Causes of Congenital Malformations

Monogenic: 7.5% of serious anomalies
)) X linked Hydrocephalus
)) Achondroplasia
)) Ectodermal Dysplasia
Chromosomal:
)) 6% of serious anomalies
)) Trisomies 21,18,13.
)) XO,XXY
)) Microdeletion Syndromes

Maternal Infection
)) 2% of serious anomalies Torch
Maternal illness:
)) 3.5 of serious anomalies
)) diabetes mellitus-TGA,Sacral angenesis,Cardiomyopathy
)) Phenylketonuria - Microcephaly
)) Hypothermia
Uterine Factors:
)) Oligohydramnios
)) Amniotic Bands
)) Twinning
Environmental Agents
))Alcohol
))Mercury
))Herbicide
))Radiation
Medications
))Thalidomide
))Anticonvulsants
))Diethylstilbestrol
))Vitamin A
))Cytotoxic Drugs
Nutritional:
)) Folic Acid & zinc Deficiencies.

MULTIPLE MALFORMAION SYNDROMES

* This category includes patients in whom one or more developmental anomalies of two or more systems have occurred, all of which are thought to be due to a common etiology.
* These may be caused by:
-> Chromosomal and genetic abnormalities
-> Teratogens
-> Intrauterine infections.


MALFORMATION COULD BE MAJOR/MINOR
- Severe
- Impair normal body function
- Require surgery for management
e.g. Duodenal artesian, Congenital heart defects and Meningomyelocele.
- The frequency of major malformations at birth is 2-3%
*** MINOR MALFORMATIONS ***
- Primarily of cosmetic significance
e.g small ear,ear tag,polydactyly.
- Serve as tools in the diagnosis of a multiple
malformation syndrome
E.g.. in Down syndrome 78% of the anomalies are minor

IVIG IN PEDIATRICS

INTRODUCTION



Intravenous immunoglobulin (IVIG) are sterile, purified immunoglobulin G (IgG) products manufacture from pooled human plasma from several thousand healthy donors and typically contain more than 95% unmodified IgG , and only trace amounts of IgA or IgM.
IVIG preparations will contain the entire spectrum of antibodies that are present in normal human serum.


STRUCTURE OF IMMUNOGLOBULIN

1.Immunoglobulins are glycoprotiens
2.Each molecule consisting of two pairs of polypeptide chains of different sizes.
3.Smaller chains – light chains
4.Larger chains – heavy chains

COMMON CONGENITAL MALFORMATIONS EXCEPT CONGENITAL HEART DISEASE

CONGENITAL MALFORMATIONS:
DEFINED:As structural malformations of prenatal onset.
1.Those that represent a single primary gene defect
2.Those that represent a multiple malforamation syndrome.

SINGLE PRIMARY DEFECTS IN DEVELOPMENT:

MALFORMATION: A primary structural defect arising from a localized error in morphogenesis.
DEFORMATION: An alteration in shape / structure of a part that has differentiated normally.
DISRUPTION: Structural defect resulting from
destruction of a previously normally formed part.
DYSPEPSIA: Refers to an abnormal organization of cells And the structural Consequences.

6 MOST COMMON single primary defects in development

1. Congenital hip dislocation
2. Talipes Equinovarus
3. cleft lip
4. Cardiac septal defects
5. cleft palate
6. Defects in neural tuve closure

APPROACH TO CYANOTIC NEWBORN

CYANOSIS: Cyanosis in the newborn is Defined as an arterial saturation less than 90% and a pO2 less than 60 torr.

• It is visible if the deoxygenated hemoglobin content is greater than 3 gm per 100ml
• It is the absolute concentration of the deoxygenated hemoglobin than determines cynosis and not the percentage.

CONCENTRATION OF DEOXYGENATED hemoglobin HAS 3 IMPLICATIONS:

• A polcytehmic baby exhibit cyanosis readily whereas it is difficult to diagnose cyanosis in a severely anaemic infatnt unless the oxygen saturation falls much below 90%.
• As the Foetal Hemoglobin has higer oxygen affinity, The new born baby manifests cyanosis when the oxygen content of the blood has fallen much below that expected of an older child.Therefore, a cyanotic newborn should recive immediate attention.
• Peripheral cyanosis is seen when Deoxyhemoglobin increasis due to dluggish peripheral ciculation although the oxygen content of the arterial blodd is normal.

It could be the presenting sign of cardiac conditions such as Hypoplasic left heart Syndrome.

                    

CYANOTIC CHD

INTRODUCTIN

• CHD refers to a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functinla significance.
• CHD affects 1 % of newborn infats.
• 10% of all congenital anomaly.
• may present with respi distress,cynosis,ccf

Drowning -- children

levosimendan

1. It is a new Inodilator 
2. Has a dual mode of action
3. 
   

MECHANISMS OF SEIZURES

• The precis mehanism is unknown.
• Several physiological facotrs.
• Group of neurons generating signigicant bust dicharge.
• impairment of GABAergic inhibitory Systerm.
• Excitatory Glutamatergic synapses & Amino -acids.
• Areas of neuronald death,reorgainzation after injury.
• Kindling.
• Age Specific -- ? undederdeve loped brain.
• Functional immaturinty of substantia nigra.
• Genetic Factors

SEIZURE DISORDERS

INTRODUCTION

1. Common in padediatric age group 10%
2. Most are provokde by some somatic disorder outside the brain
3. <>
   
4. Cumulative lifetime incidence of Epilepsy is 3%
5. For children with epilepsy ,the prognosis is generally good.
6. 10 to 20 % have persistent seizures.

                                DEFINITION

1. SEIZURE: It is a paroxysmal ,time limited change in motor acitvity & /or behaviour thant results form abnormal electrical activity in the brain.
2. Epilepsy: Is condidered to be present when 2 or more unprovokde seizures occut at an interval ov > 24 hours apart.