Akademik Veri Yönetim Sistemi
16th European Paediatric Neurology Society Congress , Munich, Almanya, 8 - 12 Temmuz 2025, ss.356, (Özet Bildiri)
Objectives Pontocerebellar hypoplasias (PCHs) are a group of prenatal-onset neurodegenerative disorders that primarily affect the cerebellum and brainstem within the central nervous system. The TBC1D23 gene, which plays a critical role in intracellular endosomal vesicle trafficking, is a very rare cause of PCHs. This study presents a rare case of a patient with speech delay and gait instability diagnosed with pontocerebellar hypoplasia type 11 due to a homozygous mutation in the TBC1D23 gene. Methods This presentation is designed as a case report. Results A six-year-old male patient first presented to our clinic at the age of three years with complaints of speech delay, gait instability and frequent falls. Developmental delay was observed at all milestones. Apart from parental consanguinity, there were no other significant findings in the patient's medical history. Neurological examination revealed limited eye contact, restricted shared attention, microcephaly, dysmorphic facial features, ataxia and hyperactive deep tendon reflexes. Baseline biochemical and metabolic assessments were normal. Brain magnetic resonance imaging (MRI) revealed cerebellar hypoplasia and megacisterna magna. Genetic analysis, including karyotyping (46,XY), fragile X testing and chromosomal microarray (array-CGH), showed normal results. In addition, enzymatic assessments for neuronal ceroid lipofuscinosis (NCL) types 1 and 2 were unremarkable. Whole-exome sequencing identified a homozygous mutation c.1858C>T (p.Arg620*) in the TBC1D23 gene, confirming the diagnosis of pontocerebellar hypoplasia type 11. Conclusions PCHs are a group of disorders with a broad genotypic and phenotypic spectrum that may overlap with other clinical conditions. Therefore, they should be considered in the differential diagnosis of similar presentations and advanced genetic studies are recommended.