Subacute Combined Degeneration of the Spinal Cord in an Adolescent Girl

Abstract

Subacute combined degeneration of the spinal cord (SACD), a condition resulting from vitamin B12 deficiency, generally affects elderly people. We present a 12-year-old girl, who, despite a non-vegetarian diet and no obvious etiological factors, developed SACD.

Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children

“…A lack of MeCbl increases homocysteine levels, which in turn, decreases methionine levels and results in megaloblastic anemia. [3] The pathogenesis of SCD is still unclear. Defective transmethylation of myelin is known as the direct cause of SCD, also referred to as SCD due to a dysfunction of the methyl-transfer pathway.…”

“…We searched for the keywords “Subacute combined degeneration” and “child” in all fields in PubMed; since the establishment of the library to 2019–3, there were only 33 articles; excluding those without detailed records, with inconsistent content, and review of literature, 11 articles with 20 cases were obtained (including our 2 cases, Table 1). [3–13] Of the 20 cases, 2 patients were vegans, 2 cases were caused by chemotherapeutics, and 1 case was of early-onset CblC disorder, which was identified by routine newborn urine screening. Further, 2 cases were due to vitamin B12 metabolism diseases, 5,10-methylenetetrahydrofolate reductase deficiency, and Grasbeck–Imerslund syndrome.…”

Skin Hyperpigmentation as the Presenting Symptom of Subacute Combined Degeneration of the Spinal Cord

“…Two cases of vitamin B12 deficiency which presented initially with darkening of palms and soles were reported in the literature [5, 6]. However, the presence of hyperpigmentation in a diagnosed case of SCD is rarely mentioned, and it was in a pediatric age group [1, 2]. The causes of SCD were due to dietary lacking and unclear etiology, respectively.…”

“…It is characterized by degenerative process involving posterior and lateral columns of the spinal cord and presents usually with paresthesia in the toes, fingers, or both [1]. …”

“…Hyperpigmentation represents the most common associated dermatological finding in vitamin B12 deficiency, although its presence in SCD has only been reported in a very few cases in the literature [1–3]. …”