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Hpathy Ezine - March, 2004

Case of Cornelia de Langue Syndrome, Mental Retardation

- Dr. Jawahar Shah

 

Child 14 months old, Master Sunder, was brought to me for delayed development.

The main complaints were of poor weight gain [5.5 kg]. Mental development was very slow and there was no teething / talking.

When I saw the patient for the first time, he looked like a baby monkey. His face, expressions and movements were like that of a small baby monkey. He had plenty of hair all over his body +10. He had bushy eyebrows, long eyelashes, a small nose and thin drawn up legs - features evident of Hirsutism ++.

Life situation:
The child's mother had a lot of tensions and worries during the pregnancy of this child. The reason being that the mother came from a community where a girl has to be given a heavy dowry, and so the mother of this child wanted a male child. She would always be worried whether she would get a boy or girl. Her sleep was disturbed 3+ and she had severe complaints of acidity 3+ and vomiting 3+ during this period. She would often get up worried at night and would dream that someone was harming her. She felt neglected during pregnancy as there was not much cooperation from her husband.
(In the past, she had gotten an amniocentesis done and went in for an abortion as it was a female child)

Personal history

Appetite           -      Less 

Craving            -      Sweets +3

Aversion           -      Nil

Bowel              -      Constipated, passes stool every alternate day.

                                Feels better after burping; otherwise vomits.

Sweat               -       +++ fan is must, likes air conditioning

Urine                -      Nil

Sleep                -      Gets up with a startle; when patted goes back to sleep.

Thermal modality – Hot

     Bath           -       Tepid

     Cover         -       Aversion

     Weather     -       Comfortable in winter

Past history

Birth weight 2.2 Kg.

P/H/O. Bronchitis, cold, cough, constipation frequently

Cleft palate - operated 3 months back.

Tongue tie - operated

F/H

Mother  -       Cold++                MGF     -      Diabetes

 Clinical examination

O/E Flat head, fontanelles open

            Hair +10- face, back and all over body, Eyebrows bushy

            Hirsutism

            Undescended testes ++ bilateral

 
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