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Bonnemann-Meinecke-Reich Syndrome


Bonnemann-Meinecke-Reich syndrome (BMRS), also known as encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration, is a rare congenital disease that is characterized by brain, eye and growth abnormalities. Its pattern of inheritance may be autosomal recessive. The symptoms, such as developmental delay, usually appear within the first year of life. There are very few known cases of BMRS, reported in only two families to date. These cases were recorded in 1989 and 1991.


Bonnemann-Meinecke-Reich syndrome (BMRS) is a congenital illness that is inherited and thought to follow an autosomal recessive pattern. It is extremely rare and has only been reported in a few families, affecting siblings [1]. The pathological process, as well as the appearance of symptoms, begin within the first year of life. BMRS represents a group of congenital encephalopathies that are characterized by calcifications within the brain. They originate from diverse genetic mutations [2].

The main features of BMRS that give rise to the clinical presentation are encephalopathy due to calcification of parts of the brain, typically the basal ganglia and cerebrum, as well as ventricular dilation [3]. Overall, presentation between patients varies. Individuals showcase a delay in psychomotor ability, below average intellectual capability, and mental retardation. Other manifestations are ataxia and muscle spasticity. Affected children also exhibit various dysmorphic features such as microcephaly, as well as craniosynostosis, which is the premature fusion of sutures leading to abnormal skull shape [4]. Furthermore, they have difficulties with vision because of retinal degeneration.

Due to the deficiency in growth hormone, dwarfism or short stature are often observed. In addition, there may be hypoplasia of certain organs, namely the adrenal glands and uterus, as well as dysfunction of endocrine glands, including the pituitary and thyroid glands, leading to hormonal derangements [5].

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  • 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[wikidoc.org]


History taking and physical examination are initially conducted. Subsequently, numerous laboratory and imaging studies can be carried out as dictated by the patient's presenting symptoms. Laboratory tests may include:

Imaging studies [6]:

  • Electroencephalography (EEG): individuals with Bonnemann-Meinecke-Reich syndrome may exhibit abnormal wave patterns [3].
  • Skull X-ray: may show calcifications.
  • Computerized tomography (CT) scanning: calcifications and dilated ventricles may be seen.
  • Magnetic resonance imaging (MRI): this may reveal calcifications and brain atrophy in regions exemplified by the brainstem and cerebellum, as well as features suggestive of leukodystrophy.
  • Fundoscopy: this may reveal retinal pigmentation.


  • […] calculators and risk factors for Bonnemann-Meinecke-Reich syndrome Healthcare Provider Resources Symptoms of Bonnemann-Meinecke-Reich syndrome Causes & Risk Factors for Bonnemann-Meinecke-Reich syndrome Diagnostic studies for Bonnemann-Meinecke-Reich syndrome Treatment[wikidoc.org]
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  • Peripheral Retinal Degeneration Types The Peripheral Retinal Degeneration is of following types: Lattice Degeneration Pigmentray Anomalies Cystic degeneration Treatment of Peripheral Retinal Degeneration Peripheral Retinal Degeneration is treated by Ophthalmology[altiusdirectory.com]


  • Natural History, Complications and Prognosis The onset of disease occurs in first year of life and leads to hepatic impairment and mental retardation.[wikidoc.org]
  • Prognosis - Bonneman Meinecke Reich syndrome Not supplied. Treatment - Bonneman Meinecke Reich syndrome Resources - Bonneman Meinecke Reich syndrome[checkorphan.org]


  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]


  • 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 This syndrome affects children less than 1 year of[wikidoc.org]
  • Calcification Growth Hormone Deficiency Microcephaly Retinal Degeneration 53 Encephalopathy-Intracerebral Calcification-Retinal Degeneration Syndrome 59 Bonnemann Meinecke Reich Syndrome 53 Bonnemann-Meinecke-Reich Syndrome 59 Characteristics: Orphanet epidemiological[malacards.org]
Sex distribution
Age distribution


  • Pathophysiology Genetics Bonnemann-Meinecke-Reich syndrome is a rare syndrome that has an autosomal recessive type of inheritance. [1] Differentiating Bonnemann-Meinecke-Reich syndrome from other Syndromes Bonnemann-Meinecke-Reich syndrome has certain[wikidoc.org]


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  1. Billard C, Dulac O, Bouloche J, et al. Encephalopathy with calcifications of the basal ganglia in children: a reappraisal of Fahr's syndrome with respect to 14 new cases. Neuropediatrics. 1989;20(1):12-19.
  2. Kendall B, Cavanagh N. Intracranial calcification in paediatric computed tomography. Neuroradiology. 1986;28(4):324-30.
  3. Bönnemann CG, Meinecke P, Reich H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. J Med Genet. 1991;28(10):708–711.
  4. National Institutes of Health. Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration. Accessed March 14, 2018.
  5. Orphanet. Bonnemann-Meinecke-Reich syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1261. Accessed March 14, 2018.
  6. Online Mendelian Inheritance in Man. Encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration. Online Mendelian Inheritance in Man. https://www.omim.org/entry/225755. Updated March 5, 2002. Accessed March 14, 2018.

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Last updated: 2019-07-11 20:03