A child with Imerslund-Gräsbeck syndrome concealed by co‐existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report

Arunath, Visvalingam; Hoole, Thabitha Jebaseeli; Rathnasri, Asanka; Muthukumarana, Oshanie; Kumarasiri, Ishara; Liyanage, Nishadi Dananjani; Costa, Y. J.; Mettananda, Sachith

doi:10.1186/s12887-021-02499-1

Cited by 3 publications

(1 citation statement)

References 9 publications

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“…In total, 111 articles were included [ 2 , 3 , 5 , 7 – 108 ]. 22 additional articles were not accessible.…”

Section: Resultsmentioning

confidence: 99%

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Kingma,

Neven,

Bael

et al. 2023

Orphanet J Rare Dis

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Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and proteinuria. Patients may if untreated, develop severe neurocognitive manifestations. If recognized and treated with sufficient doses of vitamin B12, patients recover completely. We provide, for the first time, an overview of all previously reported cases of IGS. In addition, we provide a complete review of IGS and describe two new patients.

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“…In total, 111 articles were included [ 2 , 3 , 5 , 7 – 108 ]. 22 additional articles were not accessible.…”

Section: Resultsmentioning

confidence: 99%

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Kingma,

Neven,

Bael

et al. 2023

Orphanet J Rare Dis

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Co-existence of autoimmune polyglandular syndrome type 3b and undifferentiated connective tissue disease with subacute combined degeneration of spinal cord in children: a case report and literature review

Lang,

Huang,

Gao

et al. 2024

BMC Pediatr

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Background The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Notably, some SCD patients may be complicated with autoimmune diseases, leading to high early misdiagnosis and missed diagnosis rates. Case presentation In this study, a case involving an adolescent female with repetitive severe anemia, multiple joint swelling and pain in the left limbs, and paralysis of the bilateral lower limbs with serum vitamin B12 deficiency, polyglandular involvement, and various positive auto-antibodies (anti‑intrinsic factor antibody, anti‑parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti‑neutrophil cytoplasmic antibody) is reported. The patient was diagnosed with SCD co-existing with autoimmune polyglandular syndrome type 3b (APS 3b) and undifferentiated connective tissue disease (UCTD) based on the symptoms and laboratory tests. However, treatment with high-dose intravenous methylprednisolone pulses, intravenous immunoglobulin, oral naproxen (changed to hydroxychloroquine after 2 weeks), vitamin B12, levothyroxine sodium tablets supplementation, blood transfusion, and rehabilitation significantly improved the patient’s condition. Conclusion Co-existence of APS 3b, UCTD, and SCD is rare in children with significantly different clinical manifestations. Nonetheless, early diagnosis and timely treatment of SCD are crucial for improving patient outcomes. Supplementary Information The online version contains supplementary material available at 10.1186/s12887-024-05262-4.

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Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos

Rodríguez

Lozano

Triana

et al. 2022

CES Med

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Introducción: el Síndrome de Imerslund-Gränsbeck es un trastorno congénito inusual que cursa con disminución de la Vitamina B12, anemia megaloblástica y proteinuria sin afección renal que cual se produce por una mutación de los cromosomas 10 y 14, que condicionan un defecto en el receptor del complejo vitamina B12-factor intrínseco del enterocito ileal. Fue descrita por Olga Imerslund y Armas Gransbeck. Objetivo: caracterizar a la población que ha padecido el Síndrome de Imerslund-Gränsbeck. Metodología: revisión sistemática de la literatura de casos clínicos. Resultados: se incluyeron 68 casos, en la mayoría de los casos el diagnostico en los primeros 10 años de vida, en el que se evidenció una mayor frecuencia en mujeres, y se encontró asociado con antecedentes familiares como consanguinidad entre padres (14,6%). La manifestación más frecuente fue palidez (20,9%), seguido de vomito (10,5%) y anorexia (9,8%). La anemia megaloblástica (66,2%) fue el hallazgo más frecuente y el tratamiento se dio con cianocobalamina (intramuscular u oral) para regular las concentraciones plasmáticas de esta vitamina. Conclusión: el Síndrome de Imerslund Gränsbeck tiene una baja prevalencia y se presenta con mayor frecuencia en el continente europeo, tiene predilección por el sexo femenino y se caracteriza por una disminución de la vitamina B12 que pueden que puede predisponer a otras alteraciones como ataxia y retraso en el crecimiento.

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A child with Imerslund-Gräsbeck syndrome concealed by co‐existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report

Cited by 3 publications

References 9 publications

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases

Co-existence of autoimmune polyglandular syndrome type 3b and undifferentiated connective tissue disease with subacute combined degeneration of spinal cord in children: a case report and literature review

Síndrome de Imerslund-Gränsbeck: revisión sistemática de casos clínicos

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