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[Neurofibromatosis and cystic fibrosis: a case report]
T Rubio-González1, H Alvarez-Valiente
1Especialista 1er Grado Genética Clínica, Hospital Docente Infantil Sur, Santiago de Cuba, Cuba. dismer@cbm.uo.edu.cu
Insights
This case study highlights a patient with both neurofibromatosis and cystic fibrosis. Genetic testing confirmed the coincidence of these two distinct monogenic disorders.
Area of Science:
- Clinical Genetics
- Molecular Biology
- Pediatrics
Background:
- Neurofibromatosis is a genetic disorder characterized by café-au-lait spots.
- Cystic Fibrosis is a genetic disorder affecting the respiratory and digestive systems.
Observation:
- A patient presented with café-au-lait stains and persistent respiratory symptoms.
- The patient's mother also exhibited café-au-lait stains.
- Both mother and son had positive sweat tests, indicating potential cystic fibrosis.
Findings:
- Molecular analysis confirmed the patient was homozygous for the delta F508 mutation of cystic fibrosis.
- The patient's parents were identified as carriers of the delta F508 mutation.
- The clinical presentation suggested a co-occurrence of neurofibromatosis and cystic fibrosis.
Implications:
- This case underscores the importance of considering co-occurring genetic disorders in patients with complex symptoms.
- Accurate genetic diagnosis is crucial for appropriate management and genetic counseling.
- Understanding the coincidence of monogenic disorders aids in comprehending genetic interactions and disease presentation.
Introduction And Clinical Case:
We present the case of a patient attended in the Clinical Genetics Department of the Hospital Infantil Sur in Santiago de Cuba, who had 'café au lait' stains and persistent respiratory symptoms. 'Café au lait' stains were also found on the skin of the patient's mother, on clinical examination. No other members of the family were affected. Laboratory studies showed that both mother and son had positive sweat tests. PCR molecular study showed the patient to be homozygotic delta F508/delta F508 for the cystic fibrosis gene and both his parents to be delta F508 carriers.
Conclusion:
In this case there was a coincidence of two disorders of monogenic aetiology: neurofibromatosis and cystic fibrosis.