Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association.
نویسندگان
چکیده
A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.
منابع مشابه
Extracutaneous infantile haemangioma is also Glut1 positive.
AIM To investigate whether extracutaneous infantile haemangioma-like tumours are immunohistochemically similar to cutaneous infantile haemangiomas. METHODS Mammary, salivary gland, liver (one each), and placental (two cases) capillary haemangiomas and typical examples of cutaneous (eight cases) infantile haemangioma were investigated immunohistochemically for alpha smooth muscle actin and Glu...
متن کاملA case report of beckwith-wiedemann syndrome
beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...
متن کامل46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report
INTRODUCTION Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Bec...
متن کاملCystic Fibrosis and Beckwith-Wiedemann Syndrome: A Case Report
Cystic fibrosis (CF) is a hereditary disease of exocrine gland function that involves multiple systems but chiefly results in chronic respiratory infections, the major cause of death, pancreatic enzyme deficiency and severe malnutrition, mostly in untreated patients. The association between CF and other inherited diseases or congenital anomalies is rare. We describe for the first time the assoc...
متن کاملKlippel-Trenaunay syndrome, an unusual association with persistent lateral marginal vein of Servelle: colour Doppler and 256 dual-source MDCT evaluation.
To cite: Garg L, Mittal UK, Puri SK, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210051 DESCRIPTION A 35-year-old woman presented with pain, skin discolouration, and gradually increasing swelling and dilation of the veins of the left lower limb. On examination, there was dilation and tortuosity of the superficial veins of the left lower limb, limb h...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- BMJ case reports
دوره 2013 شماره
صفحات -
تاریخ انتشار 2013