Neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder that causes progressive neurodegenerative disease as a result of storage in neurons and other cells.Late infantile type (NCL Type 2) of NCL, which is the most common neurodegenerative disease in childhood, is characterised by a homozygous mutation in the tripeptidyl peptidase-1 (TPP-1) gene.A male infant was referred to our neonatal intensive care unit (NICU) on 26th day of life with a diagnosis of metabolic disease.He was intubated.He was hypotonic and newborn reflexes were not present.Cranial magnetic resonance (MR) imaging revealed severe atrophy and delayed myelination of cerebellum and cerebral hemispheres.A novel homozygous pathological mutation was detected in exon 9 of the TPP-1 gene.With this case, it should be kept in mind that NCL may rarely start early in neonatal period and should be suspected in newborns with cerebral and cerebellar atrophy for early diagnosis.
Abstract Objective In 2020, in-line with the recommendations of the Turkish Neonatal Society, a new palivizumab indication was added for preterm infants with 290/7 to 316/7 weeks of gestational age. This study aimed to determine the risk factors of hospitalizations due to lower respiratory tract infections (LRTIs) and respiratory syncytial virus (RSV) in preterm infants (290/7–316/7 weeks of gestational age) who were or were not within the scope of palivizumab indication during the first two RSV seasons (2018–2019 and 2019–2020) and the next two RSV seasons (2020–2021 and 2021–2022) to evaluate the validity of the new indication of palivizumab reimbursement scope. Methods This study was a two-center retrospective and prospective cohort study and included all preterm infants (290/7–316/7 weeks) aged 90 days and younger during the RSV season (October–March). The primary outcome was to compare the hospitalization rates between patients who received palivizumab and those who did not. The secondary outcome was to identify the risk factors for patients hospitalized due to LRTIs. Results Of the 122 preterm infants included in the study, 48.3% (n = 59) were in the prophylaxis group (Group 1) and 51.7% (n = 63) were in the non-prophylaxis group (Group 2). It was noteworthy that 53.8% (n = 14) of the 26 infants hospitalized due to LRTIs were in Group 1 and 46.2% (n = 12) were in Group 2 (p = 0.682). Of the RSV PCR-positive infants, 62.5%(n = 5) were in Group 1 and 37.5% (n = 3) were in Group 2 (p = 0.30). The median length of hospitalization was similar in the groups (p = 0.123). Conclusion The indication for palivizumab prophylaxis can be determined more clearly for our country in light of national multicenter studies with an increased sample size.