Bonnemann-Meinecke-Reich syndrome

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

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.

Bonnemann-Meinecke-Reich syndrome is a rare syndrome that has an autosomal recessive type of inheritance. ^[1]

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.

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]

This syndrome affects children less than 1 year of age.

The onset of disease occurs in first year of life and leads to hepatic impairment and mental retardation.

• Hepatic encephalopathy
• Mental retardation
• Vision loss

• Confusion
• Loss of vision
• Incoordination
• Dysmorphism

• Short stature
• Dysmorphism
• Craniosynostosis

• Impaired vision
• Retinal degeneration

• Muscle spasticity
• Motor incoordination

• Growth hormone deficiency

• Cerebral images show calcification of the lenticular nuclei
• Ventriculomegaly

• Treatment of encephalopathy with lactulose to decrease ammonia production.
• Diet regulation for protein intake.

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