PatriciaLim
Forum Senior
Topics: 13
Posts: 54
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A 6 week old male is seen by his pediatrician because his mother has noticed a problem with his eyes. Upon examination, the physician finds that the child has bilateral cataracts. The child is also hypotonic and deep tendon reflexes are absent. Reduced activity (<10%) of the enzy,e phosphatidylinositol (4,5) bisphosphate 5- phosphatase is seen in cultured skin fibroblasts. What is the most propable diagnosis for this child?
A cynosis
B lowe syndrome
C Smith-Lemli-Opitz syndrome
D Wilson Disease
E Zellweger syndrome
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| drpkaur
Forum Guru
Topics: 195
Posts: 808
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It's B.Oculocerebrorenal Dystrophy (Lowe Syndrome)
Congenital cataracts a key symptomOculocerebrorenal dystrophy (OCRL), known as Lowe syndrome, is an inherited disorder linked to the X (female) chromosome. Most of the individuals affected by it, therefore, are male, since males have only one X chromosome. In order for a female to develop the syndrome, she would have to inherit the genetic defect on both of her X chromosomes. Thus, although OCRL can occur in females, it is a much less common occurrence.
Symptoms
There are three main symptoms which are present in all individuals with OCRL:
Cataracts in one or both eyes at birth .
Low muscle tone and weakness (hypotonia) Kidney dysfunction - the kidneys may functions normally at birth, but abnormal function is present often by 1 year old. In addition, individuals may have symptoms such as:
Mental retardation - About 10% of individuals with OCRL have IQs near low normal (70), about 33% have very low IQs, with most individuals having moderate low IQs (40-54). This does not change over time.
Seizures - occur in about 50% of individuals with OCRL, usually in young children with the syndrome Behavior problems
Undescended testicles in boys.
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| PatriciaLim
Forum Senior
Topics: 13
Posts: 54
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Well explained~!!
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| Cedrick
Forum Fanatic
Topics: 320
Posts: 1,928
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oh I found someone to study biochem with
excellent
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