IllnessL1-Syndrom, Differentialdiagnose

NGS +

L1 syndrome includes a group of disorders that primarily affect the nervous system and occur almost exclusively in males. These disorders vary in severity and include, from most severe to least severe, X-linked hydrocephalus with stenosis of the Sylvian aqueduct (HSAS), MASA syndrome, spastic paraplegia type 1 and X-linked complicated corpus callosum agenesis. HSAS patients have adducted thumbs, often severe mental retardation and may have seizures. MASA syndrome includes mental retardation, aphasia, spasticity and adducted thumbs and sometimes mild enlargement of the ventricles. Spastic paraplegia type 1 is characterized by progressive spasticity and the development of paraplegia with mild to moderate mental retardation without abnormal brain structures. X-linked complicated corpus callosum agenesis is defined by hypoplasia or agenesis of the corpus callosum causing spastic paraplegia and mild to moderate intellectual disability. Life expectancy with L1 syndrome varies from shortly after birth to adulthood, depending on the severity of symptoms. Family members with the same L1CAM mutation may have quite different symptomatologies. The disease group is inherited in an X-linked manner. Because of the rarity of the syndrome and the highly variable symptoms, the molecular genetic yield is not yet known. Hence a negative DNA test result cannot exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1484/

• Alias: CRASH syndrome (L1CAM)
• Alias: Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
• Alias: L1CAM syndrome
• Alias: MASA syndrome )L1CAM)
• Allelic: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 (WDR81)
• Hydrocephalus due to aqueductal stenosis (L1CAM)
• Hydrocephalus with Hirschsprung disease (L1CAM)
• Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (L1CAM)
• Hydrocephalus, congenital, 1 (CCDC88C)
• Hydrocephalus, congenital, 2, with/-out brain or eye anomalies (MPDZ)
• Hydrocephalus, congenital, 3, with brain anomalies (WDR81)