0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Article |

Picture of the Month

Sydney S. Gellis, MD; Murray Feingold, MD; Florindo Mollica, MD; Lorenzo Pavone, MD
Am J Dis Child. 1972;124(6):891-892. doi:10.1001/archpedi.1972.02110180093013.
Text Size: A A A
Published online

Denouement and Discussion 

Oculocerebrorenal Syndrome (Lowe syndrome) 

Manifestations  Major manifestations include cataracts, glaucoma, hypotonia, mental and growth retardation, generalized hyperaminoaciduria, and proteinuria.Cataracts are present at birth. Other eye findings include buphthalmos, corneal scarring, superficial granulations, and nystagmus. Frontal bossing is frequently present and the lips may be prominent. Neurological manifestations consist of hypotonia, absent or decreased deep tendon reflexes, hyperactivity, seizures, and severe mental retardation. A high-pitched cry is commonly present and cryptorchidism is frequently noted.Renal tubular dysfunction causes a generalized hyperaminoaciduria, proteinuria, renal tubular acidosis with impaired bicarbonate conservation, phosphaturia, hypophosphatemia, elevated alkaline phosphatase, decreased carbon dioxide, hematuria, pyuria, and granular casts. Generalized bony demineralization occurs resulting in the classical findings of rickets.

Genetics  The syndrome is most likely inherited in an X-linked fashion. There are some reports of the female carriers having fine lenticular opacities by slit-lamp examination.

Treatment  The cataracts and glaucoma should be treated

Topics

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

First Page Preview

View Large
First page PDF preview

First Page Preview

View Large
First page PDF preview

Figures

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign in

Create a free personal account to sign up for alerts, share articles, and more.

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

Customize your page view by dragging & repositioning the boxes below.

Jobs
brightcove.createExperiences();