Newborn screening (NBS) for cystic fibrosis (CF) has been shown to be advantageous for children with CF, and has thus been included in most NBS programs using various algorithms. With this study, we intend to establish the most appropriate algorithm for CF-NBS in the Portuguese population, to determine the incidence, and to contribute to elucidating the genetic epidemiology of CF in Portugal. This was a nationwide three-year pilot study including 255,000 newborns (NB) that were also screened for congenital hypothyroidism (CH) and 24 other metabolic disorders included in the Portuguese screening program. Most samples were collected in local health centers spread all over the country, between the 3rd and 6th days of life. The algorithm tested includes immunoreactive trypsinogen (IRT) determination, pancreatitis associated protein (PAP) as a second tier, and genetic study for cases referred to specialized clinical centers. Thirty-four CF cases were confirmed positive, thus indicating an incidence of 1:7500 NB. The p.F508del mutation was found in 79% of the alleles. According to the results presented here, CF-NBS is recommended to be included in the Portuguese NBS panel with a small adjustment regarding the PAP cutoff , which we expect to contribute to the improvement of the CF-NBS performance. According to our results, this algorithm is a valuable alternative for CF-NBS in populations with stringent rules for genetic studies.

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A 4-year-old boy, previously healthy, had a 7-month history of a lesion on his face. He also had left-sided cervical adenopathy, with a diameter of 3.5 × 2.5 cm, which was not painful nor adherent to the overlying skin. Despite several courses of antibiotic therapy (erythromycin, amoxicillin-clavulanic acid, and cefaclor), there was no improvement. Surgical drainage of the lymphadenitis, undertaken after 14 days of illness, led to a chronic draining fistulous tract. Subsequently, he presented with 2 skin lesions, the largest being 2.5 × 2.5 cm (Figure). Tuberculin skin test was positive with an induration of 25 mm. Lymph node biopsy showed granulomatous inflammation and caseation necrosis. The exudate culture was positive for Mycobacterium tuberculosis. Radiography of the chest, computed tomography of the chest, and laboratory results were all normal. Serologic testing for the human immunodeficiency virus was negative. A 75-yearold relative with pulmonary tuberculosis was identified as the source of contagion, which had occurred approximately 6 weeks before clinical onset.Following completion of a 2-month course of isoniazid, rifampin, and pyrazinamide followed by isoniazid and rifampin for 4 months, there was a gradual improvement of all lesions. Five years later, the patient was noted to have only a residual scar of the tuberculous adenopathy.Scrofula, the popular name for cervical tuberculous lymphadenitis (CTA), is the most frequent presentation of extrapulmonary tuberculosis in childhood 1,2 but is rare in developed countries. 3 It seems to occur as a result of previous infection involving the Waldeyer ring. 1 Ulceration, fistula, or abscess formation are frequent complications of CTA. 1 Scrofula may cause a form of cutaneous tuberculosis called scrofuloderma, from contiguous spread of the infection, as seen in our case. 3,4 CTA and cutaneous tuberculosis often have delayed diagnosis, leading to serious morbidity. [2][3][4] Diagnosis is made through biopsy for histopathology examination with acid-fast bacilli smear and culture for Mycobacterium tuberculosis, which remains the gold standard. 1,4 Concurrent pulmonary tuberculosis must be excluded. 1,4 Incision of the adenopathy increases the risk for cutaneous fistulous tract. 2 Spontaneous healing, although possible, is rare and takes years to achieve. 3,4 Scrofula and scrofuloderma respond well to antimycobacterial regimens for tuberculosis and have a good prognosis. 4 ■

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