Case:Congenital Hypothyroidism

A boy of 7 months, 4.9 kg wt of nonconguinous parents presented with coarse facies,horse cry and constipation. He has also history of prolong jaundice after birth. The pateint has developmental delay- he has social smile but no neck control.

On examination, in addition to coarse facies and horse cry, the patient has lathergy, rough skin, mild anaemia, abdominal distention and least interaction.

X-ray of the lower end of the femur has shown the presence of epiphysis but the hormone assay shows TSH 100 mIU/L(N:0.7-64mIU/L) and T4 3.0 microgm/dl( N: 6.1-14.9 microgm/dl.The blood Hb 10gm/dl,TC DC ESR normal.

The patient is given thyroxine which will be gradually increased and will be continued throughout life. The patient is showing sign of improvement even after few days treatment.

Dr. Badrud Doza

Links:
Congenital hypothyroidism-e-medicine

Guest Post: Common Birth Defects and Their Causes

The birth of a baby is a joyous occasion, one that brings smiles to the faces of the parents, friends and family and cheer all around. But there are times when things go wrong and children are born with some defect or the other and the parents are devastated. The questions that are normally asked include:

• Is my baby ok?
• What’s wrong with him/her?
• Is it our fault or is it something we did that our child was born like this?
• Is there anything we can do now to make things right?
• How soon can any correctional procedure be done?
• How much will it cost?
• What are our child’s chances of coming through it successfully?
• Will our child be able to lead a normal life?
• If not, what can we do to make it as normal as possible?

Of course, the questions differ from family to family, and the decisions vary accordingly too.

The most common birth defects are those related to missing, extra or deformed limbs – some children are born with a club foot, deformed hands/legs, and missing or extra fingers. The next highest occurring defect relates to the heart with children being born with holes in their heart. Other common defects include those that affect the spinal cord, the face (cleft lip and palate), the intestines and stomach, sexual organs, and chromosomal problems like Down’s and Klinefelter’s syndromes where the presence of an extra chromosome or the absence of an essential one contribute to make the child different.

Birth defects are mainly caused by genetic factors, with known conditions causing 25 percent of all abnormalities. The parents may not have the same affliction because they may be just carriers, and depending on various factors, the symptoms manifest themselves in the newborn child.

Some defects are caused by environmental factors like drugs, exposure to radiation and chemicals, smoking (by the mother), the age of the mother, and illnesses. Sometimes, it’s a combination of the environment and genes – people with some genes, when exposed to a certain kind of environment, are likely to give birth to special needs children. The same gene, away from the environment that augments the possibility of the deformity, is passive and does not manifest in the child as an abnormality.

Pregnant women can reduce their risks of giving birth to babies with defects by getting themselves tested in each trimester and by avoiding exposure to environmental factors that are known to cause abnormalities.


• Heart abnormalities represent the next most common category of defect. Common heart defects include 'holes in the heart' where blood can pass from one side of the heart to the other. Again, these may not all be detected at birth.
• The third most common kind of defect affects the spinal cord, such as spina bifida.
• Other defects commonly observed include those affecting the face (such as cleft lip and palate), problems with the development of the intestines and stomach, and problems affecting the sexual organs.
• Major chromosomal problems such as Down's syndrome (Trisomy 21) are found in about 0.15 per cent of births (about three babies in every 2000).

By-line:

This article is contributed by Sarah Scrafford, who regularly writes on the topic of Radiology Technician Schools. She invites your questions, comments and freelancing job inquiries at her email address: sarah.scrafford25@gmail.com.

Case: A newborn with nasty hemangioma

I was called in by a Obstetrician to attend a baby immediately after birth in a clinic.
The baby was delivered at 35 weeks by caesarian section.wt was 2.3 kg.
She had a gross extensive hemangioma on the right leg extending from the foot almost completely covering upto the knee and then extending into the thigh. The overlying skin was devitilised and turns to black.The baby had tendency to bleed at points.

My pediatric surgeon collegue was also called in. A light pressure bandage was put on the hemangioma to stop the bleeding which was later released when the bleeding stopped.

The right leg was also grossly abducted, an orthopedician lebelled it as Unilateral congenitakl dislocation of Hip joint.

The baby overcame the initial difficulties and the pediattric surgeopn suggested for skin grafting for the area after child grow a little more.


Dr.Badrud Doza
Dr.Tahera

Link:
Infantile hemangioma-e-medicine