robin082006
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A neonate born at 37 weeks' gestation presents with hypotonia, lethargy and poor feeding over the past three hours. Pregnancy was uneventful, but during delivery, he presented with shoulder dystocia which was complicated by a fracture of the clavicle. Apgar scores were 7 at one minute and 8 at five minutes. His birth weight was 4000 g. Vital signs are normal and, on examination, you note enlarged tongue, mild microcephaly, prominent occiput, prominent eyes and omphalocele. Abdominal palpation reveals an enlarged liver and kidneys. Initial work-up reveals hypoglycemia and hyperinsulinemia. Which of the following is the most likely diagnosis?
A. Congenital hypothyroidism
B. Maternal diabetes
C. Beckwith-Wiedemann syndrome
D. WAGR syndrome
E. Denys-Drash syndrome
F. Galactosemia
G. Von-Gierke disease
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| prathapdoctor
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BECKWITH - WIEDMANN SYN.
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| Guptashutosh
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Disease characteristics. Beckwith-Wiedemann syndrome (BWS) is a disorder of growth characterized by macrosomia (large body size), macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly). Infants with BWS have an approximately 20% mortality rate, mainly caused by complications of prematurity. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around seven to eight years of age. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues
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