Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases
| العنوان: | Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases |
|---|---|
| المؤلفون: | Matteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo |
| المساهمون: | Foschi, Matteo, Vacchiano, Veria, Avoni, Patrizia, Incensi, Alex, Battaglia, Stella, Donadio, Vincenzo, Panzeri, Elena, Bassi, Maria Teresa, Liguori, Rocco, Rizzo, Giovanni |
| المصدر: | Frontiers in Neurology Frontiers in Neurology, Vol 10 (2019) |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pathology, medicine.medical_specialty, adrenomyelopathy, small fiber neuropathy, Case Report, lcsh:RC346-429, 03 medical and health sciences, Myelopathy, 0302 clinical medicine, medicine, 030212 general & internal medicine, Adrenocortical Insufficiency, brain development defects, skin biopsy, lcsh:Neurology. Diseases of the nervous system, Subclinical infection, medicine.diagnostic_test, adrenoleukodystrophy, business.industry, Genetic disorder, ABCD1, brain development defect, MRI, very long chain fatty acids, medicine.disease, Neurology, Skin biopsy, Nerve conduction study, Adrenoleukodystrophy, Neurology (clinical), business, Asymptomatic carrier, 030217 neurology & neurosurgery |
| الوصف: | X-linked adrenoleukodystrophy (x-ALD) is a rare genetic disorder caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid transporter. Clinically, x-ALD can present a wide spectrum of different phenotypes: asymptomatic carriers, Addison only, cerebral x-ALD, and myelopathy with/without evidence of peripheral axonopathy (Adrenomyeloneuropathy). We report on two cases of adult x-ALD, with atypical phenotypes: (Case 1) A 37-years-old male with a 2-years-long history of spastic paraparesis, urinary urgency, and subclinical adrenocortical insufficiency. As an atypical finding, the MRI showed multiple congenital brain development defects. (Case 2) A 63-years-old male with a previous diagnosis of Addison disease, with a 6-years-long history of spastic paraparesis. Two years later, he complained of severe and disabling burning pain in his feet. A nerve conduction study was normal, but a skin biopsy revealed autonomic and somatic small fiber neuropathy. In both cases, genetic testing disclosed hemizygous mutation in ABCD1 associated with x-ALD: c.1394-2A > G and p.(Thr254Met), respectively. While case 1 supports the key role of peroxisome functions in brain development, case 2 points to a possible selective and clinically relevant peripheral small fiber degeneration in x-ALD myelopathy. |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c3bfa7d7e4cd0113ac21780491dffa6Test http://hdl.handle.net/11585/687043Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....5c3bfa7d7e4cd0113ac21780491dffa6 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |