Bonnemann-Meinecke-Reich syndrome

Bonnemann-Meinecke-Reich syndrome
ICD-10	G31.8
OMIM	225755

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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 having an autosomal recessive type of inheritance.

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. This syndrome has been described in only two families, with each family containing two affected siblings.

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

• Hepatic encephalopathy
• Mental retardation
• Vision loss

Diagnosis

Symptoms

• Confusion
• Loss of vision
• Incoordination
• Dysmorphism

Physical Examination

Appearance of the Patient

• Short stature
• Dysmorphism
• Craniosynostosis

Eye

• Impaired vision
• Retinal degeneration

Neurologic

• Muscle spasticity
• Motor incoordination

Laboratory Findings

Electrolyte and Biomarker Studies

• Growth hormone deficiency

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.