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

Case: A boy of 4 yrs with Langerhans Cell Histocytosis

Mushfiq, a boy of 4 yrs presented with fever for 7 days, gradual pallor for 2 months, and multiple swelling over the scalp for 1 month.

On admission, he was febrile, toxic and pale. He was undernourished, his pulse was 110/m,BP -105/65 mmHg,respiration 25/m, temp-103 degree F, anaemia +++, jaundice-absent,no bleeding tendency, no lymphadenopathy, no bony tenderness and no hepatosplenomegaly.

The swelling over the skull are multiple,firm, non tender and fixed with the underlying structure.

on investigation, Hb-4.5 gm/dl, RBC-2.06m/cmm, MCV-85.4 fl, MCH 21.8 pg, MCHC 25.6 g/dl, WBC-7500/cmm, Neutrophil-60%,Lymphocytes -32%,Monocytes-04%,Eosinophil-04%. PBF shows anisosytosis and anisocromia with roulex formation, WBC mature with a few myelocytes, platelet suggestive of chronic disorder/infection.



X-ray of the skull shows focal scalp swelling in frontal and parietal region, pepper-potlucencies in the vault and subtle erosion on the outer tables of vault underneath the swelling and sutural diastasis suggestive of Langerhans cell histocytosis with raised intracranial pressure.

FNAC from the scalp growth shows hypercellualr material containing small round to oval cells having lobulated and folded nuclear with opened up chromatin;these cells are arranged diffusely and the cells show mild cellular atypia; the backgrond shows necrotic tissue debris suggestive of 'small round cell tumour' where Langerhans cell histocytosis may be considered.

CT scan of the brain shows extensive intracranial hyperdense massesshowing distribution along dura and frontal parenchyma. No mass effect or midline shift is present; there are multiple scalp swelling , some of them show underlying outer table erosion; there is splitting of sagital and coronal suture. The impression is of Langerhans cell histocytosis.

The patient was refered to special cancer center for further management.


Dr. Badrud Doza
Dr. Harun

Link:
Langerhan's Cell Histocytosis- Boston Children Hospital
Langerhan's Cell Histocytosis-Medscape.com

Case: Ewing's Sarcoma with metastsis to the lung in a boy of 7 yrs

Child Abu Bakhr, 7 yrs male child was admitted into our hospital on 24/10/08 with the complaints of cough for 15 days , low gradw fever for the same period and respiratory distress for last 4 days and swollen edematous right leg for 3 months.

On admission, the child was dyspnic , ill-, pulse -100/m, Respiratory rate-30/m, Temparature -99 d f . on auscultation, pt had bilataeral crepitations all over the lung.

On local examination, skin was erythematous,swollen and tender without any discharging sinus or pus point- the child was a previously diagnosed case of Ewing’s Cell Carcinoma of the tibia and histopathological report was suggestive.

The Child received one cycle of chemotherapy and Radiotherpy 3 months back. On admission, CXR was done which showed wooly ball appearance.

The patient is lebelled as Ewing's Sarcoma with Metastasis to the Lung.


badrud doza
fahim

Link:
Ewing's Sarcoma- Wikipedia

Case: Tubereculoma of the brain

The patient, a boy of 3 years presened with low grade fever for 2 months , neck bending for a week and convulsion for a few times in the last 48 hours.
There was history of contact with the open case of tuberculosis.

On examination, the patient was drowsy, malnourished, neck rigidity and kernig's sign are positive, reflexes are exxagerated.

CSF studies show mild lymphocytosis, sligtly increased protein and decreased noraml sugar.Gm stain and AFB staiin were negative.







The CT scan of the patient reveals multiple small cercular shadows of the brain , the radiologist identified them as Tuberculoma.

The patient was lebelled as a case of Tuberculoma of the brain.

He was given 4 drug antitubercular regimen and gradually improved and dischsrged after 1 month staying in the hospital.

badrud doza

Link:
Tuberculoma of the brain by Bhaskara Reddy & V. Kameswararao
An interesting account on Tuberculoma of the brain by Maurry H. Cambell MD writhhen in 1945

Case: a girl of 4 months with osteogenesis imperfecta

The girl, 4 months of age admitted in our hospital for Pneumonia. But her history reveals # of the rt upper arm at the age of 7 days for which she was taken admission in the other hospital of the city. They made multiple x-rays and found # in other sites also.




She was labelled as a case of Osteogenesis imperfecta and advised the parents to take precaution to handle the baby and provide necessary counselling.



badrud doza

Link:

Osteogenesis Inperfecta Foundation

Case: Neuroblastoma with severe anaemia

Atunu Acharjee, 1 yr 4 months from Chittagong admitted in our hosspital for severe anemia. On examination , a huge mass on the left side of the abdomen, firm, non tender with no notch likely kidney and multiple small masses all over the abdomen were found . Liver was also enlarged 6 cm from the costal margin, firm and non tender.

On evaluation of history, it was found that the patient was consulted in Kolkata 2 months back and CT scan there suggest abdominal neuroblastoma, diffuse tumour infiltration of the left kidny and encasement of large vessels like aorta by the tumor mass.

Laparotomy was done in a hospital there and excised leftsided mass including part of the left kidney.The histopathology suggests Neuroblastoma. Patient was discharged on palliative treaatment from there.

In our ward, we have given the patient blood transfusion and refered the patient to oncologist.


Dr. Badrud Doza
Dr. Abu Sayeed

Link:

Neuroblastoma in Children in Cancerbackup/Uk
Neuroblastoma in NIH