1.Imaging Findings of Neonatal Adrenal Disorders.
Hye Kyung YOON ; Bokyung Kim HAN ; Min Hee LEE
Journal of the Korean Radiological Society 1999;40(1):173-179
In newborn infants, normal adrenal glands are characterized by a relatively thin echogenic center surroundedby a thick, hypoechoic cortical rim as seen on ultrasound (US). Various disorders involving the neonatal adrenalgland include adrenal hemorrhage, hyperplasia, cyst, Wolman's disease, and congenital neuroblastoma. Adrenalhemorrhage is the most common cause of an adrenal mass in the neonate, though differentiation between adrenalhemorrhage and neuroblastoma is in many cases difficult. We describe characteristic US, CT and MR imaging findingsin neonates with various adrenal disorders.
Adrenal Glands
;
Hemorrhage
;
Humans
;
Hyperplasia
;
Infant, Newborn
;
Magnetic Resonance Imaging
;
Neuroblastoma
;
Ultrasonography
;
Wolman Disease
2.Imaging Findings of Neonatal Adrenal Disorders.
Hye Kyung YOON ; Bokyung Kim HAN ; Min Hee LEE
Journal of the Korean Radiological Society 1999;40(1):173-179
In newborn infants, normal adrenal glands are characterized by a relatively thin echogenic center surroundedby a thick, hypoechoic cortical rim as seen on ultrasound (US). Various disorders involving the neonatal adrenalgland include adrenal hemorrhage, hyperplasia, cyst, Wolman's disease, and congenital neuroblastoma. Adrenalhemorrhage is the most common cause of an adrenal mass in the neonate, though differentiation between adrenalhemorrhage and neuroblastoma is in many cases difficult. We describe characteristic US, CT and MR imaging findingsin neonates with various adrenal disorders.
Adrenal Glands
;
Hemorrhage
;
Humans
;
Hyperplasia
;
Infant, Newborn
;
Magnetic Resonance Imaging
;
Neuroblastoma
;
Ultrasonography
;
Wolman Disease
3.Wolman disease: report of a case.
Chinese Journal of Pathology 2013;42(4):276-277
Adrenal Glands
;
pathology
;
Codon, Nonsense
;
Exons
;
Female
;
Humans
;
Infant
;
Liver
;
pathology
;
Spleen
;
pathology
;
Sterol Esterase
;
genetics
;
Tomography, X-Ray Computed
;
Wolman Disease
;
diagnostic imaging
;
genetics
;
pathology
4.Wolman disease with novel mutation of LIPA gene in a Chinese infant.
Yong-lan HUANG ; Hui-ying SHENG ; Xiao-yuan ZHAO ; Jia-kang YU ; Le LI ; Hong-sheng LIU ; Cong-min GU ; Deng-min HE ; Li LIU
Chinese Journal of Pediatrics 2012;50(8):601-605
OBJECTIVETo explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis.
METHODLysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents. After the diagnosis was confirmed, the clinical, biochemical, radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed.
RESULTThe sixteen-day-old boy was failing to thrive with progressive vomiting, abdominal distention and hepatosplenomegaly. Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan. Xanthomatosis were observed on enlarged liver, spleen and lymph nodes during abdominal surgery. Liver and lymph node biopsy showed foamy histiocytes. The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg·h) [control 35.5 - 105.8 nmol/(mg·h)]. Serum chitotriosidase activity was 315.8 nmol/(ml·h) [control 0 - 53 nmol/(ml·h)]. The patient was homozygote for a novel insert mutation allele c.318 ins T, p. Phe106fsX4 in exon 4 on LIPA gene. His both parents were carriers of the mutation.
CONCLUSIONThe clinical features of Wolman disease include early onset of vomiting, abdominal distention, growth failure, hepatosplenomegaly and bilateral adrenal calcification after birth. A plain abdominal X-ray film should be taken to check for the typical pattern of adrenal calcification in suspected cases of Wolman disease. The enzymatic and molecular analyses of lysosomal acid lipase can confirm the diagnosis of Wolman disease.
Adrenal Gland Diseases ; etiology ; pathology ; Exons ; Humans ; Infant, Newborn ; Leukocytes ; enzymology ; Lipase ; blood ; genetics ; Liver ; pathology ; Lysosomes ; enzymology ; genetics ; Male ; Mutation ; Polymerase Chain Reaction ; Splenomegaly ; pathology ; Sterol Esterase ; genetics ; Tomography, X-Ray Computed ; Wolman Disease ; diagnosis ; enzymology ; genetics ; pathology