A case of de novo 18p deletion syndrome with panhypopituitarism
Annals of Pediatric Endocrinology & Metabolism
;
: 60-63, 2019.
Artigo
em Inglês
| WPRIM
| ID: wpr-762588
ABSTRACT
Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. She underwent ventilation tube insertion for recurrent otitis media with effusion. Brain magnetic resonance imaging showed an ectopic posterior pituitary gland and a shallow, small sella turcica with poor visualization of the pituitary stalk. Cytogenetic and chromosomal microarray analysis revealed a de novo deletion on the short arm of chromosome 18 (arr 18p11.32p11.21[136,227–15,099,116]x1). She has been treated with recombinant human growth hormone (GH) therapy since the age of 6 months after diagnosis of GH deficiency. Her growth rate has improved without any side effects from the GH treatment. This case expands the phenotypic spectrum of 18p deletion syndrome and emphasizes the positive impact of GH therapy on linear growth in this syndrome characterized by growth deficiency. Further studies are required to define the genotype-phenotype correlation according to size and loci of the deletion in 18p deletion syndrome and to predict prognosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hipófise
/
Neuro-Hipófise
/
Braço
/
Prognóstico
/
Sela Túrcica
/
Ventilação
/
Otite Média com Derrame
/
Cromossomos Humanos Par 18
/
Encéfalo
/
Hormônio do Crescimento
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2019
Tipo de documento:
Artigo
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