Kirsten Glaser1, Hermann J Girschick2, Christian Schropp3, Christian P Speer4. 1. University Children's Hospital, University of Wuerzburg, Germany. Electronic address: Glaser_K@ukw.de. 2. Children's Hospital, Vivantes Klinikum am Friedrichshain, Berlin, Germany. 3. Children's Hospital Dritter Orden, Passau, Germany. 4. University Children's Hospital, University of Wuerzburg, Germany.
Abstract
BACKGROUND: Severe infantile vitamin B12 deficiency is occasionally reported in developed countries due to maternal nutritional deficiency. The clinical manifestation comprises megaloblastic anemia and neurodevelopmental delay culminating in demyelination and brain atrophy. Few case reports have documented manifestation of West syndrome. PATIENT: We report the 8-year long-term follow-up on a 6-month-old exclusively breast-fed girl with serious vitamin B12 deficiency secondary to undiagnosed maternal pernicious anemia. MRI revealed cerebral atrophy and delayed myelination. Strikingly, initial vitamin B12-mediated improvement of neurological and hematological findings was followed by temporary manifestation of infantile spasms requiring anticonvulsive therapy. RESULTS: Seizures soon dissolved, EEG and MRI scan normalized and developmental catch-up occurred. At the age of 8 years, the girl is symptom-free and visits primary school illustrating remarkable recovery of severe neurodevelopmental delay and symptomatic West syndrome. CONCLUSION: Infantile vitamin B12 deficiency has to be considered in the differential diagnosis of mental retardation and infantile spasms, especially if maternal nutritional deficiency might be suspected. Early treatment seems to be crucial for the prevention of irreversible brain damage.
BACKGROUND: Severe infantile vitamin B12 deficiency is occasionally reported in developed countries due to maternal nutritional deficiency. The clinical manifestation comprises megaloblastic anemia and neurodevelopmental delay culminating in demyelination and brain atrophy. Few case reports have documented manifestation of West syndrome. PATIENT: We report the 8-year long-term follow-up on a 6-month-old exclusively breast-fed girl with serious vitamin B12 deficiency secondary to undiagnosed maternal pernicious anemia. MRI revealed cerebral atrophy and delayed myelination. Strikingly, initial vitamin B12-mediated improvement of neurological and hematological findings was followed by temporary manifestation of infantile spasms requiring anticonvulsive therapy. RESULTS: Seizures soon dissolved, EEG and MRI scan normalized and developmental catch-up occurred. At the age of 8 years, the girl is symptom-free and visits primary school illustrating remarkable recovery of severe neurodevelopmental delay and symptomatic West syndrome. CONCLUSION: Infantile vitamin B12 deficiency has to be considered in the differential diagnosis of mental retardation and infantile spasms, especially if maternal nutritional deficiency might be suspected. Early treatment seems to be crucial for the prevention of irreversible brain damage.
Authors: Mustafa Calik; Mehmet Salih Aktas; Emre Cecen; Ibrahim Etem Piskin; Hamza Ayaydın; Zuhal Ornek; Meryem Karaca; Abdullah Solmaz; Halil Ay Journal: Neurol Sci Date: 2018-03-08 Impact factor: 3.307