Oculocerebrorenal syndrome: Difference between revisions

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{{EH}}
==Overview==
'''Oculocerebrorenal syndrome''' (also called '''Lowe syndrome''') is a [[X-linked]] recessive disorder characterized by [[hydrophthalmia]], [[cataract]]s, [[mental retardation]], [[aminoaciduria]], reduced renal [[ammonia]] production and vitamin D-resistant [[rickets]].
 
==Historical Perspective==
It is named for Charles Upton Lowe.<ref>{{WhoNamedIt|synd|3512}}</ref><ref>{{cite journal |author=Lowe CU, Terrey M, MacLachlan EA |title=Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity |journal=A.M.A. American journal of diseases of children |volume=83 |issue=2 |pages=164-84 |year=1952 |pmid=14884753 |doi=}}</ref>
 
==Pathophysiology==
*[[Mutation]] in the OCRL gene leads to membrane defects which results in inability of proximal tubular cells to reabsorb low molecular weight proteins, [[bicarbonates]] and [[phosphorus]].
*There is impaired intra-cellular protein folding and sorting, especially in polarized cells like renal epithelium and optic lens. This explains the pathogenesis of renal dysfunction and cataract.
===Genetics===
It is associated with the [[gene]] [[OCRL]]
 
==Differentiating Oculocerebrorenal syndrome from other diseases==
===Differential diagnosis===
*[[Cystinosis]]
*[[Fanconi's syndrome]]
*[[Hypophosphatemic rickets]]
 
==Epidemiology and Demographics==
*Oculocerebrorenal syndrome is a rare disease with a prevalence of about 1 in 200,000 to 1 in every 500,000 births.
===Sex===
*As the disease follows an [[X-linked]] inheritance pattern, almost all affected patients are males. However, a few females with this condition have been reported.


==Overview==
==Complications==
*[[Muscle tone]] improves with age, but never comes back to normal.
*[[Scoliosis]]
*[[Hernia]]s
*[[Osteopenia]]
*[[Osteoporosis]]
*[[Rickets]]
*[[Fracture]]s
*[[Metabolic acidosis]]
 
==Diagnosis==
===History===
*[[Mental retardation]]
*[[Seizures]]
*[[Febrile seizures]]
*Behavioral disturbances
**Temper tantrums
**Aggression
**unusual repetitive movements
**[[Irritability]]
**[[Rigidity]]
**Preoccupations and obsessions
*[[Constipation]]
 
===Physical Examination===
==== Appearance of the Patient ====
*Small eyes
*[[Frontal bossing]]
*[[Elongated face]]
 
====Skin====
*cysts
 
==== Eyes ====
*Decreased [[visual acuity]]
*[[Cataract]] at birth
*[[Glaucoma]] with or without [[buphthalmos]]
*[[Keloids]]s over [[conjunctiva]] and [[cornea]] without preceding trauma
*[[Strabismus]]
 
==== Extremities ====
*[[Joint swelling]]: small and large joints
*[[Arthritis]]
*[[Tenosynovitis]]
*Joint [[contractures]]


'''Oculocerebrorenal syndrome''' (also called '''Lowe syndrome''') is a [[X-linked]] recessive disorder characterized by [[hydrophthalmia]], [[cataract]]s, [[mental retardation]], [[aminoaciduria]], reduced renal [[ammonia]] production and vitamin D-resistant [[rickets]].
==== Neurologic ====
*Generalized neonatal [[hypotonia]]
*[[Areflexia]]
*Feeding difficulty
*Delayed motor development
*[[Delayed milestones]]


It is associated with the [[gene]] [[OCRL]].
==== Other ====
*[[Cryptorchidism]]
*Skin and mucosal cysts
*Delayed dentition
*Dental caries
*Gingival inflammation
*Dental cysts


==Eponym==
=== Laboratory Findings ===  
It is named for Charles Upton Lowe.<ref>{{WhoNamedIt|synd|3512}}</ref><ref>{{cite journal |author=Lowe CU, Terrey M, MacLachlan EA |title=Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity |journal=A.M.A. American journal of diseases of children |volume=83 |issue=2 |pages=164-84 |year=1952 |pmid=14884753 |doi=}}</ref>


==References==
==References==
<references/>
<references/>

Revision as of 20:17, 16 August 2012

Oculocerebrorenal syndrome
ICD-10 E72.0
ICD-9 270.8
OMIM 309000
DiseasesDB 29146
eMedicine oph/516 
MeSH D009800

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Overview

Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets.

Historical Perspective

It is named for Charles Upton Lowe.[1][2]

Pathophysiology

  • Mutation in the OCRL gene leads to membrane defects which results in inability of proximal tubular cells to reabsorb low molecular weight proteins, bicarbonates and phosphorus.
  • There is impaired intra-cellular protein folding and sorting, especially in polarized cells like renal epithelium and optic lens. This explains the pathogenesis of renal dysfunction and cataract.

Genetics

It is associated with the gene OCRL

Differentiating Oculocerebrorenal syndrome from other diseases

Differential diagnosis

Epidemiology and Demographics

  • Oculocerebrorenal syndrome is a rare disease with a prevalence of about 1 in 200,000 to 1 in every 500,000 births.

Sex

  • As the disease follows an X-linked inheritance pattern, almost all affected patients are males. However, a few females with this condition have been reported.

Complications

Diagnosis

History

Physical Examination

Appearance of the Patient

Skin

  • cysts

Eyes

Extremities

Neurologic

Other

  • Cryptorchidism
  • Skin and mucosal cysts
  • Delayed dentition
  • Dental caries
  • Gingival inflammation
  • Dental cysts

Laboratory Findings

References

  1. ↑ Template:WhoNamedIt
  2. ↑ Lowe CU, Terrey M, MacLachlan EA (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children. 83 (2): 164–84. PMID 14884753.

External Links

Template:Metabolic pathology Template:SIB de:Lowe-Syndrom fi:Lowen oireyhtymä


Template:WikiDoc Sources

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