Cranial Magnetic Resonance Imaging Findings in Hypotonic Infants with Cobalamin Deficiency and Combined Methylmalonic Aciduria and Homocystinuria

Abstract

Vitamin B12 begins to accumulate in infants within the first six months while mothers often remain asymptomatic and infantile vitamin B12 deficiency may not be noticed until the onset of neurological effects. In infants with Cbl deficiency, long-term exposure to elevated methylmalonic acid and homocysteine (MMA-HC) may have toxic effects on the central nervous system. The aim of this study was to evaluate cranial magnetic resonance (MRI) findings of 23 hypotonic infants that were followed up with a diagnosis of nutritional Cbl deficiency and combined MMA-HC. Of the 78 infants that presented with hypotonicity, 23 (29.4%) infants were detected with vitamin B12 deficiency. Elevated MMA-HC levels were detected in all patients (100%). Cranial MRI showed cortical atrophy in 6 (26.0%)-large sylvian fissures in 7 (30.4%)-ventricular dilatation in 5 (21.7%)-corpuscallosal thinning in 6 (26.0%)-delayed myelination in 3 (13%), and normal in 8 (34.7%) infants.Infants detected with corpus callosal thinning and cortical atrophy on MRI. Vitamin B12 deficiency is a treatable condition, it should be suspected in infants presenting with hypotonicity. Neuroradiological findings should be considered in the diagnosis of such patients. İnfantile nutritional vitamin B12 deficiency, which can be a source of persistent neurological deficits during the long term, should be treated to allow the patient to allow healthy neuro-development for infants. Maternal and fetal vitamin B12 levels should be assessed during the third trimester of pregnancy to prevent long-term exposure to infantile vitamin B12 deficiency.

Zusammenfassung

Vitamin B12 beginnt sich bei Säuglingen innerhalb der ersten sechs Monate anzureichern, während die Mütter oft asymptomatisch bleiben und ein infantiler Vitamin-B12-Mangel möglicherweise erst beim Auftreten neurologischer Effekte bemerkt wird.Bei Säuglingen mit Cbl-Mangel kann eine langfristige Exposition gegenüber erhöhter Methylmalonsäure und Homocystein toxische Auswirkungen auf das zentrale Nervensystem haben. Ziel dieser Studie war es, die kranialen Magnetresonanz-Befunde von 23 hypotonen Säuglingen auszuwerten, die mit der Diagnose eines ernährungsbedingten Cbl-Mangels und kombiniertem MMS-HC nachuntersucht wurden. Von den 78 Säuglingen, die sich mit Hypotonie vorstellten, wurde bei 23 (29,4%) Säuglingen ein Vitamin B12-Mangel festgestellt. Erhöhte MMS-HC-Werte wurden bei allen Patienten (100%) nachgewiesen. Die kraniale MRT zeigte eine kortikale Atrophie bei 6 (26,0%)-vergrößerte Sylvische Fissuren bei 7 (30,4%)-eine ventrikuläre Dilatation bei 5 (21,7%)-eine korpus kallosale Ausdünnung bei 6 (26,0%)-eine verzögerte Myelinisierung bei 3 (13%)-normale Werte bei 8 (34,7%) Säuglingen. Bei denen im MRT eine Ausdünnung des corpus callosums und eine kortikale Atrophie festgestellt wurde. Vitamin B12-Mangel ist eine behandelbare Erkrankung, die bei Säuglingen mit Hypotonie. Neuroradiologische Befunde sollten bei der Diagnose solcher Patienten berücksichtigt werden. Infantiler ernährungsbedingter Vitamin B12-Mangel, der langfristig eine Ursache für persistierende neurologische Defizite sein kann, sollte behandelt werden, um dem Patienten/Säugling eine gesunde Neuro-Entwicklungzu ermöglichen. Der mütterliche und fetale Vitamin B12 sollte während des dritten Trimesters der Schwangerschaft bestimmt werden, um eine langfristige Gefährdung durch einen infantilen Vitamin B12-Mangel zu verhindern

Key words

Cranial magnetic resonance imaging - hypotonic infants - methylmalonicaciduria - homocystinuria - cobalamin

Schlüsselwörter

Kraniale Magnetresonanztomographie - hypotonische Säuglinge - Methylmalonicacidurie - Homocystinurie - Cobalamin

Publication History

Article published online:
24 February 2022

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