RESUMO
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in GJA3, which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in GJA3 are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive GJA3 allele, and the first report in African Americans. These results validate GJA3 as a bona fide gene for recessively inherited CC in humans.
Assuntos
Catarata/congênito , Catarata/genética , Conexinas/química , Conexinas/genética , Mutação de Sentido Incorreto/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Feminino , Homozigoto , Humanos , Domínios ProteicosRESUMO
Parotid lipomatosis is extremely rare in children. Only 4 cases have previously been reported in the English language medical literature. Surgical excision is frequently complicated by recurrence. We report, a fifth case, on a 5-month-old girl with rapidly progressive parotid lipomatosis. Emphasis is laid on the importance of preserving the unusually delicate tumor capsule to prevent tissue spillage and recurrence. The creation of an appropriate cleavage between the mass and the expanded skin with sparse subcutaneous fat, safeguarding the tumor capsule on one side and the skin blood supply on the other, represents a rewarding technical challenge.
