The child was referred for evaluation of

fever,gait disturbance,visual loss

Patient Data:
Age: 8
Gender: Male
Race: Asian



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MRI of the brain demonstrates confluent and
symmetric bilateral hyperintensities in white matter of
the parieto-occipital regions, corpus callosum, acoustic
radiation, inferior colliculus.lateral leminiscus, pons,
cerebellar peduncle etc.
X-linked adrenoleukodystrophy (ALD) is a genetically determined metabolic
disorder that manifests clinically as dysfunctions of the central nervous
system (CNS), adrenal glands, and testicles. These dysfunctions are related
to excessive accumulation of very long chain fatty acid (VLCFA) in tissues
and plasma, which is caused by the failure of oxidative degradation of
VLCFA that normally takes place in peroxisomes.There is widespread
demyelination of white matter ( particularly bilateral parieto-occipital
region ) with inflammatory reaction and atrophy of adrenal cortex..
Two year old child with neuronal regression
Patient Data:
Age: 2
Gender: Female
Diffuse confluent periventricular
and deep white matter increased
T2 signal intensities with sparing of
subcortical U fibers,
predominantly in the bilateral
parietal region. Linear hypointense
signals also noted in the white
matter giving tigroid appearance.
Metachromatic leucodystrophy
5 year old boy
Macrocephaly & 'J' shaped sella
ands Proximal pointing metacarpals &
angulated radius and ulna
Inferior end plate beaking & oar shaped ribs
Hypolastic inferior ilium Hypolastic inferior
ilium and and coxa valga.
Image set description: The Skull shows
macrocephaly and J shaped sella, the hand
radiograph shows proximal pointing
metacarpals, the DL spine radiograph shows
hypoplastic dorsolumbar vertebrae with
anterior beaking of the inferior end plates and
the pelvis radiograph shows hypoplasia of the
base of the ilia with enlargement of the
acetabulum & coxa valga.
mucoplolyscaridosis
Mucopolysaccridosis Tapering of the distal
phalanges and widening of the distal ends and
tapering of the proximal ends of metacarpals.
Mucopolysaccridosis Tapering of the distal
phalanges and widening of the distal ends and
tapering of the proximal ends of metacarpals.
Mucopolysaccridosis There is straightening of
the dorsal lordosis. The inferior-most thoracic
and superior-most lumbar vertebral bodies
show an abnormal shape with anterior notches
on either the superior or mid-thirds, as well as
a degree of inferior beaking. The interpedicular
distance is preserved.
Mucopolysaccharidosis with thoracolumbar
kyphosis.
Patient with coarse facial features, cardiac
murmure, gibbus and dental decay.
Patient Data:
Age: 3
Gender: Male
Race: Middle eastern
Bullet-shaped metacarpal bones and
phalanges.
Slanting/ convergent distal radius and ulna.
Osteopenic appearance of the wrist and hand
bones with diffusely coarse trabecular bone.
Abnormal vertebral bodies, particularly at L2
where there is anterior inferior beaking and
focal kyphosis.
Grossly abnormal skeletal survey.
Wide iliac wings, narrow iliac body and
hypoplastic acetabula.
Short, wide tubular bones and pointed
metacarpals with small carpals