Arterial Tortuosity Syndrome in a Neonate
Neonatal Medicine
;
: 49-52, 2018.
Artículo
en Inglés
| WPRIM
| ID: wpr-741653
ABSTRACT
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease characterized by generalized elongation and tortuosity of the medium- to large-sized arteries, and other systemic connective tissue manifestations. To date, this disease entity has not been reported in Korea. We report a case of ATS diagnosed in a neonate who presented with severe elongation and tortuosity of the aorta and its major branches, as well as the intracranial arteries. Additionally, the patient presented with a tortuous dilatation of the inferior vena cava, an aneurysmal dilatation of the extra-hepatic bile ducts, and an inguinal and sliding hiatal hernia. The diagnosis was confirmed using DNA sequencing analysis, and the patient demonstrated a compound heterozygosity for two novel mutations (c.738delG [p.Gln247Serfs*33] and c.362T>C [p.Ile121Thr]) in exon 2 of the SLC2A10 gene. Genetic analysis also confirmed that both parents were heterozygous carriers of the responsible mutations. Owing to such clinical manifestations, ATS is often misdiagnosed as other connective tissue diseases including Loeys-Dietz syndrome, Marfan syndrome, and Ehlers-Danlos syndrome. In patients presenting with a high index of suspicion, thorough clinical evaluation and screening for ATS including computed tomography or magnetic resonance angiography and target gene analysis are necessary for early diagnosis and management.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Aorta
/
Aneurisma de la Aorta
/
Padres
/
Arterias
/
Vena Cava Inferior
/
Conductos Biliares
/
Tamizaje Masivo
/
Exones
/
Análisis de Secuencia de ADN
/
Angiografía por Resonancia Magnética
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
/
Recién Nacido
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Neonatal Medicine
Año:
2018
Tipo del documento:
Artículo
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