a specific syndrome.
A further cerebral
MNR had this report: " The ventricular system appears in axle, even if
ill-shaped, mainly in the right side.
Brain grooves are anomalous in
both sides of the silvian areas with anomalies of the corresponding cortical
pattern, mainly to the left.
The behavioural observation described him as
"a floppy child without head control and of trunk control, much irritated
and drowsy. He has difficulty to hold
the objects in hand: little attempts of grasping in his side position."
Current conditions
(at first consultation): He lacks the control of the head, and of the trunk. I noted a first type grasp
( the cap-like) by the right hand and tendency to the retro-pulsion of the head
and of the trunk.
There is an
evident consumption of energy, but sleeping helps him to recuperate it.
Therapy prescribed (daily doses): Glutamine 125mg;
vit. B1+B6+B12 125mg + 125mg + 500mcg; tetrahyidrofolates 7.5mg; oxazepam 2mg.
03.04, 2002 The parents say that he is going
better, a fact confirmed even by the
physiotherapist and by the child neur.-psychiatrist, both intentionally not
informed about the current drug therapy of the child.
When he has eaten
a few in the evening, he is hungry at night. If he is doing well, he can sleep
even till the 8.00 AM.
Drug variations
(daily doses): Glutamine about 187.5mg, oxazepam 2.5mg.
05.13, 2002. He
has much more attention for what happens around him, he laughs more, and wants to play. Being more tonic, to times he has
more strength to get up. When in a new place, he seems more motivated to
maintain better his head's control. He wants to grab more.
He tries more to
use his voice. When he is playing he takes an oath cry (to intensify his
effort? ). Rarely he has flexing hypertonic fits which seem voluntary. He has
increased tickle feelings, which he likes. Now, he recognises always the
persons, also those rarely seen.
When held back for
the shoulders, he forces himself to walking. No more needs for cortisone.
New therapeutic
prescription (daily doses): Glutamine 250mg;
Creatin-phosphate 500mg, oxazepam 3mg, Vit. B1+B6+B12
125mg+125mg+500mcg, tetrahydrofolates 7.5mg.
09.09, 2002. He is
going better.
Motility: He is more tonic with more strength in
the legs, which he moves in alternate way. He has moments of flexing and extension of the legs,
when he lay in supine position. On bed,
as half-awaking, he is going by himself
from the supine position to the right side ( a new acquisition ).
Current drug
therapy (daily doses): Creatine 1000mg;
B1+B6+B12 125mg+125mg+500mcg in
alternation with tetrahydrofolates 15mg, oxazepam 4mg, glutamine 250mg.
02.03, 2003 For the parents he is going better.
Motility: The muscle of thighs are a little strengthened. In supine
position he moves his legs in alternate way. There have noticed improvements of
the muscular tone, but his mother, when holds him in arms, feels him more
tonic. There is poor control of the head, not modified. When he is supine, he
may turn even on the left side. He was successful to lift the head from the
prone position. When asked ( "Give me five ") he beats his hand against
that of his mother. Sometimes he holds the thumb covered by the other fingers,
but for a little. When he plays with his sister, he shows increased motor
abilities.
The parents saw
his head rotating even towards the left side. In a sitting position, the
approach to the prehension is sweeping-like. His prehension is palmar, and
sometimes thumb-fingers type. Now he has more strength in holding an object
between his hands. With his hands he goes to take the cords of his plush
jacket, with a prehension that seems really thumb-fingers type. He likes to
upset the objects with a provocative intention. When he did not attend the
kindergarten ( Christmas and New Year's holidays) he showed more energy. He
wanted to play and his nap in the afternoon delayed towards 4:00 PM, instead of
the usual 1:00 PM. The squint is still present, but it seems now alternating.
Feeding and bowel function: The taste is more developed, and he relishes
the foods. Now, he knows more the tastes, he looks for fewer sweet things and
appreciates flavouring foods like the pizza. If there is something that he
dislikes, he blows it out of, as if he spitted it (a new acquisition ). In the
kindergarten he eats anything and nearly his whole portion. At dinner he eats a
few, but before going to sleep he drinks 200ml of milk with six cookies.
Perhaps he started to chew something. Usually he swallows semisolid foods after
he has it sucked. The mouth is usually opened, but when eating, he holds it
closed while he is sucking the food. His stomach goes better, after otherwise
regulated the morning therapy. The vomit is a rare event ( He always takes
omeprazole). His bowel function runs normally.
Emotivity: He shows more his feelings. When happy, he laughs much, with
spontaneous laughing. He used to manifest his cheerfulness with particular
babbling when one approaches the mobile telephone, when his mother phones from
the work place and speaks him, while in past he cried. Some sameness occurs. At
home, only now he accepts to be feed by his mother, other than his father. When
goes out on the car, he succeeds to rest longer on his seat, but if there is
another, after a little he wants to come by arms. In the kindergarten shows cut
off preferences for the classmates, by accepting fewer of them.
General health: He caught gastritis and flu, and took antibiotics,
salbutamole and beta-metasone. A part from it, he was doing well. He already
needed to take care of three teeth.
Intelligence and language: In the kindergarten he pays better attention,
and he understands more. The babbling is increased for quantity and perhaps he
utters two deliberate sound sequences substituting of two words. He has pointed
out exact tasks in his family, the sister for the game, the mother for
attending him, the father for feeding him. He has a clean feeling of the time
passing that, probably, he has related to certain repeated actions to the same
schedule of anyone who is strictly around him. Normally, he is more lively in
the morning.
Therapy variation (daily dosing ): Vit.s B1+B6+B12 12 were substituted with
Supradyn (a polyvitaminic with mineral salts ) 1/2 tablet every second day,
alternating with tetrahydrofolates 15 mg.
02.09, 2003.
Motility: When relaxed he inclines to keep his
right hand in a supine position. Perhaps he had a flu in August, for which he
took antibiotics. He much agitated while he did this treatment and he was
becoming stiffened (This is a new fact ). Stiffness lasted even some hours It
occurred the same with the chicken pox, in the last March. His arms' bicepses
are more evident. When taken in arms, he is moving to reach the position that
likes him more. Rolls on the trunk, from the right side to the left side, when
he wants be taken in arms.
To reach one objet
with his hands, sometime he has either the sweeping approach either the cap
one. It seems that the parents saw even a kind of thumb-finger taking. He is
doing even the shiatsu therapy. When asked "Give me your hands" he
understands it and usually he gives the left hand. The control of the head can
be maintained for some seconds, ten to the maximum. One motor rehabilitation
therapist is seeing him as improved.
General health: He did well. He had some nervousness in
reply to the warm wind of the south (sirocco). In those days he had troubles in
maintaining his sleep. Parents have sometimes seen his sex as erected both the
awakening and during the day, after a hormonal treatment for the retention of
the testicles.
Now, the face
colour is rosy. He doesn't signal the urine or the faeces losing. Not more cool
hands and feet reported. Esophageal reflux is controlled with a compound of
alginic acid and baking soda, and omeprazole. Currently, he doesn't vomit more
but when is badly. The pediatrician found him physically improved.
Intelligence: He shows to be more intelligent by
understanding some simple command. When asked "Give me your hands" he
understands it and usually he gives the left hand. By night, he takes an oath
gesture and uses a word for signalling that he is thirsty or hunger.
Verbal language: There are lallation and repetition of
the meaningful syllable ( the initial, or usually the final one). The
inflection of the voice increased as for variety and frequency of use. He knows
how to blow, and provokes a little by spitting feed while eats.
Emotivity: He likes repeated little noises. He is
more serene. In some days he is more satisfied. When he understands that a
parent is moving away from home, he whimpers. When scolded, he cries, but it
has always done it.
Bowel function: No differences from the precedent consultation.
Feeding: The intake amount did not change. There
is an increased food choice. The mastication improved a little.
Probably the
prescribed therapy did not vary because a low dosing new drug made discussion
with his pediatrician, and perhaps there was not any compliance.
Discussion.
A review of the
literature between 1960 and 2002 with
keywords microgiria, micropolygiria, and polymicrogiria did not get any result.
None of the three
be suitable to our case and the second one has been denied even for the
plasmatic normal range of long-chain fatty acids.
At the first
consultation I found instead some symptoms of stress, as:
- The child does
not like the warmth (Cocchi, 1988; 1989);
- He shows URTI
easiness (Cocchi, 1981; 1987; 1988; 1988b; 1999a; 1999b; 1999c);
The first one is
that of avoiding the parents to get uncritical negative advice before starting
the drug therapy (this happens often, in the opposite case).
Surely to
prescribe a benzodiazepine, even to low dosing, to a child very hypotonic,
conceptually seems a heresy. The second one concerns the absolute trust of
their positive judgments, if any.
As for the current
results, there is a clear trend to an increased muscular tone, a better mood, attention
and speech. Even symptoms that seem purely
neurological (the use of the hands), nearly surely showed an
improvement also for immunity.
The drug regimen prescribed till now acted on
glutamate and GABA (glutamine, vit. B6, oxazepam), on the ATP (glutamine and
creatine), on cell-mediated specific (oxazepam] and glutamine), on peripheral
neurons as neurotrophic factors (vit. B1, vit. B6 and vit. B12 ), and on blood red cells (vit. B12 and folates).
Surely 19 months
of therapy is not much, for such a complex case, but what seemed a static
situation is now in motion, and even the few is always a profit.
Conclusions.
The case a child
of about 3 years to the first examination, with serious hypotonicity, delay
motor, mental and of the language, and with cerebral micropolygiria, detected
by the NMR, was broadly reported.
After 19 months,
improvements of the muscular tone, of the mood, of the attention and of speech,
of the hands and legs use,and even of the
non specific immunity were reported. Still a time an antistress drug
therapy allows to get some results in a case where one thinks not possible to
act.
References.
Cocchi
R. Susceptibility to infective respiratory diseases in depressed children.
Epidemiological survey of 126 subjects, clinical-therapeutic report of 61
cases. Acta psychiat. belg. 1981, 81: 350-365.
Cocchi R.: Hypo-A-Gaba-erge Depression bei
Kindern. Klinisches Bild und mit neurochemis-ches Mechanismen
Verbundene Symptome. In: Friese H.-J., Trott G.-E. (hrsg): Depression in
Kindheit und in Jugend. Huber, Bern 1988: 126-133.
Cocchi
R.: Sensibilita` alla temperatura ambientale nei soggetti Down: una
indagine su 432 casi. Riv. It. Disturbo Intellet. 1989, 2: 195-199.
Cocchi
R. Precursori diretti del glutammato e del GABA e abitudini alimentari nei
Down: Indagine
epidemiologica su 460 soggetti. Riv. It.
Disturbo Intellet. 1990, 3: 307-312. (English translation on this site).
Cocchi
R.: Easiness to upper respiratory tract infections: An investigation on 510
Down's syndrome persons. It. J. Intellect. Impair 1997, 10: 143-149.
Cocchi
R.: Drug therapy of upper respiratory tract infections' easiness in
Cocchi
R.: Drugs therapy of stress on upper respiratory tract infections easiness in
Cocchi
R.: Glutamine as the key amino acid in promoting cell-mediated immunity: 20
years of clinical experience. Amino Acids 1999a, 11: 104 (abstract of the
paper).
Cocchi
R.: Antidepressant and immuno-modulatory activity of l-glutamine. It. J.
Intellect. Impair. 1999b, 12: 23-29.
Cocchi
R.: Glutamine as the key amino acid in promoting cell-mediated immunity: 20
years of clinical experience. Amino Acids 1999c, 17: 104.
First published on Internet on June 2002: Copyright by
Renato Cocchi, 2002.
renatococchi@libero.it