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[IMERSLUND-GRÄSBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA]
M Kvezereli-Kopadze1, Z Mtvarelidze1
1Tbilisi State Medical University, Department of Children and Adolescents; I. Tsitsishvili New Children Clinic, Tbilisi, Georgia.
Insights
This study presents a rare childhood case of Imerslund-Gräsbeck syndrome, a congenital vitamin B12 deficiency anemia. Early diagnosis and lifelong vitamin B12 treatment led to hematological remission, highlighting the importance of timely intervention for this rare condition.
Area of Science:
- Pediatric Hematology
- Nutritional Deficiencies
- Gastroenterology
Background:
- Megaloblastic anemias in children are rare, often linked to vitamin B12 deficiency.
- Vitamin B12 is crucial for normal red blood cell maturation.
- Congenital vitamin B12 deficiency, like Imerslund-Gräsbeck syndrome, presents unique diagnostic challenges.
Observation:
- A pediatric patient presented with symptoms suggestive of congenital vitamin B12 deficiency.
- The patient exhibited selective intestinal malabsorption of vitamin B12 and persistent proteinuria without renal disease.
- Diagnosis was established in early childhood based on clinical and paraclinical data.
Findings:
- Specific treatment with vitamin B12 injections resulted in complete clinical and hematological remission within two weeks.
- Lifelong monthly vitamin B12 injections are required for sustained remission.
- Eighteen-month follow-up showed sustained remission but persistent macrocytosis and mild proteinuria.
Implications:
- This case underscores the rarity of congenital vitamin B12 deficiency in childhood and the potential for misdiagnosis.
- Early diagnosis and consistent vitamin B12 supplementation are critical for favorable outcomes in Imerslund-Gräsbeck syndrome.
- Understanding this syndrome is vital for pediatricians to ensure appropriate management and prevent long-term complications.
Abstract:
Normal red blood cells maturation depends on many different hematological factors, including vitamin (vit.) B12. Megaloblastic anemias are basically caused by vit. B12 deficiency. In childhood the deficiency of this vitamin is extremely rare. The article captures findings of observation of the patient with rare form congenital vit. B12 deficiency anemia - Imerslund-Gräsbeck syndrome. The disease is characterized with selective intestinal malabsorption of vit. B12 and permanent proteinuria, without sings of kidney disease. The diagnosis was confirmed by our team in early childhood and based on the history, clinical and paraclinical data. After two weeks of specific treatment with vit. B12 , complete clinical - hematological remission was achieved. Treatment includes lifelong vit. B12 injections once per month. Cathamnesic observation for 18 months revealed that the patient is in remission, but there was continued macrocytosis of red blood cells and mild proteinuria. The presented case is interesting as a rare case of megaloblastic anemia caused by vit. B12 deficiency in childhood. Such patients often treated under different diagnosis. In such cases early diagnosis, treatment and prevention are crucial for the good prognosis.
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