Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.

A three-year-old Chinese girl presented with hyperammonemia was diagnosed biochemically and genetically (heterozygous for a novel likely pathogenic missense variant c.476T>A) as having ornithine transcarbamylase (OTC) deficiency, a rare X-linked recessive urea cycle disorders. Extensive family genetic screening eventually revealed paternal gonadosomatic mosaicism.

Extensive amyloid deposits in bone marrow aspirate smears.

Amyloid light-chain (AL) amyloidosis is the most common form of systemic amyloidosis. It can cause progressive organ dysfunction and eventually death, mainly due to cardiac involvement. Amyloidosis may rarely present as extensive amorphous, purplish-blue deposits in marrow aspirate smears.