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].

• Short Stature

  Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [rarediseases.oscar.ncsu.edu]

  Diseases related with Muscle weakness and Severe short stature In the following list you will find some of the most common rare diseases related to Muscle weakness and Severe short stature that can help you solving undiagnosed cases. [mendelian.co]

  Symptoms * Impaired vision * Dwarfism * Short stature * Impaired motor development * Mental retardation * Spasticity * Incoordination * Retinal degeneration * Impaired vision * Dwarfism * Short stature * Impaired motor development * Mental retardation [checkorphan.org]

  Due to the deficiency in growth hormone, dwarfism or short stature are often observed. [symptoma.com]

  Severe short stature MedGen UID: 3931 •Concept ID: C0013336 • Congenital Abnormality A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [ncbi.nlm.nih.gov]

• Developmental Disorder

  ORPHA:2232 Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders Hernia, Hypoalbuminemia, Flexion contracture ORPHA:505248 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency Decreased [mousephenotype.org]

• Severe Short Stature

  Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [rarediseases.oscar.ncsu.edu]

  Severe short stature MedGen UID: 3931 •Concept ID: C0013336 • Congenital Abnormality A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [ncbi.nlm.nih.gov]

  Diseases related with Muscle weakness and Severe short stature In the following list you will find some of the most common rare diseases related to Muscle weakness and Severe short stature that can help you solving undiagnosed cases. [mendelian.co]

  Patients exhibit severe short stature and scoliosis with thoracic kyphosis and lumbar hyperlordosis. Severe joint laxity results in dislocations of elbows, hips, and knees. [0-www-ncbi-nlm-nih-gov.linyanti.ub.bw]

• Muscle Spasticity

  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. [symptoma.com]

  Spastic ataxia Spasticity Muscle spasticity, Muscular spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. [rarediseases.oscar.ncsu.edu]

  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 [wikidoc.org]

• Visual Impairment

  impairment Cerebral visual impairment Hypsarrhythmia Hypertonia Absent speech Malar flattening Long philtrum Anteverted nares Hyperreflexia High palate Ventriculomegaly Cerebral cortical atrophy Muscular hypotonia of the trunk Myoclonus Strabismus Depressed [mendelian.co]

  By adolescence, all individuals with MLIV have severe visual impairment. [0-www-ncbi-nlm-nih-gov.linyanti.ub.bw]

• Visual Impairment

  impairment Cerebral visual impairment Hypsarrhythmia Hypertonia Absent speech Malar flattening Long philtrum Anteverted nares Hyperreflexia High palate Ventriculomegaly Cerebral cortical atrophy Muscular hypotonia of the trunk Myoclonus Strabismus Depressed [mendelian.co]

  By adolescence, all individuals with MLIV have severe visual impairment. [0-www-ncbi-nlm-nih-gov.linyanti.ub.bw]

• Aggressive Behavior

  […] seizures Mild microcephaly Dysphasia Absent septum pellucidum Epileptic spasms Global brain atrophy Deeply set eye Narrow palpebral fissure Small hand Polyphagia Obesity Generalized-onset seizure Generalized myoclonic seizures Wide mouth Short foot Aggressive [mendelian.co]

• Broad Nasal Bridge

  Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011 ). [mendelian.co]

• Encephalopathy

  MalaCards integrated aliases for Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration: Name: Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal [malacards.org]

  BMRS represents a group of congenital encephalopathies that are characterized by calcifications within the brain. They originate from diverse genetic mutations. [symptoma.com]

  Heritability: Autosomal recessive inheritance AKA: encephalopathy-intracerebral calcification-retinal degeneration syndrome, encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration, Bonnemann Meinecke Reich [monarchinitiative.org]

  Syndrome ⌊ Necrotizing Encephalopathy, Infantile Subacute ⌊ Encephalopathy-Basal Ganglia-Calcification ⌊ Pontoneocerebellar Hypoplasia ⌊ Encephalopathy Intracerebral Calcification Retinal ⌊ Cerebral Autosomal Dominant Arteriopathy ... ⌊ Cerebral Disorders [wellnessadvocate.com]

  Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. [rarediseases.oscar.ncsu.edu]

• Cerebral Calcification

  Autosomal recessive hereditary disorder Cerebral calcification (disorder) Degeneration of retina Hereditary disorder of nervous system Hereditary disorder of the visual system Intellectual disability Multiple system malformation syndrome (disorder) Name [snomedbrowser.com]

  Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuropathological studies--a separate neurodevelopmental entity. [ncbi.nlm.nih.gov]

  Code System Concept Code System Concept Code 733049004 Code System Concept Name Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Code System Preferred Concept Name Encephalopathy, intracerebral calcification, retinal [phinvads.cdc.gov]

  calcification cerebellar hypoplasia Cerebral calcifications opalescent teeth phosphaturia Cerebral gigantism jaw cysts Cerebral malformations hypertrichosis claw hands Cerebral ventricle neoplasm Cerebro facio thoracic dysplasia -AKA: Pascual-Castroviejo [en.wikipedia.org]

  To enhance our understanding of the association between genotype and phenotype, we investigated a patient with mitochondrial encephalomyopathy and severe cerebral calcifications for a mtDNA mutation. [n.neurology.org]

• Confusion

  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]

  FAHR DISEASE There is much confusion surrounding the use of Fahr disease (Fig. 3d) as a diagnostic term. [docksci.com]

• Akinesia

  […] sequence Severe failure to thrive Progressive encephalopathy Abnormality of visual evoked potentials Progressive spasticity Decreased liver function Spastic diplegia Akinesia Encephalitis Slurred speech Inspiratory stridor Intellectual disability, progressive [mendelian.co]

  […] agammaglobulinemia, age-related, agenesia, agenesis, agent, agglutinin, aggravated, aggregates, aggressive, aglossia, agm2, agnathia, agnogenic, agonadism, ahds, ahmad, ahn-lerman-sagie, aicardi, aicardi-goutieres, aids, aird, aires, airway, akaba, akinesia [rapsodyonline.eurordis.org]

• Delayed Speech and Language Development

  […] fissure Cerebellar atrophy Developmental regression Focal-onset seizure Cerebellar hypoplasia Optic atrophy Hypermetropia Brain atrophy Clinodactyly Abnormality of the eye Retrognathia Scoliosis Flexion contracture Delayed speech and language development [mendelian.co]

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:

• The measurement of growth hormone (GH) levels.
• Evaluation of the functioning of the thyroid, parathyroid, and adrenal glands.
• Metabolic panel, with measurement of ion levels of calcium and phosphorus.
• TORCH (toxoplasmosis, other (syphilis, varicella-zoster, parvovirus B19), rubella, cytomegalovirus, and herpes infections) screen.
• Cerebrospinal fluid (CSF) analysis, which may be normal.

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.

Treatment CentersEdit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.fandom.com]

Gillian’s new gene-therapy treatment at NIH stemmed from research begun in 2008 by Dr. Steven Gray of the University of North Carolina, Chapel Hill. Dr. [childrensinn.org]

Treatment Effective treatment stops the progression of encephalopathy by reducing blood ammonia levels. [checkorphan.org]

[…] 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]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Prognosis - Bonneman Meinecke Reich syndrome Not supplied. Treatment - Bonneman Meinecke Reich syndrome Resources - Bonneman Meinecke Reich syndrome [checkorphan.org]

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]

PMID: 35624059 Prognosis Dai L, Xu JJ, Zhou WJ, Lü AP, Ji G J Integr Med 2022 Nov;20(6):524-533. Epub 2022 Aug 13 doi: 10.1016/j.joim.2022.08.002. [ncbi.nlm.nih.gov]

PMID: 31357484Free PMC Article Prognosis Xiao X, Ye L, Chen C, Zheng H, Yuan J Curr Gene Ther 2022;22(4):342-351. doi: 10.2174/1566523222666220216101539. [0-www-ncbi-nlm-nih-gov.linyanti.ub.bw]

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

Abnormality of the musculoskeletal system Craniosynostosis syndrome Abnormality of the nervous system Cerebellar ataxia Cerebral calcification Encephalopathy Intellectual disability, mild Spasticity Ventriculomegaly Growth abnormality Severe short stature Etiology [ncbi.nlm.nih.gov]

Etiology Exp Eye Res 2022 Feb;215:108893. Epub 2021 Dec 14 doi: 10.1016/j.exer.2021.108893. PMID: 34919893 Zeng L, Li X, Liu J, Liu H, Xu H, Yang Z Int J Mol Sci 2021 Nov 22;22(22) doi: 10.3390/ijms222212598. [0-www-ncbi-nlm-nih-gov.linyanti.ub.bw]

Calcification Growth Hormone Deficiency Microcephaly Retinal Degeneration 52 Encephalopathy-Intracerebral Calcification-Retinal Degeneration Syndrome 58 Bonnemann Meinecke Reich Syndrome 52 Bonnemann-Meinecke-Reich Syndrome 58 Characteristics: Orphanet epidemiological [malacards.org]

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]

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]

The pathophysiology of this proviso is closely linked with the regulation of insulin freedom 50 mg viagra professional visa. [chesapeakehumane.org]

Cirrhosis further compounds this problem because impaired hepatocellular function prevents conversion of ammonia that reaches the liver. [checkorphan.org]

Since 2007, O.N.Da has awarded the Bollini Rosa to Italian hospitals that offer services related to the prevention, diagnosis and treatment of major female diseases, placing women at the center of attention. [ihy-ihealthyou.com]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

Another technique that prevents blood-borne IL-2 from accumulating in the CNS is a tough enzymatic obstacle. [blkhospital.com]

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.