|Year : 2020 | Volume
| Issue : 4 | Page : 272-274
Choleteryl ester storage disease: A rare cause of adrenal calcifications in children
Fatiha Benmiloud, Maria Rkain, A El Aouali, A Babakhouya, Noufissa Benajiba
Department of Pediatric, Faculty of Medicine and Pharmacy of Oujda, The Mohammed VI University Hospital, Mohamed I University, Oujda, Morocco
|Date of Submission||29-Mar-2020|
|Date of Decision||05-Oct-2020|
|Date of Acceptance||28-Oct-2020|
|Date of Web Publication||21-Dec-2020|
Department of Pediatric, Faculty of Medicine and Pharmacy of Oujda, The Mohammed VI University Hospital, Mohamed I University, Oujda
Source of Support: None, Conflict of Interest: None
Cholesteryl ester storage disease (CESD) in children is a rare anatomo-clinical entity, characterized by a secondary lysosomal accumulation and an autosomal recessive mutation in the LIPA gene, which results from a lysosomal acid lipase (LAL) deficiency. The work of this paper is based on our observation of a 25-month-old infant, who had an abdominal distension with a hepatomegaly of 13 cm. The abdomen X-ray has shown some bilateral adrenal calcifications. The results of the biological assessment : the hepatic check showed a slight cytolysis, triglycerides increased to 5.4 g.l with a reduced rate of high density lipoproteins. The blood smear has shown the presence of intracytoplasmic lipid vacuoles in the lymphocytes, with a positive MGG staining and a negative PAS staining. The activity of the LAL enzyme has decreased to 3.6%. This observation joins the rare pediatric cases of the CESD and highlights the interest in a simply available radiological examination to make a guidance diagnosis of a complex metabolic disorder.
Keywords: Abdominal X-ray, cholesterol ester storage disease, lysosomal acid lipase
|How to cite this article:|
Benmiloud F, Rkain M, El Aouali A, Babakhouya A, Benajiba N. Choleteryl ester storage disease: A rare cause of adrenal calcifications in children. Apollo Med 2020;17:272-4
|How to cite this URL:|
Benmiloud F, Rkain M, El Aouali A, Babakhouya A, Benajiba N. Choleteryl ester storage disease: A rare cause of adrenal calcifications in children. Apollo Med [serial online] 2020 [cited 2021 Jan 25];17:272-4. Available from: https://www.apollomedicine.org/text.asp?2020/17/4/272/304271
| Introduction|| |
Cholesterol ester storage disease (CESD) is a rare secondary lysosomal accumulation disorder with an autosomal recessive mutation in the LIPA gene, resulting from a partial lysosomal acid lipase (LAL) deficiency. When there is a total deficiency, it is called the Wolman's disease, the early-onset type of LAL that occurs during the 1st week of life.
The specific aspect of the adrenal calcifications discovered in the abdominal X-ray (AXR) portrays a major factor of orientation; the definitive diagnosis relies on the activity dosage of the lipase acid in the leukocytes and fibroblasts , or the search for a mutation in the LIPA gene.,
| Case Report|| |
It involves a 25-month-old male infant with the first-degree consanguineous parents and with a normal psychomotor and weight-thriving development; there had been a family antecedent with an uncle who died at the age of 3 years due to hepatic insufficiency. Our patient was admitted for an abdominal distension ascended to the neonatal age. The first clinical examination revealed a good hemodynamic status with a good development of height and weight, the abdominal examination showed an abdominal distension with a 13 CM hepatomegaly, with a sharp edge and a smooth hepatic surface without any splenomegaly and no sign of hepatocellular deficiency, additionally, the colors of urine and stool were normal, the pleuropulmonary examination as well as the the cardiovascular and the neurological examinations did not show any abnormality.
The AXR has shown some bilateral adrenal calcifications [Figure 1], which were confirmed with the abdominal ultrasonography; the computed tomography (CT) scan featured that the two adrenal glands maintain their triangular shape, containing the peripheral calcifications [Figure 2].
|Figure 2: An abdominal computed tomography scan of our patient confirming the confirming the presence of adrenal calcifications|
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The biology report results were a liver function test in favor of a small cytolysis (elevated transaminases by two times more than normal), a 100% prothrombin ratio, and an albumin of 42 g/L; the level of triglyceride was elevated to 5.4 g/L; while the high-density lipoprotein (HDL) rate decreased to 0.3 mmol/L. The blood smear has shown the presence of intracytoplasmic lipid vacuoles in the lymphocytes with a positive MGG staining and a negative PAS staining. The activity of the LAL enzyme has decreased to 3.6%. Our patient was diagnosed with the CESD.
The infant was held in a hyperlipid diet with a parenteral nutrition enriched by medium-chain triglycerides; a genetic counseling was given. The short-term development was favorable.
| Discussion|| |
CESD is the less severe type of the LAL deficiency with a decreased but persistent enzyme activity; this deficiency leads to cholesterol ester and triglycerides accumulation in the tissue.
It is a rare pathology, but it remains underdiagnosed because of the difficulty of carrying out the certainty examination.
CESD was first described by Moshe Wolman in 1956, who published a study of 61 family cases of familial xanthomatosis with adrenal calcifications. It is secondary to an autosomal recessive mutation in the LIPA gene.,,
CESD appears either in late adolescence or during adulthood, it must be evoked with a hepatomegaly whether it is associated or not with a splenomegaly and /or esophageal varices, recurrent abdominal pain; digestive problems.
The most severe form of CESD is called the Wolman disease where there is a total LAL deficiency; it occurs within the 1st week of life with a hepatosplenomegaly, digestive disorders, psychomotor development trouble, failure to thrive, undernutrition, and progressive liver failure, leading to death during the 1st year of life. About 50 cases have been reported in the literature.,
Biological tests during CESC may unspecifically reveal chronic cytolysis, cholestasis, anomalies in the lipid profile; A hypercholesterolemia, an increase in both low density lipoproteins and triglycerides, a decrease in the level of high density lipoproteins HDL. The blood smear and myelogram may show foam cells and vacuolated lymphocytes. The definitive diagnosis relies on the activity dosage of the lipase acid in the leukocytes and fibroblasts, or the search for a mutation in the LIPA gene.,,
The AXR could indicate the presence of massive adrenal calcifications assured by the abdominal ultrasonography with a homogeneous hyperechoic hepatomegaly, a homogeneous splenomegaly, and a mesenteric infiltration with lymphadenopathies. The CT scan confirms the ultrasound results, via the presence of a large hypodense liver with fat accumulation and adrenal calcifications affecting the cortex yet not the medullary area.
The other etiologies of adrenal calcifications are multiple; tuberculous sequelae, the stigmas of adrenal hematoma, underlying lesions of the following types ,adrenal cortex and pheochromocytoma.
The combination of a hepatomegaly and the bilateral and massive adrenal calcifications is a pathognomonic of the CESD.
In 2014, Nowel and Al have reported a case of a 20 year old female patient, the cases reported in the literature concern only adults and teenagers but in the pediatric field the cases remain rare.
There are no pediatric cases who have been reported in the developing countries, hence the peculiarity of our observation.
The symptomatic treatment is based on the administration of hypolipidemic agents, parenteral or enteral nutrition enriched by medium-chain triglycerides.
The best treatment is still the marrow transplant (before the age of 3 months) that aims to restore the lipase acid's activity, and thus, digestive and hepatic functions would secure a survival without neuromuscular sequelae, and the enzyme replacement therapy is still in clinical trial. The autosomal recessive transmission mode imposes genetic counseling.
| Conclusion|| |
Our observation points out the interest in a simply available radiological examination, to make a guidance diagnosis of a complex metabolic disorder to be able to inquire for the certainty tests to confirm the diagnosis. CESD pediatric cases remain rare, hence the novelty of our observation.
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Conflicts of interest
There are no conflicts of interest.
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