Welcome User!
Case Study

Cornelia De Langue Syndrome
Dr Jawahar Shah

A child 14 months old, Master Sunder, was brought to me for delayed development.
The main complaints were of poor weight gain [5.5 kg]. Slow Mental development and slow milestones-no dentition or speech till date.

When I saw the patient for the first time, 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 Hirsuitism ++.

Life Situation:
Mother had tremendous tension and worry during pregnancy.Main cause-Future Dowry. The mother came from a community where a girl has to be given heavy dowry; the mother, therefore, wanted a male child. She always worried what if she got a girl. Her sleep was disturbed 3+ and she had severe complaints of acidity 3+ and vomiting 3+ during this period. She would start in sleep, worry 3 at night and often dreamt that someone was harming her. She felt neglected during pregnancy as there was not much of co-operation from her husband.
(In the past, she had got an amniocentesis done and had abortion, since it was a female child)

Personal history
Craving-Sweets +3
Bowel-Constipated, passes stool every alternate day.
Feels better after burping; otherwise vomits.
Sweat-+++ fan is must, likes air conditioning
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. Hirsuitism.
Undescended testes ++ bilateral.

Diagnosis: of this syndrome in the case of Sunder was based on following criteria:

  1. Low birth weight.
  2. Facial features-like that of monkey, small head, hair growth, eye brows bushy, etc.
  3. Hirsuitism.
  4. Undescended testicles.
  5. Congenital anomalies-cleft lip and palate
  6. Language delay.
  7. Growth retardation, no teething, etc.
  8. Behavioural problems.
  9. Poor sleep and appetite.
  10. Mental retardation.

Congenital Anomalies, Microcephaly. Cornelia De Lange Syndrome.
1/6/93 Medo 30 3P N SL pill TDS
7/6/93 Playful Active +
Follows object and movements.Makes and attempt to get up. Rx SL
14/6/93 Recognizes small objects like mango, etc.
Activity>> Rx SL
21/6/93 Tooth eruption ++ Rx SL
30/6/93 Turns, recognizes +5 Active on rolls++
Wants to go out. Smiles.When taken out and brought back,sees home and start crying.Recognizes and shows finger to go out.Extra hair has started falling.Rx SL 1-1 for 3 months
11/11/93 Improvement ++++
Can recognize people/objects,mixes around with everyone.Can do many things on his own. Rx SL
12/12/94 Improvement continues. Hair fall +5
Can recognize more objects.Differentiates taste. Rx SL
21/4/2001 Patient is alive till last known with considerable improvement in over all performance mentally and physically.
Patient is 9 yrs old, weight of child is 12 kg and mental age is of four and a half years.

Following improvement observed in the child:

·         Can understand instructions in three languages,English, Gujarati and Hindi.

·         Understands commands well.

·         Recognizes voices of family, friends and makes an attempt to speak on phone.

·         Can hold pencil and scribble.

·         Makes signals and gestures for whatever he wants

·         Likes to keep things in order.

·         Sensitive and moody in nature.

·         Loves to mix with older people.

·         Has developed a good coordination between picture and words.

·         Sleeps well.

·         Loves to listen to music.

·         Can play with beats and rhythms.

·         Can play with others.

·         Desire to travel, to go out, meet people.

·         Shows way out of the house.

·         Recognizes good clothes and appreciates with positive gestures.

·         Loves cold drinks, Mac Donald’s food and insists mother to give such food.

·         Whenever there is a pit, understands and moves accordingly.