Lethal polymalformative syndrome, Boissel type

Lethal polymalformative syndrome, Boissel type (also referred to as Boissel syndrome) is an extremely rare and severe genetic disorder characterized by multiple congenital malformations that are incompatible with life. This condition was described in association with biallelic mutations in the ASNS gene, which encodes asparagine synthetase, an enzyme critical for the biosynthesis of the amino acid asparagine. Deficiency of this enzyme leads to profound developmental abnormalities affecting multiple organ systems. The syndrome presents at birth or prenatally with severe microcephaly (abnormally small head), marked brain malformations including simplified gyral pattern and cortical atrophy, intrauterine growth restriction, and skeletal anomalies. Additional features may include congenital heart defects and other visceral malformations. Affected infants typically have a very poor prognosis, with death occurring in the neonatal period or early infancy due to the severity of the combined malformations. There is currently no curative treatment for this condition. Management is supportive and palliative in nature. Genetic counseling is recommended for affected families, as the condition follows an autosomal recessive inheritance pattern, meaning both parents carry one copy of the mutated gene. Prenatal diagnosis may be available for families with a known molecular diagnosis.

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