FOETAL ALCOHOL SYNDROME (FAS)

-

F

 

oetal Alcohol Syndrome, a congenital abnormality or disorder caused by consumption of alcohol by the mother during pregnancy, which includes mental retardation, growth retardation and retardation of growth of the skull and facial bones.

No amount of alcohol is safe in pregnancy and thus it is not fit to drink alcohol.


Occurs in all races and ethnicity. Ranges from 1in 1000 to less than 1 in 10,000 live births. Estimated 1-2 cases per 1000 live births in the United States.

Pathophysiology – Alcohol crosses placenta and reaches the foetus. Foetal liver does not have adequate Alcohol Dehydrogenase enzyme (ALDH) and other anti-oxidants such as glutathione. Amniotic fluid acts as a reservoir for the alcohol, prolonging the foetal exposure. Aldehyde (a metabolite of alcohol) inhibits cellular migration and inhibits DNA and protein synthesis. Aldehyde modify the metabolism of fats and carbohydrates. They reduce the amount of amino acids, folic acids, carbohydrates, proteins that reach the foetus and this affect its development.

Signs and Symptoms –  

1.    Growth retardation.

2.    Smooth philtrum

3.    Thin upper lip

4.    Small eyes

5.    Short upturned nose

6.    Flattened cheeks

7.    Small jaw (maxilla and mandibles)

8.    Microcephaly

9.    Mental retardation

10.  Hyperactivity

11.  Impaired language development

12.  Seizures

13.  Delayed development of gross motor skills and fine motor skills.

14.  Heart murmurs

15.  ASD, VSD (Atrial Septal Defects, Ventricular Septal Defects)

16.  Joint Abnormalities, Small distal phalanges, small fifth fingernail.

17.  Strabismus, optic nerve hypoplasia

18.  Horseshoe shaped kidney, aplastic or dysplastic kidney.

Diagnostic criteria’s –

1.    Facial features

2.    CNS underdevelopment

3.     Prenatal alcohol exposure

Treatment –

1.    Psychoactive drugs

2.    Behavioural intervention

3.    Do not drink alcohol during pregnancy and after pregnancy.

 



Comments

Post a Comment

Popular posts from this blog

CAH - CONGENITAL ADRENAL HYPERPLASIA

-
Image
C   ongenital Adrenal Hyperplasia or CAH, is a disorder which is characterised by defects in enzyme that lead to various effects.  The most common enzyme affected in CAH is 21 hydroxylases enzyme. The second most common enzyme to be affected is 11-β-hydroxylase enzyme. The gene CYP 21A 2 is affected, this is the same gene that codes for 21 hydroxylases. The following image shows the steroid pathway that takes place in the adrenal glands, where cholesterol is the basic material used for synthesis.  Here 21 OH stands for 21 Hydroxylase, 11 beta signifies 11-β-hydroxylase. As the normal physiological process, 21 hydroxylase enzyme acts as an important enzyme for synthesis of corticosteroids and mineralocorticoids. As there is 21 hydroxylase deficiency there will be reduction in the production of corticosteroids and mineralocorticoids. Due to deficiency of mineralocorticoids, there will be salt and water wasting. As the levels of corticoste...
Read more

Neurosurgery - Telovelar approach

-
Image
 Telovelar approach is carried out for the removal of any pathology that is present inside the 4th ventricle or the rhomboid fossa of the brain. The Space seen here behind the cerebellum is the rhomboid fossa (Fossa is just a trench or a channel). This rhomboid fossa forms a part of the 4th ventricle, which is connected to the third ventricle above by cerebral aqueduct and then runs downwards into the spinal cord as the central canal of the spinal cord, carrying the CSF (CerebroSpinal Fluid). The part behind the PONS and between the white core of cerebellum is called as the 4th ventricle. {For more information on anatomy of brain, please refer to our another blog on BRAIN}
Read more

THE BRAIN

-
Image
T he Human brain is by far the most complex structure to be ever build. Its complexity has dazzled majority of the people since last century and is still the topic of research. The adult brain weighs about 1.3 – 1.5 kg and is approximately 2% of or total body weight, with Surface area of approximately 1120 cc in males and 1130 cc in females. In spite of its small size it contains millions and billions of neurons that carry out daily functions of the body and may be create someone like Einstein whose brain is still preserved for research purposes. The basic functional unit of brain is called as a neuron. It is a specialised type of cell that has the capacity to conduct and transfer electrical impulses, but once damaged can take years to regenerate. There are various types of neurons and are classified according to – A)   The number of dendrites/processes B)    The length of axons According to number of processes they are 1.  ...
Read more