21 results
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
calcification of both adrenal ... acid lipase is critical ... #clincial #peds ... #infant #NEJM # ... Wolmans #radiology
Congenital absence of the pericardium: 
- CXR: leftward shift of the cardiac silhouette, Snoopy sign, no
Congenital absence ... deviation - CMR: left posterolateral ... alberto_bouzas #Congenital ... #pericardium #clinical ... #cxr #radiology
Congenital absence of the pericardium: 
- CXR: leftward shift of the cardiac silhouette, Snoopy sign, no
Congenital absence ... deviation - CMR: left posterolateral ... alberto_bouzas #Congenital ... #chest #radiology ... #clinical
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... 21-OHD in the adrenal ... also known as "congenital ... adrenal hyperplasia ... endocrinology #peds
Urinary Tract Tuberculosis - Contrast-enhanced computed tomography (CT) of the abdomen showed mild dilatation of the
dilatation of the left renal ... bacilli (Panel D) #Clinical ... #Radiology #Pathology ... AcidFastBacilli #Microscopy #NEJM
Congenital Cytomegalovirus Infection- Ultrasonographic images showed ventricular dilatation in the fetal brain, and T2-weighted magnetic resonance
Congenital Cytomegalovirus ... that confirmed congenital ... Congenital CMV infection ... #clinical #NEJM ... #radiology #MRI
Acute Dacryocystitis- A 4-week-old boy was brought to the emergency department after having drainage from both
resulting from congenital ... #NEJM #clinical ... #photo #peds #acute
Esophageal Atresia and Tracheoesophageal Fistula- An infant had an apneic episode at birth and received positive-pressure
associated with congenital ... cardiovascular, renal ... #NEJM #clinical ... #radiology #esophageal
Whistling Cough- A 4-year-old boy presented to the otorhinolaryngology outpatient clinic with a 2-day history of
otorhinolaryngology outpatient clinic ... #NEJM #clinical ... #radiology #chest ... #xray #peds #respiratory
Congenital Rubella - On examination, the child had wandering eye movements with bilateral central, dense, white,
Congenital Rubella ... white, nuclear congenital ... pigmentation (Panel B) #Clinical ... Ophthalmology #Peds ... CongenitalRubella #NEJM