7-year-old boy with adrenoleukodystrophy is presented with the typical clinical picture, biochemical findings and review of the literature. The obligate carrier status of the mother and the asymptomatic adrenoleukodystrophy of the 5-year-old brother are biochemically proved. Therapeutic regime of Lorenzo's oil has been introduced to the young brother, and the question of bone marrow transplantation is discussed.
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Cerebral adrenoleukodystrophy presenting as status epilepticus: Unveiling the neurological maze.
Radiol Case Rep
January 2025
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, India.
Article Synopsis
- A 7-year-old boy presented with severe seizures and neurological decline, initially showing symptoms like visual changes and cognitive deterioration over six months.
- MRI scans indicated white matter lesions and elevated serum levels of certain fatty acids, leading to a provisional diagnosis of X-linked cerebral adrenoleukodystrophy (ALD).
- Despite treatment, the patient's condition worsened to blindness and a vegetative state, underscoring the need for early diagnosis and intervention to manage ALD more effectively.
X-linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation.
Exp Ther Med
September 2022
Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R. China.
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is caused by defects in the ATP-binding cassette subfamily D member 1 (ABCD1) gene, resulting in impaired peroxisomal β-oxidation of very-long-chain fatty acids (VLCFAs). As an X-linked recessive disease, female X-ALD carriers are typically asymptomatic.
View Article and Find Full Text PDF[X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation].
Andes Pediatr
August 2021
Universidad Militar Nueva Granada, Bogotá, Colombia.
Introduction: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease due to a mutation in the ABCD1 gene that leads to the accumulation of very-long-chain fatty acids in tissues.
Objective: To describe one patient with severe childhood cerebral X-ALD and to analyze his diagnostic process and the rapeutic possibilities.
Clinical Case: 7-year-old male child, with a six-month history of decreased visual acuity, learning difficulties due to lack of attention, reading and writing impairment, and social isolation.
X-linked adrenoleukodystrophy presenting as attention deficit hyperactivity disorder.
Indian J Psychiatry
June 2015
Department of Psychiatry, Sree Balaji Medical College and Hospital, Chromepet, Chennai, Tamil Nadu, India.
X-linked adrenoleukodystrophy (X-ALD) is one the leukodystrophies causing a progressive decline in neurological function mainly affecting the children. The most common symptoms are changes in behavior, including social withdrawal or aggression, poor memory or poor scholastic performance. Here, we present a 7-year-old boy who presented with symptoms of inattention and hyperactivity and later turned out to be a case of X-ALD.
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