Bonnemann-Meinecke-Reich syndrome: Difference between revisions
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====Neurologic==== | ====Neurologic==== | ||
* Muscle spasticity | * [[Muscle spasticity]] | ||
* Motor incoordination | * [[Motor incoordination]] | ||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
====Electrolyte and Biomarker Studies==== | ====Electrolyte and Biomarker Studies==== | ||
* Growth hormone deficiency | * [[Growth hormone deficiency]] | ||
====CT==== | ====CT==== | ||
* Cerebral images show calcification of the lenticular nuclei | * Cerebral images show [[calcification]] of the [[lenticular nuclei]] | ||
* Ventriculomegaly | * [[Ventriculomegaly]] | ||
==Treament== | ==Treament== | ||
* Treatment of [[encephalopathy]] with l[[actulose]] to [[ammonia]] production | * Treatment of [[encephalopathy]] with l[[actulose]] to [[ammonia]] production | ||
Revision as of 14:05, 3 August 2012
| Bonnemann-Meinecke-Reich syndrome | |
| ICD-10 | G31.8 |
|---|---|
| OMIM | 225755 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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 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 million.[1] This syndrome has been described in only two families, with each family containing two affected sibs. [2]
Natural History, Complications and Prognosis
The onset of disease is in first year of life leading to mild hepatic impairment and metal 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 ammonia production
- Diet regulation for protein intake