Addison's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Addison's Disease, including details on chronic adrenal insufficiency, treatment, causes, medication.

A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report.

Abdulhamid I, Saadeh S, Cakan N

Pediatric Pulmonary Division, The Carman and Ann Adams Department of Pediatrics, Wayne State University, Children's Hospital of Michigan. 3901 Beaubien BLVD, Detroit, MI 48201, USA.

INTRODUCTION: X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. CASE PRESENTATION: A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. CONCLUSION: The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

Published 21 January 2010 in J Med Case Reports, 3: 9329.
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Articles on Addison's Disease published 21 January 2010:

Flexion contractures in secondary adrenal insufficiency.   Clin Rheumatol, 29(1): 115-7.

We report the case of a 55-year-old male with flexion contractures of the hips and the knees due to an isolated adrenocorticotropin (ACTH) deficiency, a rare cause of secondary adrenal insufficiency. The presenting symptoms and signs, the laboratory investigations and the treatment are described. The case description is followed by a brief overview of ACTH deficiency and its symptoms and causes. Our case is then compared with other case reports available in the literature. The aetiology of the ... [Abstract] [Full-text]

Steroid measurement with LC-MS/MS. Application examples in pediatrics.   J Steroid Biochem Mol Biol.

The correct measurement of steroids is vital for the diagnosis of congenital adrenal hyperplasia (CAH), apparent mineralocorticoid excess, familial hyperaldosteronism type I, primary aldosteronism, Cushing's disease, adrenal insufficiency, etc. Steroid diagnostics also plays an important role in disorders of sexual differentiation and gonadal function. Steroid metabolism is involved in evaluations for precocious puberty, premature thelarche, and polycystic-ovary disease. Finally, the ... [Abstract] [Full-text]

Articles on Addison's Disease published 18 January 2010:

Anti-CTLA-4 antibody therapy associated autoimmune hypophysitis: serious immune related adverse events across a spectrum of cancer subtypes.   Pituitary, 13(1): 29-38.

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Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene.   J Clin Endocrinol Metab.

Context: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia. Objective: The objective of the investigation was to study the functional and structural consequences of three novel StAR mutations (p.N148K in an Italian patient; p.P129fs and p.Q128R in a Turkish patient). Methods and Results: ... [Abstract] [Full-text]

Articles on Addison's Disease published 11 January 2010:

Management of Cushing's Syndrome due to Ectopic Adrenocorticotropin Secretion with 1,Ortho-1, Para'-Dichloro-Diphenyl-Dichloro-Ethane: Findings in 23 Patients from a Single Center.   J Clin Endocrinol Metab.

Context: Effective treatment for the ectopic ACTH secretion syndrome (EAS) remains a therapeutic challenge. Immediate curative surgery of the responsible nonpituitary tumor is often not possible. Objective: The objective of the study was to evaluate 1,ortho-1, para'-dichloro-diphenyl-dichloro-ethane (O,p'DDD) therapy in EAS. Design and Patients: Patients included 36 consecutive patients with EAS from a single center treated between 1990 and 2006. Twenty-three of these patients, including 18 ... [Abstract] [Full-text]

Articles on Addison's Disease published 8 January 2010:

Long-term safety of recombinant human growth hormone in children.   J Clin Endocrinol Metab, 95(1): 167-77.

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Adrenal Insufficiency in Newborns with Congenital Diaphragmatic Hernia.   J Pediatr.

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