Subacute Combined Degeneration of the Spinal Cord Caused by Autoimmune Gastritis

K, Ota; Yamaguchi, Ryosuke; Tsukahara, Akihiro; Nishida, Shinya; Shigekiyo, Taro; Harada, Satoshi; Kojima, Yuichi; Takeuchi, Toshihisa; Arawaka, Shigeki; Higuchi, Kazuhide

doi:10.2169/internalmedicine.4684-20

Cited by 10 publications

(5 citation statements)

References 11 publications

(11 reference statements)

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“…In the present case, although the patient was deficient in both iron and vitamin B 12 , the microcytic hypochromic anemia pattern suggests that iron deficiency anemia was predominant. Vitamin B 12 deficiency should not be overlooked because of the assumption that microcytic hypochromic anemia is simply due to iron deficiency, as chronic vitamin B 12 deficiency can cause irreversible peripheral neuropathy ( 13 ).…”

Section: Discussionmentioning

confidence: 99%

Severe Anemia Caused by Gastric Antral Vascular Ectasia and Autoimmune Gastritis

Mori

Tanaka

et al. 2022

Intern. Med.

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An 80-year-old man presented to our hospital with general fatigue on exertion that had gradually worsened over 6 months. His blood test revealed severe anemia, and gastroscopy revealed findings consistent with gastric antral vascular ectasia (GAVE) and autoimmune gastritis. We diagnosed the patient with severe anemia caused by GAVE and autoimmune gastritis. The present case suggested that GAVE is triggered by autoimmune gastritis, and the mechanism is likely related to hypergastrinemia. The reporting of this rare case may help elucidate the cause of GAVE, which is currently unknown.

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Section: Discussionmentioning

confidence: 99%

Severe Anemia Caused by Gastric Antral Vascular Ectasia and Autoimmune Gastritis

Mori

Tanaka

et al. 2022

Intern. Med.

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“…Neumann et al ( 8 ) reported that SCD with malignant anemia was common among elderly patients. Several cases of SCD combined with autoimmune diseases, including rheumatoid arthritis ( 9 ), autoimmune gastritis ( 10 ), and ulcerative colitis ( 11 ), have been reported. The findings in our cases suggested that SCD-associated malignant anemia can only manifest as atypical gastrointestinal reactions or no reaction.…”

Section: Discussionmentioning

confidence: 99%

Subacute combined degeneration of the spinal cord with concomitant autoimmune disease: report of 2 cases

Jiang

Zheng

Chen

2021

Braz J Med Biol Res

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The etiology of subacute combined degeneration (SCD) of the spinal cord is closely associated with vitamin B12 (VitB12) deficiency. The clinical manifestations of SCD are complex and vary substantially. Due to some SCD patients with atypical manifestations and concomitant autoimmune disorders, the probability of misdiagnosis and missed diagnosis is still relatively high in the early stage. We report the cases of two patients who were missed or misdiagnosed at another hospital because of the normal initial VitB12 level and partial overlap of clinical manifestations, finally diagnosed as SCD with atypical manifestations and concomitant autoimmune disorders, pharyngeal-cervical-brachial Guillain-Barre syndrome in Case 1 and SCD with autoimmune thyroiditis in Case 2. After undergoing corresponding treatment, death was reported in Case 1 and improvement in Case 2. Analysis of the clinical manifestations and investigation of the underlying pathogenesis in such patients could help improve the rate of early diagnosis and allow timely treatment of SCD, thereby preventing disease progression and poor clinical outcomes.

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“…22 Oftedal et al found out heterozygous dominantnegative mutations in the AIRE gene. 23 Genetic studies in the index case revealed single copy (heterogenous) mutations of the AIRE gene in exon location 7 (NM_000383.3 c.841G>A chr21:45709913 p.Ala281Thr), with dominant inheritance. Moreover, researchers find that monogenetic mutations causing autoimmunity are less identified than they exist in reality, and also that the penetrance of the disease is variable (30-40%), rarely reaching hundred percent even among monozygotic twins.…”

Section: Case Reportmentioning

confidence: 99%

Polyneuropathy and Gastritis in Autoimmune Polyendocrine Syndrome Type 1 in a Young Adult: Uncommon Presentation of a Rare Disease

MU¹,

MA²,

Ahmad³

et al. 2022

JSWMC

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utoimmune Polyendocrine Syndrome type1 (APS-1), sometimes called, autoimmune polyglandular syndrome type 1, and autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED), is a rare recessive disorder with diverse features that occurs due to mutations in the autoimmune regulator (AIRE) gene inducing autoimmunity. This report summarizes the diagnosis of APS 1 in a 17-year-old young man presenting with vomiting, diarrhea, and limb weakness. Investigation reveals mixed features of endocrinopathies including hypoparathyroidism, hypothyroidism, adrenal insufficiency, and hypogonadism. Although autoimmune keratitis, hepatitis, pancreatitis, pneumonitis, and nephritis are common systemic affection of this condition, the reported case presents with severe sensory-motor polyneuropathy and pangastritis. He carries a single heterozygous copy of the missense variant (NM_000383.3 c.841G>A chr21:45709913 p.Ala281Thr) in exon 7 of the AIRE.

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Subacute Combined Degeneration of the Spinal Cord Caused by Autoimmune Gastritis

Cited by 10 publications

References 11 publications

Severe Anemia Caused by Gastric Antral Vascular Ectasia and Autoimmune Gastritis

Severe Anemia Caused by Gastric Antral Vascular Ectasia and Autoimmune Gastritis

Subacute combined degeneration of the spinal cord with concomitant autoimmune disease: report of 2 cases

Polyneuropathy and Gastritis in Autoimmune Polyendocrine Syndrome Type 1 in a Young Adult: Uncommon Presentation of a Rare Disease

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