A 34-year-old pregnant woman, gravida 2 para 1, was referred to our department at 22 weeks’ gestation for routine antenatal ultrasound examination. She previously had one uncomplicated pregnancy. Her personal and family medical history were unremarkable.
Images
Image 1: Fetal abdominal ultrasound images: sagittal scans showing bilateral enlarged, hyperechoic adrenal glands, right (1a) and left (1b), with posterior shadowing (yellow arrows).
Image 2: Fetal abdominal ultrasound image: axial scan showing extensive bilateral calcifications of the adrenal glands (red arrows).
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1. Question
Question: Which diagnosis do you consider?
Correct
CORRECT ANSWER EXPLAINED BELOW
Correct answer is: Wolman disease
Discussion
Wolman disease (WD), is a rare autosomal recessive lysosomal storage disorder. It results from a profound deficiency in the lysosomal acid lipase (LAL) enzyme. Tragically, it leads to fatality within the initial year of life (1). Radiological findings in WD include a characteristic pattern of stippled calcification in enlarged but normally shaped adrenal glands (1). Hepatosplenomegaly and lymphadenopathy may also be observed (2). The calcifications delineate the cortical outline only of both glands, and this sign appears to be pathognomonic for the disease. This phenomenon arises from the saponification of fatty acids followed by their calcification.
Conclusion
WD is a rare autosomal recessive lysosomal disorder that often proves fatal within the first year. A key diagnostic indicator is the presence of normally shaped, bilaterally enlarged adrenal glands with dense cortical calcifications, detectable via prenatal ultrasound, improving management.
Conflicts of Interest:
The authors declare no conflict of interest.
References
Sen D, Satija L, Saxena S, Rastogi V, Singh M. A rare constellation of imaging findings in Wolman disease. Med J Armed Forces India. dec 2015;71(Suppl 2):S448‑51.
Sadhukhan M, Saha A, Vara R, Bhaduri B. Infant case of lysosomal acid lipase deficiency: Wolman’s disease. BMJ Case Rep. 2014 May 15;2014: bcr2013202652.
Incorrect
CORRECT ANSWER EXPLAINED BELOW
Correct answer is: Wolman disease
Discussion
Wolman disease (WD), is a rare autosomal recessive lysosomal storage disorder. It results from a profound deficiency in the lysosomal acid lipase (LAL) enzyme. Tragically, it leads to fatality within the initial year of life (1). Radiological findings in WD include a characteristic pattern of stippled calcification in enlarged but normally shaped adrenal glands (1). Hepatosplenomegaly and lymphadenopathy may also be observed (2). The calcifications delineate the cortical outline only of both glands, and this sign appears to be pathognomonic for the disease. This phenomenon arises from the saponification of fatty acids followed by their calcification.
Conclusion
WD is a rare autosomal recessive lysosomal disorder that often proves fatal within the first year. A key diagnostic indicator is the presence of normally shaped, bilaterally enlarged adrenal glands with dense cortical calcifications, detectable via prenatal ultrasound, improving management.
Conflicts of Interest:
The authors declare no conflict of interest.
References
Sen D, Satija L, Saxena S, Rastogi V, Singh M. A rare constellation of imaging findings in Wolman disease. Med J Armed Forces India. dec 2015;71(Suppl 2):S448‑51.
Sadhukhan M, Saha A, Vara R, Bhaduri B. Infant case of lysosomal acid lipase deficiency: Wolman’s disease. BMJ Case Rep. 2014 May 15;2014: bcr2013202652.
