Document Detail

Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis.
MedLine Citation:
PMID:  18648327     Owner:  NLM     Status:  MEDLINE    
Hydrolethalus syndrome is a lethal malformation syndrome with a severe brain malformation, most often hydrocephaly and absent midline structures. Other frequent findings are micrognathia, polydactyly, and defective lobation of the lungs. Hydrolethalus syndrome is inherited in an autosomal recessive manner and is caused by a missense mutation in the HYLS1 gene. Here, we report the neuropathologic features of 21 genetically confirmed cases. Typically, 2 separated cerebral hemispheres could be identified, but they lacked midline and olfactory structures and were situated basally with a massive accumulation of cerebrospinal fluid. Temporal and occipital lobes were hypoplastic, and normally developed hippocampi were not found. Primitive thalami and basal ganglia were fused in the midline. A hypothalamic hamartoma was a frequent finding, and brainstem and cerebellum were hypoplastic. Three cases were hydranencephalic, and 1 was anencephalic. A midline "keyhole" defect in the skull base was a constant finding. Histologically, the cortex was dysplastic. This pattern of brain pathology, clearly belonging to the midline patterning defects, seems to be unique for the hydrolethalus syndrome and combines features of disturbed neurulation, prosencephalization, and migration. Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1.
Anders Paetau; Heli Honkala; Riitta Salonen; Jaakko Ignatius; Marjo Kestilä; Riitta Herva
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of neuropathology and experimental neurology     Volume:  67     ISSN:  0022-3069     ISO Abbreviation:  J. Neuropathol. Exp. Neurol.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-08-01     Completed Date:  2008-09-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2985192R     Medline TA:  J Neuropathol Exp Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  750-62     Citation Subset:  IM    
Department of Pathology, University of Helsinki, Helsinki, Finland.
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MeSH Terms
Abnormalities, Multiple / embryology,  genetics*,  pathology*
Autopsy / methods
Central Nervous System / metabolism,  pathology*
Gestational Age
Glial Fibrillary Acidic Protein / metabolism
Linkage Disequilibrium / genetics
Microtubule-Associated Proteins / metabolism
Proteins / genetics*
Reg. No./Substance:
0/Glial Fibrillary Acidic Protein; 0/HYLS1 protein, human; 0/MAP2 protein, human; 0/Microtubule-Associated Proteins; 0/Proteins

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