[IMERSLUND-GRÄSBECK SYNDROME CONGENITAL FORM OF VITAMIN B12 DEFICIENCY ANEMIA]

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.