Page 1 of 2: Sachin a 6 year old boy presents with confusion and decreas

BRAVO · Credits: 45704 My Scrapbook

Sachin a 6 year old boy presents with confusion and decreased school performance,he soon develpos a spastic gait with dysarthria and dysphagia.MRI scan shows massive demyelination of the white matter in the posterior areas of the hemispheres,most likely diagnosis is

1)multiple sclerosis
2)merachromatic leucodystrophy
3)adrenoleucodystrophy
4)SSPE

draditithegreat · Credits: 1247960 My Scrapbook

Multiple sclerosis is a chronic inflammatory autoimmune disorder of the central nervous system which constitutes the most common cause of neurological disability in young adults.

Typically a disease of young adults, the diagnosis depends on the detection at least two demyelinating lesions in the brain or spinal cord separated in time and space. The course of the disease is characterised by relapses and remissions with some residual disability. Progressive disability may occur from the outset, but more commonly occurs after several years of relapsing and remitting disease.

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Metachromatic leukodystrophy is an autosomal recessive disorder of sphingolipid metabolism caused by a deficiency of aryl-sulfatase A. The result is an accumulation of lipids such as galactosyl sulfatide.

The disorder may be diagnosed prenatally by amniocentesis and assay of the aryl-sulfatase A activity.

There is a spectrum of disease, but most commonly the patient presents aged between 1 and 4 years with:

progressive motor impairment - inability to walk, secondary to weakness
progressive mental deterioration
end stage disease is associated with quadriparesis, myoclonic seizures and nystagmus
There are juvenile and adult forms of this condition where onset is much later.
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[size=18]
ALD (adrenoleukodystrophy)[/size]

This is an X-linked recessive disorder resulting in the accumulation of long-chain fatty acid esters of cholesterol.

Patients have adrenal insufficiency.

There are two forms of adrenoleukodystrophy:

juvenile form, which begins before age 12, and is associated with progressive deterioration, to death in 3-5 years

adult form, in which there is a slowly progressing spastic paraparesis and peripheral neuropathy, cerebellar ataxia, dementia and hypogonadism
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SSPE is believed to be the result of persistence of the measles antigen in the CNS. About half of cases have had a natural measles infection in their first two years of life.

High titres of measles antibody are usually present in the blood and CSF.

Death is inevitable but long periods of survival have been reported.

Features develop between 4 and 10 years after the original infection, and are attributed to progressive, sclerosing demyelination with severe neurological impairment and include:

mental deterioration - regression of abilities with dementia
strange behaviour
convulsions
myoclonic jerks, which are generalised, repetative and occur at five to ten second intervals
pyramidal signs, with cerebellar ataxia

BRAVO · Credits: 45704 My Scrapbook

age is 6 years.

vineetgsvm · Credits: 122753 My Scrapbook

the case best suits SSPE.
though the Hx of measles hasn't been given but that would have made other options futile

bravo kindly let us know the correct answer

decembermist · Credits: 41121 My Scrapbook

If its SSPE , they shud provide history of measles

It has to be a metabolic d/o .

I wud go with c)

*first of all its a symptomatic MALE

*abN finding in the posterior region

more views

decembermist · Credits: 41121 My Scrapbook

MLD

In all three forms mental deterioration is usually the first sign.

In the late infantile form, which is the most common, onset of symptoms begins between ages 6 months and 2 years. The infant is usually normal at birth, but eventually loses previously gained abilities. Symptoms include hypotonia (low muscle tone), speech abnormalities, loss of mental abilities, blindness, rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia.

Symptoms of the juvenile form begin between ages 4 and 14, and include impaired school performance, mental deterioration, ataxia, seizures, and dementia.

In the adult form, symptoms, which begin after age 16, may include impaired concentration, depression, psychiatric disturbances, ataxia, tremor, and dementia. Seizures may occur in the adult form, but are less common than in the other forms.

flowerchildn · Credits: 7753 My Scrapbook

mld is my answer

BRAVO · Credits: 45704 My Scrapbook

ans given is ald

shraddha · Credits: 19590 My Scrapbook

"he soon develpos a spastic gait"
this points to a short clinicl history

it points more towards multiple sclerosis

decreases school perfermance also could be due to loss of vision " optic neuritis"

bhavu · Credits: 9481 My Scrapbook

spastic gait also occur in ald.check robbins page 1333 7th edi

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