Bonnemann-Meinecke-Reich syndrome: Difference between revisions
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{{CMG}}; {{AE}} {{ADI}} | {{CMG}}; {{AE}} {{ADI}} | ||
{{SK}} Encephalopathy | {{SK}} Encephalopathy; intracerebral calcification; retinal degeneration | ||
==Overview== | ==Overview== | ||
Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in | Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in [[brain tissue]], a [[deficiency of growth hormones]], and [[degeneration of the retina]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Bonnemann-Meinecke-Reich syndrome is a rare syndrome | Bonnemann-Meinecke-Reich syndrome is a rare syndrome that has an [[autosomal recessive]] type of [[inheritance]]. <ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> | ||
== | ==Differentiating Bonnemann-Meinecke-Reich syndrome from other Syndromes== | ||
Bonnemann-Meinecke-Reich syndrome has certain features which are similar to [[Cockayne syndrome]]. | Bonnemann-Meinecke-Reich syndrome has certain features which are similar to [[Cockayne syndrome]]. Cockayne syndrome presents with similar characteristics as Bonnemann-Meinecke-Reich such as [[dysmorphism]] and [[mental retardation]], but it develops with more of a skeletal involvement. | ||
==Epidemiology and Demography== | ==Epidemiology and Demography== | ||
Prevalence of this disease is less than 1 per | Prevalence of this disease is less than 1 per 100,000.<ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> This syndrome has been described in only two families, with each family containing two affected siblings. <ref name="urlOrphanet: Bonnemann Meinecke Reich syndrome">{{cite web |url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1261 |title=Orphanet: Bonnemann Meinecke Reich syndrome |format= |work= |accessdate=}}</ref> | ||
===Age=== | |||
This syndrome affects children less than 1 year of age. | |||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
The onset of disease | The onset of disease occurs in first year of life and leads to [[hepatic impairment]] and [[mental retardation]]. | ||
===Complications=== | ===Complications=== | ||
* [[Hepatic encephalopathy]] | * [[Hepatic encephalopathy]] | ||
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==Treament== | ==Treament== | ||
* Treatment of [[encephalopathy]] with | * Treatment of [[encephalopathy]] with [[lactulose]] to decrease [[ammonia]] production. | ||
* Diet regulation for [[protein]] intake | * Diet regulation for [[protein]] intake. | ||
==References== | ==References== | ||
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{{WS}} | {{WS}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 15:54, 7 August 2012
| Bonnemann-Meinecke-Reich syndrome | |
| ICD-10 | G31.8 |
|---|---|
| OMIM | 225755 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aditya Govindavarjhulla, M.B.B.S. [2]
Synonyms and keywords: Encephalopathy; intracerebral calcification; retinal degeneration
Overview
Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in brain tissue, a deficiency of growth hormones, and degeneration of the retina.
Pathophysiology
Genetics
Bonnemann-Meinecke-Reich syndrome is a rare syndrome that has an autosomal recessive type of inheritance. [1]
Differentiating Bonnemann-Meinecke-Reich syndrome from other Syndromes
Bonnemann-Meinecke-Reich syndrome has certain features which are similar to Cockayne syndrome. Cockayne syndrome presents with similar characteristics as Bonnemann-Meinecke-Reich such as dysmorphism and mental retardation, but it develops with more of a skeletal involvement.
Epidemiology and Demography
Prevalence of this disease is less than 1 per 100,000.[1] This syndrome has been described in only two families, with each family containing two affected siblings. [2]
Age
This syndrome affects children less than 1 year of age.
Natural History, Complications and Prognosis
The onset of disease occurs in first year of life and leads to hepatic impairment and mental retardation.
Complications
Diagnosis
Symptoms
Physical Examination
Appearance of the Patient
Eye
Neurologic
Laboratory Findings
Electrolyte and Biomarker Studies
CT
- Cerebral images show calcification of the lenticular nuclei
- Ventriculomegaly
Treament
- Treatment of encephalopathy with lactulose to decrease ammonia production.
- Diet regulation for protein intake.