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Laurence Moon Syndrome

Laurence-Moon-Biedl Syndrome

Laurence Moon syndrome is a rare genetic disease of a multisystemic nature that features hypopituitarism, obesity, mental retardation, ataxia, and retinal dystrophy. It is categorized under the wider spectrum of PNPLA6-related disorders and inherited via the autosomal recessive inheritance pattern. Definite diagnosis is possible only via genetic testing.


Presentation

Laurence Moon syndrome (LMS) was first described in 1866, as a disorder that leads to obesity, mental retardation, and retinal dystrophy, accompanied by hypoplastic genitalia and gait disturbance [1]. Although historically connected to Bardet-Biedl syndrome, which is also a PNPLA6-related disorder, patients affected with LMS do not display the characteristic of polydactyly and the two disorders are presently considered as distinct; LMS patients are known, however, to exhibit variable disorder patterns, with one or more manifestations missing, even in the same family [2] [3] [4].

In the majority of the presently known Laurence-Moon syndrome cases, the disease has a childhood onset, characterized by cerebellar ataxia, spastic paraplegia, peripheral neuropathy, and chorioretinopathy [5]. Hypopituitarism frequently coexists, leading to hypogonadism and obesity. In one specific case, patients of the same family were described to exhibit retinopathy, subaverage intellectual ability, first metacarpal hypoplasia, abnormal development of genitalia, and short stature [6]. A synopsis of the LMS-related manifestations includes:

  • Obesity
  • Spastic paraplegia resulting in gait abnormality
  • Cerebellar ataxia
Short Stature
  • Serum laboratory analysis is directed towards the detection of hypopituitarism in infants or children with evident clinical indications, such as short stature and hypoplastic genitalia.[symptoma.com]
  • Their report described four out of eight siblings with retinitis pigmentosa, lack of intelligence, short stature for their age and hypogenitalism in the males.[whonamedit.com]
  • Lau·rence-Moon syndrome \ ˈlȯr-ən(t)s-ˈmün- \ : a genetic disorder that is a ciliopathy characterized especially by obesity, ataxia, learning disabilities, kidney abnormalities, short stature, subnormal development of the genital organs, retinitis pigmentosa[merriam-webster.com]
Sparse Hair
  • J P Fryns, J Delooz and H Van Den Berghe, Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation., Journal of Medical Genetics, 10.1136/jmg.29.9.676, 29, 9, (676-677), (1992). A.[doi.org]
Esotropia
Progressive Loss of Vision
  • We here present a case report of 18 year old male patient presenting in medicine department with weakness of both lower limbs, inability to walk, progressive loss of vision and polydactyly.[ijmedph.org]
Skeletal Dysplasia
  • dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome Neurocutaneous syndrome Nodular embryo Noonan syndrome Noonan's syndrome Oculo-cerebro-cutaneous syndrome Oculodentodigital syndrome Oculodento-osseous dysplasia[icd9data.com]
Spastic Paraplegia
  • From Wikidata Jump to navigation Jump to search rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities Laurence-Moon-Biedl syndrome LAURENCE-MOON SYNDROME LNMS LAURENCE-MOON SYNDROME[wikidata.org]
  • In the majority of the presently known Laurence-Moon syndrome cases, the disease has a childhood onset, characterized by cerebellar ataxia, spastic paraplegia, peripheral neuropathy, and chorioretinopathy.[symptoma.com]
  • Homepage Rare diseases Search Search for a rare disease Laurence-Moon syndrome Disease definition A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy[orpha.net]
  • Moon, American ophthalmologist, 1844-1914 an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia.[medical-dictionary.thefreedictionary.com]
Spastic Paraplegia
  • From Wikidata Jump to navigation Jump to search rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities Laurence-Moon-Biedl syndrome LAURENCE-MOON SYNDROME LNMS LAURENCE-MOON SYNDROME[wikidata.org]
  • In the majority of the presently known Laurence-Moon syndrome cases, the disease has a childhood onset, characterized by cerebellar ataxia, spastic paraplegia, peripheral neuropathy, and chorioretinopathy.[symptoma.com]
  • Homepage Rare diseases Search Search for a rare disease Laurence-Moon syndrome Disease definition A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy[orpha.net]
  • Moon, American ophthalmologist, 1844-1914 an autosomal recessive disorder characterized by mental retardation, pigmentary retinopathy, hypogonadism, and spastic paraplegia.[medical-dictionary.thefreedictionary.com]
Poor Coordination
  • Ataxia, poor coordination, imbalance 6. Mild spasticity (especially lower limbs) 7. Diabetes mellitus 8. Dental crowding, hypodontia, small roots, high arched palate 9. Congenital heart disease 10.[en.wikipedia.org]
  • Secondary features are Speech disorder, Brachydactyly, Developmental delay, Polyuria/ polydipsia, Ataxia, Poor coordination/clumsiness, Diabetes mellitus, Left ventricular hypertrophy, Hepatic fibrosis and Spasticity. 4 of primary or 3 of primary and[medresearch.in]

Workup

Laurence Moon syndrome is an inherited disorder classified under the PNPLA6-related disorders. An accurate diagnosis is achieved through genetic testing, accompanied by an evaluation of the clinical signs and symptoms, as well as laboratory tests and imaging studies [5]. Blood tests and imaging do not contribute to the diagnosis of LMS per se but help to evaluate and pinpoint manifestations.

Also, the clinical picture does not suffice to diagnose Laurence Moon syndrome. However, it does suggest which individuals should undergo further evaluation. Patients who present with difficulty in movement coordination, dizziness, speech problems, visual impairment, peripheral neuropathy, lower limb spasticity, and hypopituitarism are likely candidates for LMS.

Serum laboratory analysis is directed towards the detection of hypopituitarism in infants or children with evident clinical indications, such as short stature and hypoplastic genitalia. Low concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) are found in the majority of LMS patients [6]. Some patients will additionally undergo a magnetic resonance imaging (MRI) brain scan which could illustrate an underdeveloped pituitary [3].

The definitive LMS diagnosis is rendered possible when genetic testing reveals biallelic PNPLA6 pathogenic variants. This can be achieved via sequence analysis of the PNPLA6 gene, completed with a deletion/duplication analysis if necessary, or via a multi-gene sequencing panel [3].

Treatment

  • […] yes no Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions.[patient.info]
  • 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]
  • Treatments for the Two Conditions Treatment of BBS is focused on treating the symptoms of the disorder, such as vision correction or kidney transplants.[verywell.com]
  • Extra care is recommended in orthodontic treatment of patients with short tooth roots. Snoring problems should be investigated by a physician in cases of suspected sleep apnea (frequent breathing pauses during sleep).[mun-h-center.se]

Prognosis

  • Prognosis Life expectancy is lower than that of the general population. Renal disease is a common primary or contributing cause of death. Historical aspects John Zachariah Laurence (1829-1870) was a British ophthalmologist.[patient.info]
  • Prognosis For those with Laurence-Moon syndrome, life expectancy is usually shorter than other people. The most common cause of death is linked to renal or kidney issues.[verywell.com]
  • Other features like deafness, short stature, congenital heart block, and neurological disorders are also seen.It has got poor prognosis.[medresearch.in]
  • What is the prognosis for a person with Bardet-Biedl Syndrome, BBS10-related? Kidney disease is a major cause of early death for people with Bardet-Biedl syndrome.[counsyl.com]

Etiology

  • Reports from the MHC data base Report from the Questionnaire (PDF) Report from the Observation Chart (PDF) Synonyms Bardet-Biedl syndrome Laurence-Moon syndrome LMBBS Codes ICD-10: Q87.8 ORPHA: 110 Estimated occurrence 5–100: 100 000 inhabitants Etiology[mun-h-center.se]
  • Catalina Betancur, Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting, Brain Research, 10.1016/j.brainres.2010.11.078, 1380, (42-77), (2011).[doi.org]
  • The etiology is still unknown, but it is described in the literature as 35% to 48% of parental consanguinity in patients with this syndrome.[dentalnews.com]

Epidemiology

  • For example, a 1999 epidemiological study of BBS and LMS reported that "BBS proteins interact and are necessary for the development of many organs." "Two patients [in the study] were diagnosed clinically as LMS but both had mutations in a BBS gene.[en.wikipedia.org]
  • Parfrey, Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study, American Journal of Medical Genetics Part A, 132A, 4, (352), (2005). John J. Bissler and Bradley P.[doi.org]
  • University Research Professor, Clinical Epidemiology Unit, Health Sciences Centre, Memorial University, St John's, Newfoundland, Canada A1B 3V6.[doi.org]
  • Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al.[rarediseases.org]
  • The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: clinical, genetic and epidemiologic studies. J. neurol. Sci. 9 , 479–513 (1969). 13 Bell, J. The Laurence-Moon syndrome. in The Treasury of Human Inheritance 5 , III (ed.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al.[rarediseases.org]
  • Extensive future genotyping studies may reveal genotype-phenotype correlations, allowing early diagnosis and better understanding of the pathophysiology of associated cardiovascular abnormalities.[cjasn.asnjournals.org]

Prevention

  • There is no treatment and attempts should be made, by GENETIC COUNSELLING, to prevent further transmission of the gene. (John Zacharias Laurence, 1830–1874, English physician; Richard C.[medical-dictionary.thefreedictionary.com]
  • Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive[jamanetwork.com]
  • Bardet-Biedl Syndrome Prevention There is no prevention for BBS as such. However, genetic counseling and preconception genotyping of family members can be effective in averting this disease.[primehealthchannel.com]
  • To help prevent blindness, doctors both treat the retinitis and work to strengthen your immune system. You may need an antiviral medication such as ganciclovir. You might take pills by mouth or receive an injection into a vein or eye.[webmd.com]
  • Surgery to remove extra digits prevents difficulties walking and balancing and poor fitting of footwear.[contact.org.uk]

References

Article

  1. Laurence JZ, Moon RC. Four cases of retinitis pigmentosa occurring in the same family, and accompanied by general imperfections of development. Ophthalmol Rev. 1866;2:32–41.
  2. Biedl A. Ein Geschwister mit adiposogenitaler Dystrophie. Dtsch Med Wochenschr. 1922;48:1630.
  3. Hufnagel, R. B., Arno, G., Hein, et al. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J. Med. Genet.2015; 52:85-94.
  4. Schachat AP, Maumenee IH. Bardet–Biedl syndrome and related disorders. Arch Ophthalmol.1982;100:285–288.
  5. Synofzik M, Hufnagel RB, Züchner S. PNPLA6-Related Disorders. GeneReviews.2014.
  6. Chalvon-Demersay A., Tardieu M., Crosnier H. Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance. Arch Franc. Pediat.1993;50: 859-862.

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Last updated: 2019-06-28 10:45