Bonnemann-Meinecke-Reich syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Bonnemann-Meinecke-Reich syndrome is a rare syndrome having [[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> | Bonnemann-Meinecke-Reich syndrome is a rare syndrome having 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> | ||
==Differentiation of from other syndromes== | ==Differentiation of from other syndromes== | ||
| Line 21: | Line 21: | ||
==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=== | |||
It affects children less than 1 year of age. | |||
==Natural History, Complications and Prognosis== | ==Natural History, Complications and Prognosis== | ||
The onset of disease is in first year of life leading to | The onset of disease is in first year of life leading 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. | ||
Revision as of 14:29, 3 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 the brain tissue, deficiency of growth hormones and degeneration of the retina.
Pathophysiology
Genetics
Bonnemann-Meinecke-Reich syndrome is a rare syndrome having an autosomal recessive type of inheritance. [1]
Differentiation of from other syndromes
Bonnemann-Meinecke-Reich syndrome has certain features which are similar to Cockayne syndrome. The later has similar dysmorphism and mental retardation but has more of 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
It affects children less than 1 year of age.
Natural History, Complications and Prognosis
The onset of disease is in first year of life leading 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.