Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Menon, Jagadeesh; Shanmugam, Naresh; Srinivas, Sripriya; Vij, Mukul; Jalan, Anil; Reddy, Mettu Srinivas; Rela, Mohamed

doi:10.1055/s-0040-1715119

Cited by 4 publications

(17 citation statements)

References 10 publications

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Section: Introductionmentioning

confidence: 99%

“…Wolman disease, a lysosomal storage disease, is a rare autosomal recessive disorder characterized by the deficiency of acid lipase enzyme activity [1] , [2] , [3] , [4] secondary to a mutation in LIPA gene [3] . Infants present with abdominal distension, vomiting, failure to thrive, steatorrhea [3] , and hepatosplenomegaly [1] . Due to the absence of acid lipase enzyme activity, lipids accumulate in adrenal glands, liver, spleen, bone marrow, small bowel [1 , 2 , 4] , and even vascular endothelium, causing atherosclerosis [3] .…”

Section: Introductionmentioning

confidence: 99%

“…Infants present with abdominal distension, vomiting, failure to thrive, steatorrhea [3] , and hepatosplenomegaly [1] . Due to the absence of acid lipase enzyme activity, lipids accumulate in adrenal glands, liver, spleen, bone marrow, small bowel [1 , 2 , 4] , and even vascular endothelium, causing atherosclerosis [3] . The pathognomonic appearance of the disease is enlarged bilateral adrenal calcifications with preserved shape [3] .…”

Section: Introductionmentioning

confidence: 99%

“…Due to the absence of acid lipase enzyme activity, lipids accumulate in adrenal glands, liver, spleen, bone marrow, small bowel [1 , 2 , 4] , and even vascular endothelium, causing atherosclerosis [3] . The pathognomonic appearance of the disease is enlarged bilateral adrenal calcifications with preserved shape [3] . CT scan is the imaging modality of choice for the evaluation of Wolman disease [4] .…”

Section: Introductionmentioning

confidence: 99%

“…Additional CT findings are hepatomegaly with fat infiltration, splenomegaly [2] , and hypoattenuating enlarged mesenteric lymph nodes [4 , 5] . The prognosis of Wolman disease is severely poor, and patient demise occurs in the first year of life [1] , [2] , [3] , [4] . The imaging features are important for the recognition of the disease.…”

Section: Introductionmentioning

confidence: 99%

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CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report

Foladi

Aien

2021

Radiology Case Reports

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Wolman disease is a lethal rare autosomal recessive disorder defined by the deficiency of acid lipase enzyme. The disease is a lysosomal storage disease. Multiple organs such as adrenal glands, liver, spleen, bone marrow, small bowel loops, and abdominal lymph nodes are infiltrated by the deposition of lipids. Infants generally present with failure to thrive, abdominal distention, vomiting, steatorrhea, and hepatosplenomegaly. Authors’ present a 1 month-old male infant with abdominal distention and failure to thrive who was referred for abdomen CT scan. The CT scan revealed stippled calcifications of both enlarged adrenal glands, without the distortion of the adreniform shape, fatty liver, splenomegaly and thickened small bowel loops; characteristic imaging findings of Wolman disease. CT scan is the imaging modality of choice for the recognition of the disease. There is no definite cure explained yet. Further studies are required to find the definite treatment of the disease.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report

Foladi

Aien

2021

Radiology Case Reports

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Lysosomes in senescence and aging

Tan,

Finkel

2023

EMBO Reports

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Dysfunction of lysosomes, the primary hydrolytic organelles in animal cells, is frequently associated with aging and age‐related diseases. At the cellular level, lysosomal dysfunction is strongly linked to cellular senescence or the induction of cell death pathways. However, the precise mechanisms by which lysosomal dysfunction participates in these various cellular or organismal phenotypes have remained elusive. The ability of lysosomes to degrade diverse macromolecules including damaged proteins and organelles puts lysosomes at the center of multiple cellular stress responses. Lysosomal activity is tightly regulated by many coordinated cellular processes including pathways that function inside and outside of the organelle. Here, we collectively classify these coordinated pathways as the lysosomal processing and adaptation system (LYPAS). We review evidence that the LYPAS is upregulated by diverse cellular stresses, its adaptability regulates senescence and cell death decisions, and it can form the basis for therapeutic manipulation for a wide range of age‐related diseases and potentially for aging itself.

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Modern concepts about lysosomal acid lipase deficiency (review)

Kotova,

Shcherbak,

Shcherbak

2024

Pediatr (SPb)

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Lysosomal acid lipase deficiency is a rare heterogeneous autosomal recessive heterogeneous genetic disorder whose manifestations often result in severe morbidity and mortality. The development of the disease is associated with the accumulation of cholesterol esters and triglycerides in organs and tissues, which in turn leads to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption syndrome and other symptoms. The true prevalence of the disease is unknown, the estimated incidence in Russia is 1 : 100,000–150,000 of the child population. Depending on the residual activity of the enzyme, 2 variants of the clinical course of the disease are distinguished. The most severe and also rare variant is Wolman’s disease, identified and described in 1961 by Israeli neurologist Moshe Wolman. This disease progresses during the first year of a child’s life and in most cases, due to the difficulties of diagnosis, leads to the death of patients. A milder but more common variant of LAL-D, occurring in children over one year of age and adults, is cholesteryl ester storage disease, described in 1968. The nonspecificity of symptoms of LAL-D at an early stage leads to the fact that the diagnosis of this condition is prolonged or missed by clinicians. An increase in liver enzymes in combination with hepato- and splenomegaly, dyslipidemia should alert the doctor and lead to early diagnosis of LAL-D even at the outpatient stage of examination, thereby increasing the duration and quality of life of patients. Differential diagnosis is carried out with Gaucher disease, Niemann–Pick disease, familial hypercholesterolemia, non-alcoholic steatohepatitis and other storage diseases. The main method of treatment is enzyme replacement therapy with sebelipase-alpha. Studies have shown its effectiveness in increasing the life expectancy of patients. It is recommended to use a multidisciplinary approach in the management of patients with LAL-D at all stages, since the disease is characterized by damage to many organs and systems and requires complex therapy. The biochemical and pathophysiological processes occurring in the body with deficiency of lysosomal acid lipase are considered.

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Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis

Cited by 4 publications

References 10 publications

CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report

CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report

Lysosomes in senescence and aging

Modern concepts about lysosomal acid lipase deficiency (review)

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