[…] vision and hearing when adults present with cerebral involvement presentation is often neuropsychiatric prior to other manifestations (ataxia, seizures, dementia) 15 adrenomyeloneuropathy (35-40%) most common adult presentation progressive paraparesis [radiopaedia.org]

He presents language disturbances namely echolalia. Eye contact and visual acuity remains normal and bilateral grasping and sucking are present. Epilepsy is controlled with three antiepileptic drugs. The family was referred for genetic counseling. [scielo.mec.pt]

It may more rarely present as the initial manifestation of X-ALD in adolescent (<7%) or adult (<5%) males. [orpha.net]

The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment. [read.qxmd.com]

[…] oxidation of very long chain fatty acids occurs within the perosixome with its consequent accumulation in different tissues leading to mainly neurological and endocrinological manifestations; there is a phenotypic variability according to the age of presentation [scielo.org.co]

• Inflammation

  The affected cerebral white matter is typically split into three different zones (also referred to as Schaumberg zones 3, 2, and 1, respectively): central (inner) zone: irreversible gliosis and scarring intermediate zone: active inflammation and breakdown [radiopaedia.org]

  Right frontal periventricular white matter involvement displayed a three-layered pattern with an internal zone of high diffusibility and an intermediate rim of reduced diffusion, depicting ongoing inflammation/demyelination. [scielo.mec.pt]

• Epilepsy

  Epilepsy is controlled with three antiepileptic drugs. The family was referred for genetic counseling. [scielo.mec.pt]

• Disability

  In the present case, one year before the diagnosis, learning disabilities and behavior problems were indeed observed, reflecting the early predominant involvement of the frontal lobe. [scielo.mec.pt]

Discussion/Conclusion: Early diagnosis and treatment of this rare condition is very important as it can change the disease course. [scielo.mec.pt]

Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis... [read.qxmd.com]

Vein Center Learn about the Excela Advanced Vein Center with our board-certified vascular surgeons who specialize in minimally invasive, targeted treatments, and more. [excelahealth.org]

Treatment and prognosis Bone marrow transplantation is thought to be favorable in the early stages of the disease. Restriction of VLCFAs has also been trialled. Steroid replacement can be used in patients with adrenocortical insufficiency. [radiopaedia.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment and prognosis Bone marrow transplantation is thought to be favorable in the early stages of the disease. Restriction of VLCFAs has also been trialled. Steroid replacement can be used in patients with adrenocortical insufficiency. [radiopaedia.org]

Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis... [read.qxmd.com]

In this case report, although questionable, given the lack of therapeutic options and the expected poor prognosis, a therapeutic trial was carried out being only interrupted one year later due to development of moderate thrombocytopenia. [scielo.mec.pt]

Etiology X-ALD is caused by mutations of ABCD1 (Xq28). More than 1,200 different mutations in the gene have been reported. No direct correlation has been made between the different mutations and phenotype. [orpha.net]

Summary Epidemiology X-ALD is the most common peroxisomal disorder with an estimated birth incidence is 1/20,000 (male and female). It has been reported throughout the world. [orpha.net]

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta. 2012 Sep;1822(9):1465-74. [maladiesrares-paris-saclay.aphp.fr]

The present review is intended to describe the current knowledge of the pathophysiology of ALD and provide an update regarding newborn screening, diagnosis, monitoring, and treatment. [read.qxmd.com]

Concussion Care Excela Health's Concussion Clinic has a double-sided objective of providing education to prevent concussion and using the latest techniques to treat and evaluate recovery. [excelahealth.org]

We aim, in this report, to highlight the importance of an earlier diagnosis of this rare disease, not only due to its severe morbidity and mortality, but also because early treatment of this disorder can prevent its neurological progression. [scielo.mec.pt]