L1CAM syndrome
| Classification according to ICD-10 | |
|---|---|
| Q04.8 | Other specified congenital malformations of the brain |
| ICD-10 online (WHO version 2019) | |
The L1CAM syndrome or L1 syndrome is a rare X-linked inherited disease with a combination of adducted thumbs, spasticity and variable changes in the brain.
Synonyms are:
- MASA syndrome
- CRASH Syndrome Acronym for Corpus Callosum Hypoplasia , (Mental) Retardation , Adducted Thumb, Spastic Paraplegia and Hydrocephalus
- Gareis-Mason Syndrome
distribution
The frequency is not known, is given as less than 1 in 1,000,000, inheritance is x-linked - recessive .
root cause
The disease is based on mutations in the L1CAM gene at location Xq28, which codes for the neural cell adhesion molecule .
Clinical manifestations
The genetic defect can manifest itself clinically in very different ways, with minor to severe impairments. Therefore, based on clinical description, there are various apparently independent diseases with corresponding names.
X-linked hydrocephalus with aqueduct stenosis (HSAS)
- Pronounced hydrocephalus , often recognizable prenatally
- Adducted thumb due to a muscle defect in the thumb extensors ( extensor pollicis brevis or extensor pollicis longus )
- Spasticity with hyperreflexia
- Severe intellectual disability
MASA syndrome
Acronym for mental retardation, aphasia , shuffling gait and adducted thumb.
- Mild to moderate intellectual disability
- Delayed start of speech
- Muscular hypotonia worsening in spasticity
- Adducted thumb due to a muscle defect in the thumb extensors
- Extension of the III. Cerebral ventricle
SPG1 (X-Linked Complicated Hereditary Spastic Paraplegia Type I)
- Spastic paraplegia
- Mild to moderate intellectual disability
- Normal magnetic resonance imaging of the brain
X-linked complex corpus callosum agenesis
- Variable spastic paraplegia
- Mild to moderate intellectual disability
- Bar deficiency from dysplasia to hypoplasia to aplasia
diagnosis
A prenatal diagnosis is possible.
Individual evidence
- ↑ a b L1CAM syndrome. In: Orphanet (Rare Disease Database).
- ↑ a b E. Fransen, V. Lemmon, G. Van Camp, L. Vits, P. Coucke, PJ Willems: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. In: European journal of human genetics: EJHG. Volume 3, Number 5, 1995, pp. 273-284, ISSN 1018-4813 . PMID 8556302 . (Review).
- ^ FJ Gareis, JD Mason: X-linked mental retardation associated with bilateral clasp thumb anomaly. In: American journal of medical genetics. Volume 17, Number 1, January 1984, pp. 333-338, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320170126 . PMID 6538753 .
- ↑ L1CAM syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ GeneReviews
- ↑ Roger N. Rosenberg, Juan M. Pascual: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. 2015, ISBN 978-0-12-410529-4 , p. 1391.
- ↑ C. Schrander-Stumpel, JP Fryns: Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counseling. In: European Journal of Pediatrics. Volume 157, Number 5, May 1998, pp. 355-362, ISSN 0340-6199 . PMID 9625330 . (Review).
- ^ JW Bianchine, RC Lewis: The MASA syndrome: a new heritable mental retardation syndrome. In: Clinical genetics. Volume 5, Number 4, 1974, pp. 298-306, ISSN 0009-9163 . PMID 4855169 .
- ^ PJ Willems, OF Brouwer, I. Dijkstra, J. Wilmink: X-linked hydrocephalus. In: American journal of medical genetics. Volume 27, Number 4, August 1987, pp. 921-928, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320270419 . PMID 3425602 .
Web links
- L1CAM syndrome. In: Online Mendelian Inheritance in Man . (English)
