Question:

All of the following are associated with OCRL except?
1. Behavioral problems and obsessive-compulsive disorder.
2. Renal tubular acidosis.
3. Congenital cataracts and glaucoma.
4. Hyperthyroidism.
5. Rickets.





Answer:

The correct answer for the question "All of the following are associated with OCRL except?" is:

4. Hyperthyroidism.



Explanation
1. Behavioral problems and obsessive-compulsive disorder often occur in adolescence. [Behavioral problems and obsessive-compulsive disorder occurring during adolescence are often difficult to treat, requiring extensive psychologic counseling and psychiatric involvement].

2. Renal tubular acidosis is often asymptomatic at birth but presents within the first year of life. [Renal tubular acidosis must be recognized early and treated promptly with alkali supplements including sodium and/or potassium citrate and sodium bicarbonate in variable doses and combinations].

3. Congenital cataracts and glaucoma are present in OCRL [Cataracts are present at birth in all patients and glaucoma is detected within the first year of life].

4. Hyperthyroidism is not associated with OCRL.

5. Rickets is associated with OCRL. [Osteopenia and pathological fractures can be prevented through treatment of rickets with oral phosphate supplements and vitamin D].



From the manuscript:
Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe
Radiology Case. 2014 Oct; 8(10):1-7


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From the manuscript

Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

Free full text article: Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe

Abstract
Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, hypotonia, and cognitive developmental delay with renal complications developing in the first few months of life. Clinical and laboratory findings of Lowe syndrome are well documented. Though a small number of case reports describe the neuroimaging features and the renal ultrasound manifestations of this disease, a comprehensive review of all the imaging manifestations has not been reported. The authors present a case of OCRL and review the neuroimaging and renal ultrasound manifestations of this multisystem disease.






References



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