Dyskeratosis congenita is a rare hereditary disease. It mainly affects males and manifest between 5 years and 12 years. Its classic manifestation consists of skin pigmentary changes, nail dystrophy, oral leukoplakia, bone marrow failure and predisposition to malignany. We report the case of a 9-year-old boy who presented with hyperpigmentation of the skin, palms and soles, leukoplakia of the tongue, dystrophy of the nails, epiphoria and recurrent epistaxis with gum bleeding. Full blood count showed pancytopenia and bone marrow biopsy showed hypocellular marrow with no abnormal cells. He was transfused with pack red blood cells, platelets concentrate and was commenced on co-trimoxazole prophylaxis and anabolic steroid. He is currently on follow-up in the paediatric clinic.
Childhood malignancies have emerged as an important cause of morbidity and mortality globally. Diagnosis need to be accurate and fast to reduce this. Fine Needle Aspiration Cytology (FNAC) is an accepted modality employed in the diagnosis of adult and pediatric tumors. This study aims to review the pattern of pediatric FNAC from all sites done over a 10-year period, and its utility in the management of head and neck swellings. Records of all pediatric FNAC within the 10-year study period were retrospectively retrieved and analyzed. Data regarding age, sex, site of biopsy and FNAC diagnoses were extracted. Subsequent histologic diagnoses from the head and neck region were correlated with initial FNAC diagnoses from the same region. Data were presented in frequencies and percentages in tabular form. Accuracy, sensitivity, specificity, Positive Predictive Value (PPV) and Negative Predictive Value (NPV) of head and neck lesions were calculated. A total of 301 pediatric FNAC were recorded. There were 160 (53.8%) males and 141 (46.2%) females with a M: F ratio of 1.1:1. The average age was 7.2 ± 3.9 years. The highest frequency of 134 (44.5%) was seen in the 5-10 years age group. Benign cytological diagnoses were rendered in 243 (80.7%) while the remaining 58 (19.3%) were malignant. Of the total, 244 FNAC were from head and neck Swellings, 209(80.7%) were benign while the remaining were malignant. Sixty-two (62) cases of head and neck FNAC had subsequent histologic tissue diagnoses (considered the gold standard) which were compared with prior FNAC results. FNAC of the head and neck showed an accuracy 82.1%, sensitivity of 53.0%, specificity of 93.3%, PPV and NPV of 75.0% and 84.0% respectively. FNAC is an easy, fast, cheap and minimally invasive screening tool that is accurate for diagnosis in the management of pediatric head and neck swellings in our setting.
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