Bonnemann-Meinecke-Reich syndrome
| 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.