Paroxysmal disorder

A seizure is a transient occurrence of signs and/or symptoms resulting from abnormal excessive or synchronous neuronal activity in the brain.

Epilepsy is considered to be present when 2 or more unprovoked seizures occur in a time frame of longer than 24 hr

An epileptic encephalopathy is an epileptic syndrome in which there is a severe EEG abnormality resulting in cognitive and other impairments.   

incidence of neonatal seizure is 1.8–3.5 % of live births in the United States, 

Two types

1. Focal ( previously known as partial): initial activation limited to one part of brain. Simple focal are without altered conciousness while complex seizure are with altered conciousness such type also k/a focal dyscognitive disorder
2. Generalised: both sides of cerebral hemisphere are involved.

• 30% of chiildren who have a febrile seizure can develop epilepsy
• Febrile seizure: gneralised , fever of 38 deg, no post ictal activity, duration less than 15 min.
• Seizure can arise from brainstem or hemisphere, seizure from one region are less likely to spread to other due to physiological demyelination seen in infants.

Short stature with Intrauterine and postnatal growth restriction

OurD/d:
1. Silver Russel synd:short stature triangular face, microcephaly, unable to gain wt and ht( failure to thrive), asymmetric limb development, clinodactyly

2. Cornelia-de lange: short stature, hypertrichosis, long curved eye lashes, synorphys, aversion to eating, heart disease.

3. Primordial dwarfism
TURNER SYNDROME
+In turner untreated. Cases.....ht is 20cm less than normal(8inch)
AVG ht for turner in India is 4f6in....in west-4f8in

Growth hormone treatment started early at when ht falls less than 5th centile..initial dose 0.5mg/kg/day..
Short stature usually become evident  by 3 yr..so best result obtained if Gh Started less than 4-5 yes
Oxandrolone with GH  give better results in ht gain.....when given late in age
95.% turner have puberty delay

Estrogen replecemnt:. Ethynyl estradiol (lynoral) now not available
Progynova(estriol derivatives)....1mg /day

Neuro notes

FLAIR image in MRI
Fluid attenuated inversion recovery

Suppress csf signal in T2 image hence T2 looks like T1 in terms of ventricular shadows since fluid appear black
Useful in :
peri ventricular lesion like Ms plaque, subarachnoid haem ,
meningitis
Also good for musculoskeletal Disorders

+   A  primary disorder  of  the  anterior  horn  cell  body  is  a  neuronopathy, 
a  primary  disorder  of  the  axon  or  its myelin  covering  is  a  neuropathy,  and 
a  primary disorder  of  the  muscle  fiber  is  a  myopathy

+Primary microcephaly...antennal
<5th centile at 20 wks or less than 3rd centile

Usually seen in 3rd trimester

Cause.. infection, vascular disruption, chromosomal..eg wolf Hirsch horn (4p-)
Single gene...cirnalia Dr Lange
Advice...1.MRI...for cerebral malfunction look for ventricle size, lissencephaly, polymicrogyria, neural migration defects.
.. karyotype, microarray
..

Syndrome

Beal syndrome: contractual arachnodactyly with dysplastic ears

Denys-Drash syndrome: affects the kidneys and genital.
Kidneys show  glomerulosclerosis, and develop willm's tumour
Genital ambiguity seen in males, while female have normal genitalia

Meckel grubare syndrome: triad of polycystic kidney, polydactyl, encephalocele

Partial mole withblive foetus

D/D
1. Partial mole: triploidy
2. Twin gest one healthy and other complete mole
3. Placental mesenchymal dysplasia
4. Chorioangioma

Biochemical genetics

GC/MS
Principle:
Separates components in a mixture (by GC) and do molecular analysis by mass spectroscopy (by MS)

mixture will separate into individual substances when heated. The heated gases are carried through a column with an inert gas (such as helium). As the separated substances emerge from the column opening, they flow into the MS. Mass spectrometry identifies compounds by the mass of the analyte molecule. A library of known mass spectra, covering several thousand compounds, is stored on a computer.

Foetal medicine

CRL- from 7-14wks , for foetal growth
BPD- from 22 eka onwards

+ Perigasric calcification , intra cardiac echo foci...Look for cmv infection

Amniocentesis CMV PCR, QF-PCR for 13,18,21,sex chr
In maternal blood...Cmv igm..igg..Avidity