55 Regression of milestones in an infant as presenting feature of Maternal Pernicious anaemia

Abstract

<h3>Background</h3> Children presenting with regression of milestones is not uncommon in the Paediatric population. One should be aware of wide range of differential diagnosis including neuro metabolic causes In our case, methylmalonic aciduria as a part was metabolic screening was noted leading to diagnosis of vitamin B12 deficiency in the infant and pernicious anaemia in mother. <h3>Case Presentation</h3> We report the case of a 6-month-old female patient presenting with a history of suspected seizures in the form of abnormal upper limb movements, staring episodes with background history of developmental delay and regression of milestones over last few months. There were no infection concerns. Birth history was normal and she was exclusively breastfed. She was well until four months of age when she presented with what sounded like shuddering episodes but had a normal examination that time. On examination, she was hypo-reflexic and had poor grasp. Her tone was normal. She did not have any neurocutaneous markers. Our initial impression was of afebrile seizure likely infantile spasms. <h3>Investigation</h3> Blood investigation revealed macrocytic anaemia. Her renal, liver and thyroid function were normal. Serum ammonia and lactate were normal. An EEG and MRI brain were normal. Although we could not get Serum Amino acids results due to sampling error, her urine organic acid analysis revealed excessive excretion of Methyl malonic acid prompting further evaluation. Her B12 levels were noted to be significantly low, i.e. &lt;101 pg/ml (197-771) with normal folate levels With a history of exclusive breastfeeding, her mother was also investigated and found to have anti-parietal cell antibodies confirming underlying pernicious anaemia. Patient had good recovery with normalisation of urine organic acid profile after treatment with injectable hydroxocobalmin. <h3>Discussion</h3> Developmental delay is a common presentation in paediatric setting. Choo et al mentions prevalence up-to 15% amongst preschool children. One should take through history and undertake comprehensive examination for narrowing down wide spectrum of differential diagnosis. Global developmental delay, regression of milestone, presence of abnormal neurological examination are some of the red alarm signs which mandates further evaluation including neuroimaging and baseline metabolic work up. In our case, methylmalonic aciduria lead us to diagnosis of nutritional vitamin B12 deficiency reemphasising importance of metabolic work up in these clinical presentations. Some studies like Hoznik et el mentions methylmalonic aciduria as most sensitive marker for Vitamin B12 deficiency. <h3>Conclusion</h3> Vitamin B12 deficiency should be considered as an important differential while evaluating infants with developmental delay