RESUMO
A 4-year-old girl presented to the paediatric department with a red squamous spot around her right eye. Based on the clinical presentation and anamnesis, we suspected a zoonotic dermatomycosis obtained via her guinea pigs. PCR of the skin flakes revealed dermatophytes.
Assuntos
Dermatomicoses/diagnóstico por imagem , Dermatopatias/diagnóstico , Zoonoses , Animais , Pré-Escolar , Dermatomicoses/transmissão , Feminino , Cobaias , HumanosRESUMO
Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were overlapping by 8.35 Mb (8q24.21q24.23). The clinical features shared by our patients were coloboma, VSD, digital abnormalities, congenital dislocation of a hip, feeding problems, psychomotor delay and convulsions. The deletion included the region for Langer-Giedion syndrome (TRPS1 and EXT1) in the girl only. However, she is too young to present features of this syndrome, apart from dysmorphic features like a bulbous nose and notched alae nasi. Several genes are present in the commonly deleted region, including genes with unknown function, and genes for which haploinsufficiency is known to have no phenotypic effect in mice (Wnt1). A gene that might play a role in the convulsions of our patients is KCNQ3.
Assuntos
Anormalidades Múltiplas/genética , Deleção Cromossômica , Cromossomos Humanos Par 8 , Coloboma/genética , Cardiopatias Congênitas/genética , Convulsões/genética , Coloração Cromossômica , Hibridização Genômica Comparativa , DNA/genética , Evolução Fatal , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Síndrome de Langer-Giedion/genética , Masculino , Padrões de ReferênciaRESUMO
Three boys, aged 5, 11 and 14 years, were admitted due to vomiting, fatigue and dehydration, and a 10-year-old boy was admitted due to circulatory and respiratory insufficiency. Two had Addison's disease, one had a late presentation of congenital adrenal hypoplasia due to a DAX-1 mutation and in one adrenal insufficiency was the first manifestation ofadrenoleukodystrophia. The boys recovered after treatment. It is important to recognise the symptoms of adrenal insufficiency, because treatment can be life-saving. After the initial diagnosis the underlying pathology should be sought.
