|Year : 2022 | Volume
| Issue : 4 | Page : 285-287
A treatable cause of neuroregression
Accurate Mercy1, Sophy Korula2
1 Pediatrician, Leprosy Mission Hospital, Faizabad, Uttar Pradesh, India
2 Pediatrician, Paediatric Unit-1, Christian Medical College and Hospital, Vellore, Tamil Nadu, India
|Date of Submission||30-Mar-2022|
|Date of Decision||16-Apr-2022|
|Date of Acceptance||30-Apr-2022|
|Date of Web Publication||17-Mar-2023|
Paediatric Unit-1, Christian Medical College and Hospital, ISSCC Building, 5th Floor, Vellore - 632 004, Tamil Nadu
Source of Support: None, Conflict of Interest: None
We report the case of a 13-month-old girl with neuroregression over 3 months and encephalopathy at presentation. Marked skin hyperpigmentation and being exclusively breastfed gave the clue to B12 deficiency secondary to maternal B12 deficiency as the possible etiology which was confirmed on investigation. Upon treatment with parenteral B12 therapy she demonstrated dramatic improvement at follow-up. Nutritional B12 deficiency is an imminently treatable cause of neurocognitive dysfunction. Better awareness, healthy complementary feeding practices in infancy and perhaps maternal B12 supplementation can help prevent this disorder.
Keywords: B12 deficiency, infantile B12 deficiency, maternal B12 deficiency, neuroregression
|How to cite this article:|
Mercy A, Korula S. A treatable cause of neuroregression. CHRISMED J Health Res 2022;9:285-7
| Introduction|| |
Infants and young children presenting with neurodevelopmental symptoms should be carefully evaluated for treatable nutritional etiologies. Exclusively breastfed infants can present with B12 deficiency causing severe neurological abnormalities. This case highlights the importance of suspecting, diagnosing, and treating a 13-month-old girl with B12 deficiency secondary to maternal B12 deficiency who presented with neuroregression and encephalopathy.
| Case Report|| |
A 13-month-old girl was brought to the outpatient service with concerns of progressive generalized hyperpigmentation of 3-month duration. The parents also complained of regression of previously attained milestones with currently being able to sit only when made to sit and reach out for objects. She was also noted to be lethargic and not interactive as earlier.
She is the 2nd born to nonconsanguineous parents by normal delivery with a birth weight of 3 Kg and had no neonatal concerns. Her development till 8 months of age had been normal. She was exclusively breastfed till presentation. On examination, she was lethargic and not interested in toys. She had a feeble cry and obvious generalized hyperpigmentation [Figure 1]. Her weight was 6.0 Kg (below 3rd centile) and length 63 cm (below 3rd centile), and her head circumference was 41 cm. Cranial nerve examination was normal. She had generalized hypotonia and deep tendon reflexes could not be elicited. Her investigations revealed macrocytic anemia with hemoglobin of 7.3 g% (mean: 12 g/dl) and mean corpuscular volume (MCV) of 104.5 fL (mean: 78 fL) with normal white cell and platelet count. Serum electrolytes with liver and renal function tests were within normal limits. In view of macrocytic anemia, hyperpigmentation, exclusively breast milk feeding, and neuroregression, the possibility of Vitamin B12 deficiency with underlying maternal B12 deficiency was considered. Blood samples for Vitamin B12 and folate levels were sent, and she was started on intramuscular Vitamin B12 injection (methylcobalamin) as 500 μg stat dose followed by 100 μg once daily for 10 days. Investigations revealed severe Vitamin B12 deficiency with a level of <5 pmol/L (reference, 33.8–222.8 pmol/L) and normal folate level. Her mother was noted to have normal hemoglobin of 12.6 g% with MCV of 99 fL and low B12 level of 14.6 pmol/L. On the 11th day, the child was brought for review and noted to have dramatic improvement: she was active, playful, able to sit independently, and was babbling [Figure 2]. Her tone was normal and deep tendon reflexes were present. Her repeat hemoglobin was 10.6 g%, MCV was 87.7 fL, and serum Vitamin B12 level was >256 pmol/L. The child was advised to continue 500 μg injection Vitamin B12 weekly once for 4 weeks, followed by monthly for 3 months. Since her mother's Vitamin B12 level was also low, she was advised weekly Vitamin B12 injection of 500 μg for 4 weeks. Complementary feeding was also initiated and regular follow-up was emphasized. Pernicious anemia screen or magnetic resonance imaging brain could not be done due to financial constraints at this rural hospital setting. At 3-month follow-up, over telephonic conversation, she is doing well. She is able to walk with support, says monosyllables, and can identify few body parts. The family has been advised to come for a review.
|Figure 1: Patient at presentation - encephalopathic and hyperpigmented (photo taken after parental consent)|
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|Figure 2: One month after treatment - interactive child with normal sensorium and significantly reduced hyperpigmentation|
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| Discussion|| |
Vitamin B12 is a water-soluble vitamin and is important for hematopoiesis, central nervous system myelination, and psychomotor development. Deficiency of this vitamin among pregnant and breastfeeding women in low- and middle-income countries is highly prevalent and associated with preterm birth and neural tube defects. Maternal B12 deficiency is the most common reason for infantile B12 deficiency, which causes neurocognitive dysfunction in this age. Awareness among general practitioners and pediatricians remains poor, resulting in delayed diagnosis of this imminently treatable disorder.
If the maternal B12 level is low, exclusive breastfed babies can become deficient in Vitamin B12. Other causes include dietary deficiency, malabsorption, pernicious anemia, and inborn errors of B12 metabolism. During pregnancy, Vitamin B12 is concentrated in the fetus and stored in the liver. Vitamin B12 is not synthesized in the body and must be ingested through diet. Adult hepatic stores of 1–4 mg balance a Vitamin B12 deficient diet for several years. In contrast, infantile Vitamin B12 body stores comprise about 25 μg, which in turn is further lower if the breast fed infant has a B12 deficient mother. In addition, B12 levels in the breast milk of deficient mothers are lower than those of mothers with adequate B12 status (50–85 ng/L compared with the normal range of 180–300 ng/L). Hence, infants on predominant breast-feeding with deficient mothers can develop symptoms within few months after birth. Neurological symptoms are varied and typically appear by 4–10 months of age. In infancy, developmental delay and seizures predominate, although infantile tremors have also been described. Other common symptoms include hyperpigmentation, irritability, refusal to eat, and neuroregression. Megaloblastic anemia need not always be present among those neurologically affected.
Serum Vitamin B12 level of <200 pg/mL or <25 pmol/L is typically used to define B12 deficiency. Children having only hematologic presentation recover fully within 2–3 months, whereas children with neurologic disease need at least 6 months of therapy. Children with continuing malabsorptive state and those having inborn errors of Vitamin B12 malabsorption need lifelong treatment. Various B12 treatment regimens have been described in literature. Typically, IM injections of Vitamin B12 100–1000 μg are given daily for 5–10 days, followed by 100 μg to 1000 μg weekly for 4 weeks, and a maintenance therapy of 100–1000 μg every 1–3 months. Our child responded promptly to parenteral Vitamin B12 therapy within 2 weeks. Regular follow-up is essential as residual neurological deficits could be present. Our patient is doing well after 3 months of treatment initiation with good catchup on milestones. There are very few case reports of neuroregressive illness secondary to this treatable disorder from India.
| Conclusion|| |
This case highlights the need to suspect B12 deficiency and inborn errors of B12 metabolism in any young child presenting with neuroregression. Although inborn errors need to be ruled out, this case highlights that easily treatable nutritional B12 deficiency still exists in our community. Nutritional education and maternal B12 supplementation during pregnancy and lactation can prevent this treatable neurological disorder.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given their consent for the patient's images and other clinical information to be reported in the journal. The patient's parents understand that the patient's name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]