Infantile tremor syndrome associated with cobalamin therapy: A case report

Patıroğlu, Türkan; Ünal, Ekrem; Yildirim, Songul

doi:10.1016/j.clineuro.2013.05.014

Cited by 6 publications

(4 citation statements)

References 9 publications

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“…Tremor and myoclonus can be associated with vitamin B12 deficiency and may recur suddenly and worryingly after the initiation of vitamin B12 supplementation therapy. 4,[11][12][13][14][15][16] Nevertheless, the primary cause of abnormal movement that occurs after treatment is not fully known.…”

Section: Discussionmentioning

confidence: 99%

Infantile tremor syndrome secondary to peroral vitamin B12 replacement therapy: a report of two cases with myoclonus

Dilber¹,

Reis²

2021

Turk J Pediatr

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Background. Abnormal movements such as tremors and myoclonus may be observed during both treatment and deficiency of vitamin B12, particularly in infants. Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair.Case. In this report, two cases with ITS aged less than one year who had myoclonic movements during vitamin peroral B12 treatment are discussed based on hematologic, neurological, and magnetic resonance images (MRI) findings, one of whom developed a whole-body tremor and rhythmic myoclonic movements, titubation, and restlessness in the hands and feet as well as diffuse cerebral atrophy on brain MRI. Conclusion.The infants of mothers with nutritional vitamin B12 deficiency may develop sudden abnormal movements following peroral vitamin B12 therapy and that the differential diagnosis of these disorders is highly important for the prevention of long-term neurological sequela by treatment.

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Section: Discussionmentioning

confidence: 99%

Infantile tremor syndrome secondary to peroral vitamin B12 replacement therapy: a report of two cases with myoclonus

Dilber¹,

Reis²

2021

Turk J Pediatr

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“…Several cases of sudden onset movement disorders in infants coinciding with initiation of vitamin B 12 supplementation in patients with vitamin B 12 deficiency have been documented in the literature. 6,[13][14][15][16][17][18] The majority of these cases presented with movement disorders within the first 5 days following initiation of intramuscular vitamin B 12 supplementation. Reported cases are variable in severity, and nature of the movements, and resolution of the movements was usually seen within 2 to 3 weeks.…”

Section: Discussionmentioning

confidence: 99%

“…The clinical and biochemical features of both untreated cblC and nutritional vitamin B 12 deficiency are well documented, and the initial metabolic profiles of both conditions can appear similar 6 . However, while biochemical markers (homocysteine, MMA, C3, and methionine) normalize in patients with nutritional vitamin B 12 deficiency following initiation of cobalamin supplementation, they improve, but often remain abnormal in patients with cblC.…”

Section: Discussionmentioning

confidence: 99%

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

2020

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Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations. While there is no cure, combined treatment with intramuscular hydroxycobalamin and oral betaine may reduce the severity of symptoms and improve clinical outcome. We report a female patient diagnosed with late‐onset cobalamin C deficiency at the age of 8 months who presented with developmental regression and severe dermatitis. She developed a movement disorder after initiation of hydroxycobalamin treatment. Similar movement disorders have been described in patients with nutritional vitamin B12 deficiencies following cobalamin supplementation but have not previously been reported in patients with cobalamin C disorder. The movement disorder in our patient gradually resolved with clonazepam treatment, despite no seizure activity detected on EEG. She was eventually weaned off the clonazepam and the abnormal movements have not recurred. The patient remains developmentally delayed but is showing no other symptoms related to cobalamin C deficiency. The patient has a younger affected sibling who was treated from birth and who is physically and developmentally entirely normal; she did not have abnormal movements after treatment with hydroxycobalamin was initiated. There is no clear consensus on the cause of movement disorders that develop following initiation of intramuscular vitamin B12 treatment.

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“… 1 Although adults fed with a diet poor in Cbl can use their endogenous Cbl, infants fed a diet lacking Cbl can become symptomatic usually within 6 to 12 months after birth due to their limited stores. 23 Our patients were aged between 6 and 13 months. This age range is consistent with the vitamin B 12 stores depletion age range of infants reported in the literature.…”

Section: Discussionmentioning

confidence: 99%

Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis

Bıçakçı

2015

Medicine

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Vitamin B12 (cobalamin, Cbl) deficiency can cause metabolic, hematological, and neurological abnormalities. Adequate levels of succinyl-coenzyme A (CoA) cannot be synthesized from methylmalonyl-CoA because of the decreased activity of the methylmalonyl-CoA mutase enzyme that uses Cbl as the cofactor. Succinyl-CoA synthesis deficiency leads to decreased heme synthesis and gluconeogenesis. The reason of growth retardation can be gluconeogenesis deficiency together with heme synthesis deficiency whereas the reason of the neurological abnormalities can be glycine increase in the tissue due to decreased heme synthesis. We present 7 infants diagnosed with severe nutritional Cbl deficiency and discuss the role of succinyl-CoA and glycine in the possible pathogenesis in this article. Patients brought to our clinic with a complaint of growth retardation and diagnosed with nutritional Cbl deficiency were included in the study. There were 5 females and 2 males. The mean age was 11 ± 2.30 (range 6–13) months. All patients had general muscular hypotonia and 4 had growth retardation. Neuromotor growth retardation was found in 4 of the children who had previously shown normal neuromotor development for age. The mean Cbl level was 83.8 ± 27.6 (45.6–114) pg/mL. The mean Cbl level of the mothers was 155 ± 56.6 (88–258) pg/mL. Six of the patients had anemia and 1 had thrombocytopenia. Mean corpuscular volume value was 91.5 ± 12.2 fL. Following treatment, the muscle tonus of the patients improved, the anemia and growth retardation decreased, and the lost neuromotor abilities were recovered. Severe nutritional Cbl deficiency is an important nutritional disease where complications can be prevented with early treatment. When evaluating the pathogenesis, it should be noted that nutritional Cbl deficiency is a succinyl-CoA synthesis deficiency.

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Infantile tremor syndrome associated with cobalamin therapy: A case report

Cited by 6 publications

References 9 publications

Infantile tremor syndrome secondary to peroral vitamin B12 replacement therapy: a report of two cases with myoclonus

Infantile tremor syndrome secondary to peroral vitamin B12 replacement therapy: a report of two cases with myoclonus

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis

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