Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Jan 4, 2013.
Fetal alcohol syndrome.
I agree, this is a case of fetal alcohol syndrome....but in addition there is another issue ( opthalmologic ) - can anybody pick it.
Fetal alcohol syndrome
Answer : Fetal alcohol syndrome
fetal alcohol syndrome
small palpebral fissure ..if m not wrong
that's part of fetal alcohol syndrome...there is something else
Hint: the child is looking straight ahead ( possibly at the camera ), but he has turned his head in a peculiar way
Self Assessment Question
Patients with genetic disorders or those affected by specific teratogens in utero, typically have certain characteristic dysmorphic features. Match this physical description with the genetic or teratogenic abnormality: a 2-year-old boy, less than the 5% for weight and height, is in early childhood intervention for developmental delay. He has a short nose, thin upper lip with thin vermillion border, a VSD, and short palpebral fissures.
A. Trisomy 21 (Down syndrome)
B. Trisomy 18 (Edwards syndrome)
C. Holt-Oram syndrome
D. Diabetic embryopathy
E. Fetal alcohol syndrome
F. Turner syndrome
G. Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is characterized by thin fragile skin, easy bruising, and joint hypermobility. Mitral valve prolapse has been reported. There are several different variants. One of these variants, the vascular form (type 3), can result in rupture of the aorta.
Trisomy 21, also known as Down syndrome, is easily recognized in older children and adults, but may be more difficult to diagnose in infancy. Characteristics include upslanting palpebral fissures with epicanthal folds, hypotonia, small ears, and a single transverse palmar crease. About half of patients with Down syndrome will have some type of cardiac abnormality.
Holt-Oram syndrome is characterized by abnormalities in the upper extremities, hypoplastic radii, thumb abnormalities, and cardiac anomalies. Occasionally the pectoralis major muscle is missing in Holt-Oram, and as such it needs to be considered when discussing Poland syndrome.
Mothers who consume alcohol during pregnancy put their infant at risk of fetal alcohol syndrome. Key features include growth retardation, short palpebral features, short nose, thin upper lip, mental retardation, heart defects, and behavioral abnormalities.
Turner syndrome (XO) is characterized by short stature, low ears, a wide chest with widely spaced nipples, broad based neck, low hairline, extremity edema, and congenital heart defects (typically coarctation or bicuspid aortic valve). Intelligence is normal.
Trisomy 18 (Edwards syndrome) babies are small with low-set ears, a prominent occiput, a short sternum, a closed hand with overlapping fingers, cardiac defects, rocker-bottom (rounded) feet, cleft lip and/or palate, and renal and genital abnormalities. Mortality is 50% in the first week and 90% in the first year.
Infants born to diabetic mothers are frequently macrosomic and may become hypoglycemic. However, they can have many other problems as well, including cardiac septal hypertrophy, congenital heart disease, caudal regression, vertebral defects, and a single umbilical artery.
The answer is E.
abducens palsywin k) right ?
[FONT=&]Some basics in the interest of those who may have forgotten some of this stuff ( including me )[/FONT]
To sum it up in a table[/FONT]
[TABLE="class: grid, width: 500"]
Now coming to the child in the Spot Diagnosis
The neck is tilted”¦so the child is trying to compensate for a rotational problem.
Now the 2 possible rotations around the orbital axis are extorsion ( Inf Obl - CN 3 ) and intorsion ( Sup Obl ”“ CN 4 ).
In CN 3 the eye will be down and out”¦so that’s ruled out
In CN 6 ”“ lateral rectus palsy, there is no rotational component.
So let’s narrow it to CN 4 and try to explan what we see ”“
First the Normal axns ( refer table above )
Prim axn ”“ intorsion Sec axn ”“ depression Tert axn ”“ abduction
So paralysis will cause ”“ extorsion, elevation (hypertropia) and adduction of the affected eye. Tilting the head away from the side of the lesion will help compensate for all the 3 movements”¦..think about it”¦but that is if amblyopia has not set in ( following amblyopia, there is no head tilt and the deviation is sometimes very apparent, like in the image below)
Let me explain this further ”“ when we tilt our heads, the sup rectus and sup oblique of the side close to the shoulder will fire ( sup rectus ”“ so that we elevate our eye to fixate back on the object and the sup oblique to correct for the extorsion of the eyeball imposed by neck rotation)..just the opp. happens in the opposite eye. So in an attempt to fuse the images from both eyes, the patien tilts his head away from the lesion.
This also forms the basis of the - Bielschowsky's head tilt test
In patients with superior oblique palsy, the superior rectus muscle’s action is not counteracted by the superior oblique muscles. This leads to vertical deviation of the affected eye when the head is tilted towards the effected eye. However, there is no deviation when the head is tilted towards the unaffected eye because the superior oblique muscle is not stimulated in the effected eye, but rather it is stimulated in the unaffected eye.
We can also pick up subtle cases on lateral gaze testing
Some quick fires ”“ no eom ( absolutely frozen eye ), but good vision + loss of sensation on brow and cheek Ã site: cavernous sinus
Lateral gaze palsy ( CN 6 ) and loss of hearing - lesion is in pons
CN 3 ”“ a) pupil blown ”“ think of aneurysm, b) not blown / not so blown ”“ think of vascular damage due to Htn, DM
CN 4 ”“ thin skiiny nerve with a long course ( emerging from behind pons ) ”“ think of vascular ( Htn, DM ), tumor, trauma ( tractional), congenitlal ( Brown’s syndrome )
Patient will complain of diplopia on walking the stairs or reading
CN 6 ”“ sharp bent over petrous ”“ think of raised ICP causes including psudo intracranial htn ( in fertile, fat female or acne Rx or overdoing vit A ), congenital ( Duane’s syndrome )
Bottomline ”“ So next time we see somebody tilting their head / neck, apart from assuming that they have developed an attitude ”¦ we should think of the other causes of CN4 palsy.
Or if somebody says their neck hurts and you notice that it is tilted to one side ”¦.the pain is becos of foraminal compression, but the tilt could be becos of”¦.
So the first thing is to do a fundoscopy and look for papiledema b4 asking for a CT scan.
Of course if it’s ur first encounter and if it turns out to be congenital from history”¦then we can turn off the smoke alarm.
So this is a case of fetal alcohol syndrome + Brown syndrome affecting the left eye
I think I have beaten this to death and sorry if I sounded a little boring.
P.S - the adduction that u r seeing is becos of the inf rectus and medial rectus joining forces and overpowering the inf. oblique..while looking straight on the med rectus is more in play then the lat rectus ( convergence )
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