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3.
BMJ Case Rep ; 20132013 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-24081591

RESUMO

A 23-year-old man presented with weakness in the lower limbs, numbness in hands and feet over past 6 months. Examination revealed a combination of absent ankle jerk, extensor plantar response and reduced sensations in a glove and stocking distribution. MRI of the spinal cord was distinctive of subacute combined degeneration (SACD) of the spinal cord. Serum vitamin B12 was low and anti-intrinsic factor antibodies were positive. A biopsy of the stomach revealed intense inflammatory infiltrates in lamina propria with grade III Helicobacter pylori infection. Other work-up for the cause of vitamin B12 deficiency was unremarkable. H pylori infection triggers autoantibodies by a mechanism of molecular mimicry. This case report highlights H pylori as a causative agent in vitamin B12 deficiency and culminating in SACD of the spinal cord. H pylori treatment reverses the underlying pathogenesis and corrects vitamin B12 deficient state in selected individuals.


Assuntos
Anemia Perniciosa/etiologia , Mucosa Gástrica/microbiologia , Infecções por Helicobacter/complicações , Helicobacter pylori/isolamento & purificação , Degeneração Combinada Subaguda/etiologia , Deficiência de Vitamina B 12/etiologia , Anemia Perniciosa/diagnóstico , Biópsia , Diagnóstico Diferencial , Seguimentos , Infecções por Helicobacter/diagnóstico , Infecções por Helicobacter/microbiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Degeneração Combinada Subaguda/diagnóstico , Deficiência de Vitamina B 12/diagnóstico , Adulto Jovem
4.
J Clin Diagn Res ; 7(7): 1450-2, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23998090

RESUMO

Pachydermoperiostosis is a rare hereditary disorder that is characterised by pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of the periarticular tissue and a subperiosteal new bone formation). Other associated features are arthralgia, polyarthritis, clubbing, seborrhoea, hyperhidrosis, hypertrophic gastropathy, peptic ulcer and gyanecomastia. Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common association. We are hereby reporting a patient with a complete form of Pachydermoperiostosis, wherein the presenting feature was bilateral ptosis.

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