Evaluation of newborn hearing screening results of infants with phenylketonuria.

OBJECTIVE: The purpose of this study is comparing the newborn hearing screening failure rate between phenylketonuria (PKU) infants and matched healthy control infants. PATIENTS AND METHODS: Between April 2021 and April 2023, data obtained from the national newborn hearing screening program were examined for patients who presented to the pediatric metabolism clinic of Konya City Hospital with a clinical and genetic diagnosis of PKU. A healthy control group, matched for age and gender, was established. The newborn hearing screening test results, demographic information, and pregnancy data of infants with PKU and the control group were compared to assess risk factors. RESULTS: In the initial screening test, 23 out of 73 PKU infants (31.5%) and 12 out of 73 infants in the control group (16.4%) failed the test (p = 0.033). Among the 23 PKU infants who did not pass the first test, 9 (35%) also failed the second test and were referred. In contrast, all 12 infants in the control group who did not pass the first test passed the second test. The failure rate in the second test was significantly higher in PKU infants compared to the control group (p = 0.003). It was observed that the maternal age of PKU infants who underwent the second test was significantly higher than that of the control group (p < 0.029). Diagnostic hearing test results were found to be normal in all nine PKU patients who failed the secondary screening test and were referred to a tertiary center. CONCLUSION: In our study, it was determined that infants with phenylketonuria (PKU) who did not have any risk factors for hearing loss failed the hearing screening test significantly more than healthy infants.

Uvula Abscess in a Newborn Infant.

Abscesses can be found in several places in the oral cavity, most commonly occurring in peritonsillar and periodontal regions. In this report, the authors described a uvula abscess in a 1-month-old term newborn who was brought to the pediatric outpatient clinic with the complaints of difficulty in sucking-swallowing and refusal to suck at the breast. To the best of the authors' knowledge this is the first report of a uvula abscess in the literature.

Approaches to subperiosteal orbital abscesses.

The purpose of this paper is to evaluate the epidemiology, clinical features, management and complications of subperiosteal orbital abscesses (SPOA)-a serious complication of rhinosinusitis. Retrospective data of 36 patients with SPOA secondary to acute rhinosinusitis from January 1998 to December 2011 were evaluated. Patients were analyzed in terms of age, gender, clinical features, CT findings, surgical procedures, microbiology, and complications. Twenty-three males and 13 females aged from 3 to 76 were evaluated. Nine patients-seven of which were under the age of 10-with small medial SPOA were treated only with medical management. Of the 13 with medial SPOA, transnasal endoscopic approach was performed for 10 and external approach for 3 to drain the abscess. As for the 12 patients with superior SPOA, 8 were treated via combined approach and 4 via external approach. The most common microorganisms were streptococci in children and anaerobes in adults. Total loss of vision developed in two adults with diabetes mellitus (DM). One patient with superior SPOA died due to frontal lobe abscess. Young children with small medial SPOA without significant ocular signs may successfully be managed medically. Surgical drainage is indicated for nonmedial abscesses, large medial abscesses with severe visual loss and with insufficient response to medical management. The risk of blindness from SPOA is higher in patients with DM.

An intratemporal facial nerve neuroma: a case report.

A forty-one-year-old man presented with right-sided progressive facial nerve paralysis of one year duration. Computed tomography of the temporal bone showed a soft tissue mass in relation with the tympanic segment of the facial nerve with destructive changes in the facial recess region. Magnetic resonance images before and after gadolinium injection revealed a contrast-enhancing mass lesion in the tympanic cavity. The tumor was removed through a transmastoid approach and a cable graft from the greater auricular nerve was used to repair the defect. Histopathologic diagnosis was facial nerve schwannoma. At the end of one-year follow-up, the patient had moderately severe facial nerve dysfunction.