[Congenital neutropenia type IV: case report]

Area of Science:

• Genetics
• Hematology
• Pediatrics

Background:

• Severe congenital neutropenia (SCN) is a group of rare genetic disorders characterized by extremely low neutrophil counts.
• The most common cause of SCN is mutations in the elastase 2 gene (ELA2).
• Granulocyte colony-stimulating factor (G-CSF) is the primary treatment for SCN.

Observation:

• This report describes a patient with SCN presenting a distinctive phenotype.
• The phenotype included triangular facies, retromicrognathia, prominent lower limb venous patterns, atrial septal defect, and poor weight gain.
• Genetic analysis revealed a deficiency in glucose-6-phosphatase catalytic subunit 3 (G6PC3).

Findings:

• Mutations in G6PC3 are an infrequent cause of SCN, accounting for approximately 2% of cases.
• The patient's unique phenotype, combined with SCN, suggested a specific genetic etiology.
• Diagnosis of G6PC3 deficiency was confirmed through genetic testing.

Implications:

• Recognizing this specific phenotype associated with SCN is crucial for early diagnosis.
• Identifying G6PC3 deficiency in SCN patients allows for targeted genetic counseling and management.
• This case underscores the genetic heterogeneity of SCN and the importance of comprehensive diagnostic approaches.