Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease: Figure 1

Nascimento, M.; Rodrigues, Nádia Cristina Pinheiro; Espada, Filipa; Fonseca, Marcelo Cunio Machado

doi:10.1136/bcr-2012-006308

Cited by 9 publications

(9 citation statements)

References 20 publications

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“…Adrenal insufficiency and APS type 2 are rare diagnoses in the pediatric and adolescent population, although both disorders have been described in children. 4,8-11…”

Section: Discussionmentioning

confidence: 99%

“…Other investigators have emphasized the wide ranging clinical and laboratory findings associated with adrenal insufficiency, the importance of screening for adrenoleukodystrophy, the importance of alterations in glucose levels, and insulin requirements in type 1 diabetes as it relates to surveillance, and determining etiology and screening for concomitant disorders. 4,8-11…”

Section: Discussionmentioning

confidence: 99%

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A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

Smith

Gerrits

2019

Global Pediatric Health

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Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison’s and Hashimoto’s diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.

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“…Adrenal insufficiency and APS type 2 are rare diagnoses in the pediatric and adolescent population, although both disorders have been described in children. 4,8-11…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

Smith

Gerrits

2019

Global Pediatric Health

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“…The authors highlight that primary adrenal insufficiency may be the first sign of of X-linked ALD. [ 8 ]…”

Section: Discussionmentioning

confidence: 99%

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging

et al. 2013

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Adrenoleukodystrophy (ALD) is a genetic disease associated with demyelination of the central nervous system, adrenal insufficiency, and accumulation of very long-chain fatty acids in tissue and body fluids. The attempt of this paper is to review the classical and not-so-classical MR imaging manifestations of adrenoleukodystrophy. A review of literature is done to describe the pathophysiology of the disease and the imaging differences between childhood and adult-onset of the disease. The literature is reviewed to explain the link with Addison's disease. In consensus the magnetic resonance imaging (MRI) findings of symmetrical occipital white matter lesions which progress in a rostro-caudal direction is the classical appearance of ALD. Familiarity with the clinico-pathologic manifestations and progressive MR imaging features of childhood cerebral X-linked ALD will be helpful in evaluating the affected patients.

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“…If necessary, systematic rehabilitation and anticonvulsant treatment is used to reduce muscle tension. X-ALD patients with adrenal insufficiency receive hormonal replacement, mainly hydrocortisone [27].…”

Section: Treatmentmentioning

confidence: 99%

“…Nadal trwają badania z zastosowaniem bezafibratu, substancji hamującej aktywność ELOVL1, które potwierdzają dobrą tolerancję i bezpieczeństwo stosowania [25,26]. W razie potrzeby stosuje się leczenie przeciwdrgawkowe, obniżające napięcie mięśniowe oraz systematyczną rehabilitację, a u pacjentów ze stwierdzoną niewydolnością kory nadnerczy-substytucję hormonalną, głównie hydrokortyzonu [27].…”

Section: Leczenie Adrenoleukodystrofiiunclassified

Mental disorders in neurological diseases. Can symptoms of bipolar disorder be the first manifestation of X-linked adenoleukodystrophy? A case report

Trela

Sieńko

Futyma-Jędrzejewska

et al. 2020

Current Problems of Psychiatry

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BackgroundX-linked adrenoleukodystrophy (X-ALD) is an inherited metabolic disease which causes demyelination of the white matter of the brain. The symptoms include mental impairment, progressive paresis, impaired motor coordination, and epileptic seizures. Diagnosis is established mainly by genetic testing. Currently, the recommended treatment is haematopoietic stem cell transplantation (HSCT).GoalThe aim of the study was to present the case of a patient suffering from X-ALD, who developed symptoms of bipolar disorder in the initial phase of the disease prior to the onset of characteristic neurological symptoms.Case presentationIn 2015, a 33-year-old patient was admitted to a psychiatric department due to aggressive behaviour he showed towards his wife and other family members. He had been treated for a depressive episode in 2005, and for a manic episode without psychotic symptoms earlier in 2015. During the successive psychiatric hospitalizations, in addition to psychopathological symptoms, the patient had been observed to have neurological symptoms, which included progressive paraparesis and ataxia. In 2018, based on imaging and genetic tests, the patient was diagnosed with X-ALD. The patient's condition gradually deteriorated; with time, he was unable to move on his own. During a hospital stay in 2019, he was transferred to an internal medicine department due to a progressive urinary tract infection, which, however, could not be controlled, and the patient died.ConclusionsX-ALD is a rare metabolic illness. In the early stages of the disease, various psychopathological symptoms, including affective disorders, are observed.Early initiation of adequate treatment increases the chances of extending the patient's life.In the present case, the patient did not die due to the underlying disease, but due to causes typical of bed-bound patients, i.e. complications of progressing infection.

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Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease: Figure 1

Cited by 9 publications

References 20 publications

A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging

Mental disorders in neurological diseases. Can symptoms of bipolar disorder be the first manifestation of X-linked adenoleukodystrophy? A case report

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