Oculocerebrorenal syndrome: Difference between revisions
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*[[Mental retardation]] | *[[Mental retardation]] | ||
*[[Seizures]] | *[[Seizures]] | ||
*[[Febrile | *[[Febrile seizure]]s | ||
*Behavioral disturbances | *Behavioral disturbances | ||
**Temper tantrums | **Temper tantrums | ||
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====Skin==== | ====Skin==== | ||
* | *[[Cyst]]s | ||
==== Eyes ==== | ==== Eyes ==== | ||
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*Dental cysts | *Dental cysts | ||
=== Laboratory Findings === | ===Laboratory Findings=== | ||
====Urinalysis==== | |||
*Low [[osmolarity]] | |||
*[[Albuminuria]] | |||
*Low molecular weight [[proteiuria]]: [[retinol binding protein]], [[β2 microglobulin]] | |||
*[[Bicarbonate]] loss | |||
*[[Aminoaciduria]] | |||
*[[Hypercalciuria]] | |||
*[[Hyperphosphaturia]] | |||
*Decreased [[creatinine clearance]] | |||
*L-carnitine lost in urine | |||
====Blood Tests==== | |||
*Raised [[ESR]] | |||
*High [[alkaline phosphatase]] | |||
*Blood gases: | |||
**Low [[bicarbonate]] levels | |||
**Compensatory decrease in PCO2 levels | |||
*Raised [[serum creatinine]] levels | |||
*Serum markers: Rise in | |||
**[[AST]] | |||
**[[LDH]] | |||
**[[Creatinine kinase]] | |||
*[[Acid phosphatase]] | |||
*[[T4]], [[TSH]] levels increased | |||
====Other tests==== | |||
*Measurement of enzyme activity in cultured [[fibroblasts]] is the preferred test for establishing diagnosis. | |||
===X ray=== | |||
*[[Osteopenia]] | |||
*Metaphyseal [[flarring]] and [[cupping]] | |||
===MRI=== | |||
*[[Demyelination]] of [[white matter]] in the [[periventricular area]] | |||
===Ultrasonography=== | |||
*[[Nephrocalcinosis]] | |||
*[[Nephrolithiasis]] | |||
Revision as of 20:54, 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 mutation in 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
- Muscle tone improves with age, but never comes back to normal.
- Scoliosis
- Hernias
- Osteopenia
- Osteoporosis
- Rickets
- Fractures
- 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
Eyes
- Decreased visual acuity
- Cataract at birth
- Glaucoma with or without buphthalmos
- Keloidss over conjunctiva and cornea without preceding trauma
- Strabismus
Extremities
- Joint swelling: small and large joints
- Arthritis
- Tenosynovitis
- Joint contractures
Neurologic
- Generalized neonatal hypotonia
- Areflexia
- Feeding difficulty
- Delayed motor development
- Delayed milestones
Other
- Cryptorchidism
- Skin and mucosal cysts
- Delayed dentition
- Dental caries
- Gingival inflammation
- Dental cysts
Laboratory Findings
Urinalysis
- Low osmolarity
- Albuminuria
- Low molecular weight proteiuria: retinol binding protein, β2 microglobulin
- Bicarbonate loss
- Aminoaciduria
- Hypercalciuria
- Hyperphosphaturia
- Decreased creatinine clearance
- L-carnitine lost in urine
Blood Tests
- Raised ESR
- High alkaline phosphatase
- Blood gases:
- Low bicarbonate levels
- Compensatory decrease in PCO2 levels
- Raised serum creatinine levels
- Serum markers: Rise in
- Acid phosphatase
- T4, TSH levels increased
Other tests
- Measurement of enzyme activity in cultured fibroblasts is the preferred test for establishing diagnosis.
X ray
- Osteopenia
- Metaphyseal flarring and cupping
MRI
- Demyelination of white matter in the periventricular area
Ultrasonography
References
- ↑ Template:WhoNamedIt
- ↑ 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