Clinical and neurological findings of severe vitamin <scp>B<sub>12</sub></scp> deficiency in infancy and importance of early diagnosis and treatment

Demir, Nihat; Köç, Ahmet; Üstyol, Lokman; Peker, Erdal; Abuhandan, Mahmut

doi:10.1111/jpc.12292

Cited by 65 publications

(91 citation statements)

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“…Further investigation revealed severe vitamin B12 deficiency to be the underlying cause, however. Indeed, severe B12 deficiency is well known to cause thrombocytopenia or leukopenia in addition to megaloblastic anemia [3][4][5][6] . Notably, our case presented with life-threatening anemia, having an initial Hb value of 2.6 g/dl.…”

Section: Discussionmentioning

confidence: 99%

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B12 Vitamini Eksikliğine İkincil Hemoliz Bulguları Olan Yaşamı Tehdit Eden Anemi, Trombositopeni ve Beyin Atrofisi

Keskin¹,

Kabasakal²,

İnce³

et al. 2014

Cukurova Medical Journal

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Megaloblastic anemia due to vitamin B12 deficiency is rare in infancy. It usually occurs in exclusively breast-fed infants born to vitamin B12-deficient mothers. We report a one-year-old female infant with initial diagnosis of leukemia who was found severely vitamin B12-deficient secondary to maternal deficiency. She had marked neurodevelopmental retardation, and presented with life-threatening anemia, findings of hemolysis, thrombocytopenia and cerebral atrophy on magnetic resonance imaging.

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Section: Discussionmentioning

confidence: 99%

“…Growth and neurodevelopmental retardation, hyperpigmentation, weakness, irritability, lethargy, hypotonia, hyporeflexia, convulsions and coma are among the most common findings of infantile B12 deficiency [1][2][3]9,10 . Replacement with vitamin B12…”

Section: Discussionmentioning

confidence: 99%

B12 Vitamini Eksikliğine İkincil Hemoliz Bulguları Olan Yaşamı Tehdit Eden Anemi, Trombositopeni ve Beyin Atrofisi

Keskin¹,

Kabasakal²,

İnce³

et al. 2014

Cukurova Medical Journal

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“…As the clinical findings of vitamin B12 deficiency are nonspecific, they may easily be overlooked by family physicians or paediatricians, which in turn leads to a delay in the diagnosis and more severe clinical manifestations. The most common clinical signs were irritability, apathy, hypotonia, motor retardation, decrease in deep tendon reflexes, encephalopathy, coma and microcephaly (1,2) . On the first day of the hospitalization, tonic contraction was observed for a few seconds.…”

Section: Introductionmentioning

confidence: 99%

“…The most common cause of vitamin B12 insufficiency is insufficient intake of the vitamin in the diet. However, lack of intrinsic factor, Imerslund-Grasbeck syndrome, ileal and gastric surgical interventions and infections with Diphyllobothrium latum may also lead to vitamin B12 deficiency (1) . In babies exclusively fed with breast milk, the most common cause of vitamin B12 deficiency is insufficient intake from vegetarian mothers or mothers with pernicious anaemia.…”

Section: Introductionmentioning

confidence: 99%

The Infant with B12 deficiency

Karabayır¹,

Arı²,

Dilaver³

2017

Cocuk Dergisi

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A 2-month-old male infant was admitted to the emergency clinic with complaints of loss of consciousness. The conscious and hypotonic baby had no good eye contact. In the laboratory tests of the infants who had no symptoms other than hypotonia on physical examination, WBC: 7130/mm 3 , RBC: 3.17 10e6/µL, hgb: 10.6 g/dL, hct: 29.9, MCV: 94.3, MCH: 33.4, PLT: 480.103/ml, blood sugar: 108 mg/dl, Ca: 10,2 mg/dl, Mg: 2,1 mg/dl Na: 136 mEq/l, K: 3,7 mEq/l, AST: 28 IU, ALT: 32 IU, ammonia: 55.8 PFO saptanırken, holter EKG özellik saptanmadı. B12 düzeyi 219.9 pg/dl, Anemi, B12 vitamini, konvülziyon Çocuk Dergisi 2017; 17(3):136-138

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“…There is only one case of postural and kinetic tremor due to vitamin B12 deficit reported in the last 13 years [4] and, like in our patient, it was quickly resolved after correction of this deficit. The tremor is a characteristic symptom of vitamin B12 deficiency in children, but not known in adults [7,8]. The vitamin B12 deficiency should be added to the list of diseases that can cause writing tremor.…”

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confidence: 99%

Writing Tremor as a Manifestation of Vitamin B12 Deficiency

Guijarro-Castro¹,

Estallo-Guijarro²

2017

Arch Med

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Postural and kinetic tremor due to vitamin B12 deficit is rare in adults, but secondary writing tremor due this deficit is more unusual. We report the case of a writing tremor patient that was resolved after cyanocobalamin treatment. An 80-year-old man presented with a three-month history of trembling on his right hand, only becoming apparent when writing. He suffered from hypertension and diabetes, had no familial history recorded, and did not take dopaminergic-block drugs. Neurologic examination showed a fine, rapid tremor of the hands that began immediately after the patient began to write. Results of the rest of the examination were normal. Results of laboratory tests were normal, except for a serum vitamin B12 level of 132 ng per liter (normal range, 222 ng/l to 753 ng/l). A Schilling test demonstrated malabsorption of vitamin B12. A magnetic resonance image of the brain was normal. Surface electromyogram showed a 7 Hz synchronous tremor of the flexor and extensor muscles of the forearm that began when the patient was writing and was absent in other actions. Electrophysiological studies also showed mild sensory axonal polyneuropathy. Clonazepam (1 mg per day) and cyanocobalamin (injections of 1000 µg given daily for two weeks, then weekly for two months, and once a month thereafter) provided complete relief of the tremor. Follow-up after one year showed no abnormalities. Then, treatment with clonazepam was discontinued, without recurrence of the tremor. Task-specific tremor is a form of action tremor that occurs when a person is performing a specific task [1]. The most frequent form of task-specific tremor is writing tremor (WT). The pathophysiology of WT is not clear and could be a variant of essential tremor or a type of focal dystonia or an independent entity [2]. However, the results in cortical inhibition during taskspecific contractions indicate that WT is not a variant of focal task-specific dystonia, but rather an independent entity [3]. WT typically occurs at a frequency of 5 Hz to 7 Hz. The writing tremor may progress to another task specific tremor of specific action, or rest tremor, but not to postural tremor. Tremor temporary suppression by alcohol is observed in about one-third of the cases, and beneficial responses to propranolol, primidone, anticholinergics, botulinum toxin treatment, and stereotactic surgery has been reported [2].Although the association of tremor in adults with vitamin B12 deficiency is very rare [4,5], the patient's tremor disappeared after vitamin B12 supplements, which supports this association. Hyperactivity in the cerebellar hemispheres have been demonstrated with positron emission tomography in PWT, and it is known that these structures may be affected by vitamin B12 deficiency [6]. There is only one case of postural and kinetic tremor due to vitamin B12 deficit reported in the last 13 years [4] and, like in our patient, it was quickly resolved after correction of this deficit. The tremor is a characteristic symptom of vitamin B12 deficiency in children, but not know...

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Clinical and neurological findings of severe vitamin B₁₂ deficiency in infancy and importance of early diagnosis and treatment

Abstract: As a delay in the diagnosis causes irreversible neurological damage, early diagnosis and treatment is highly important.

Cited by 65 publications

References 22 publications

B12 Vitamini Eksikliğine İkincil Hemoliz Bulguları Olan Yaşamı Tehdit Eden Anemi, Trombositopeni ve Beyin Atrofisi

B12 Vitamini Eksikliğine İkincil Hemoliz Bulguları Olan Yaşamı Tehdit Eden Anemi, Trombositopeni ve Beyin Atrofisi

The Infant with B12 deficiency

Writing Tremor as a Manifestation of Vitamin B12 Deficiency

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Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment

Abstract: As a delay in the diagnosis causes irreversible neurological damage, early diagnosis and treatment is highly important.

Cited by 65 publications

References 22 publications

B12 Vitamini Eksikliğine İkincil Hemoliz Bulguları Olan Yaşamı Tehdit Eden Anemi, Trombositopeni ve Beyin Atrofisi

B12 Vitamini Eksikliğine İkincil Hemoliz Bulguları Olan Yaşamı Tehdit Eden Anemi, Trombositopeni ve Beyin Atrofisi

The Infant with B12 deficiency

Writing Tremor as a Manifestation of Vitamin B12 Deficiency

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Clinical and neurological findings of severe vitamin B₁₂ deficiency in infancy and importance of early diagnosis and treatment