Silva CY, Gil AM, Chaviano LM, Menéndez VA, Machín GS, Valdés CF

Language: Spanish
References: 12
Page: 1-7
PDF size: 232.02 Kb.

ABSTRACT

Introduction: Neurocutaneous syndromes comprise a heterogeneous set of hereditary disorders mainly affecting the skin and the central nervous system. Among the conditions included are neurofibromatosis, tuberous sclerosis and von Hippel-Lindau disease, characterized by dysplasia in various tissues and the formation of tumors in various organs. Increased relative risk has also been described for acute lymphoblastic leukemia, chronic myelomonocytic leukemia and non-Hodgkin lymphoma.
Objective: Describe the case of a patient diagnosed with neurocutaneous syndrome (tuberous sclerosis) who developed acute lymphoid leukemia at age six.
Clinical case: A case is presented of a female six-year-old patient with a history of neurocutaneous syndrome, tuberous sclerosis type, diagnosed at age two. The patient started with febrile syndrome, cervical adenopathies and hepatosplenomegaly. The blood count revealed anemia, severe thrombocytopenia and leukocytosis with the presence of blasts, whereas the medullogram showed 90% infiltration by lymphoid blasts, leading to the diagnosis of acute lymphoid leukemia.
Conclusions: Coexistence of neurocutaneous syndromes and acute lymphoid leukemia is not frequent. A case is described of a patient with both conditions who died despite the treatment indicated.

REFERENCES

1. Ullrich NJ. Neurocutaneous Syndromes and Brain Tumors. J Child Neurol. Oct 2016; 31(12):1399-411. DOI: https://10.1177/0883073815604220

2. Gürsoy S, Erçal D. Genetic Evaluation of Common Neurocutaneous Syndromes. Pediatr Neurol. Dec 2018;89:3-10. DOI: https://10.1016/j.pediatrneurol.2018.08.006

3. Cammarata-Scalisi F, Stock F, Velazco N, Da Silva G, Lacruz-Rengel MA, Avendano A. Hallazgos clínicos y epidemiológicos en la neurofibromatosis tipo 1 y el complejo esclerosis tuberosa en una serie de pacientes pediátricos. Bol Med Hosp Infant Mex. 2018;75(5):287-94. Spanish. DOI: https://10.24875/BMHIM.M18000035

4. Bloom M, Maciaszek JL, Clark ME, Pui CH, Nichols KE. Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia. Expert Rev Hematol. Jan 2020;13(1):55-70. DOI: https://10.1080/17474086.2020.1685866

5. Gómez Cerdas MT, Vargas Morales JA. Esclerosis tuberosa. Rev Méd Sinergia. Mar 2019; 4(3):21-37. DOI: https://https://doi.org/10.31434/rms.v4i3.182

6. Fernández Fernández MA, Morillo Rojas MD. Síndromes neurocutáneos. Pediatr Integral 2015;XIX(8):565-71.

7. Peltonen S, Kallionpää RA, Rantanen M, Uusitalo E, Lähteenmäki PM, Pöyhönen M, et al. Pediatric malignancies in neurofibromatosis type 1: A population-based cohort study. Int J Cancer. Dec 2019;145(11):2926-32. DOI: https://10.1002/ijc.32187

8. Galbiati M, Lettieri A, Micalizzi C, Songia S, Morerio C, Biondi A et al. Natural history of acute lymphoblastic leukemia in neurofibromatosis type 1 monozygotic twins. Leukemia. Aug 2013;27(8):1778-81. DOI: https://10.1038/leu.2013.55

9. Ríos SC, Mora HGA. Neurofibromatosis Tipo 1- Enfermedad de Von Recklinghausen-. Rev Med Cos Cen. 2014;71(610):249-52.

10. Gómez M, Batista O. Neurofibromatosis tipo 1 (NF1) y su diagnóstico molecular como estrategia del diagnóstico diferencial y a edades tempranas. Rev Med Chile. Oct 2015;143:1320-30. http://dx.doi.org/10.4067/S0034-98872015001000011

11. Simioni C,, Martelli AM, Zauli G, Melloni E, Neri LM. Targeting mTOR in Acute Lymphoblastic Leukemia. Cells. 2019 Feb;8(2):190. DOI: https://10.3390/cells8020190

12. Arnaout H, Gad Allah F, Khorshid O, Elsaadany Z, Fouad N, Amer M. TSC gene expression in the newly diagnosed Egyptian acute leukemia patients. Comparative Clin Pathol. Sept 2018; 27,(5):1199-1204.