Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review

Abstract

Rationale: Subacute combined degeneration (SCD) is a disease caused by decreased vitamin B12 intake or metabolic disorders. It is more common in the elderly and rarely seen in children. Here, we report 2 pediatric cases of SCD in late-onset cobalamin C (CblC) deficiency.

Patient concerns: The patients complained of unsteady gait. Their physical examination showed sensory ataxia. Magnetic resonance imaging showed classic manifestations of SCD. The serum vitamin B12 level was normal, but urine methylmalonic acid and serum homocysteine levels were high.

Diagnosis: The pathogenic gene was confirmed as MMACHC. The 2 patients each had 2 pathogenic mutations C.482 G>A and C.271dupA and C.365A>T and C.609G>A in this gene. They were diagnosed with combined methylmalonic acidemia and homocysteinemia-CblC subtype.

Interventions: The patients were treated with methylcobalamin 500 μg intravenous injection daily after being admitted. After the diagnosis, levocarnitine, betaine, and vitamin B12 were added to the treatment.

Outcomes: Twelve days after treatment, the boy could walk normally, and his tendon reflex and sense of position returned to normal. The abnormal gait seemed to have become permanent in the girl and she walked with her legs raised higher than normal.

Lessons: To the best of our knowledge, this is the first report of 2 cases of isolated SCD in children with late-onset CblC disorder. Doctors should consider that SCD could be an isolated symptom of CblC disorder. The earlier the treatment, the lower the likelihood of sequelae.

Figure 1

MRI findings of the patient. (A) The enlargement of the cerebral groove in the skull MRI. (B) The axial position of the thoracic segment shows the hyperintense T2W1 signals in the posterior columns, presenting an inverted “V” sign. MRI = magnetic resonance imaging. T2W1 = T2 weighted image.

Figure 2

Mutations detected in the MMACHC gene test in second patient. (A) Patient c.365A>T, (B) patient c.609G>A, (C) sister c.365A>T, (D) sister c.609G>A, (E) father c.365A>T, (F) no mutation in father, (G) no mutation in mother, (H) mother c.609G>A.