An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

The adaptor protein 4 (AP-4) constitutes a conserved hetero-tetrameric complex within the family of adaptor protein (AP) complex, crucial for the signal-mediated trafficking of integral membrane proteins. Mutations affecting all subunits of the AP-4 complex have been linked to autosomal-recessive cerebral palsy and a complex hereditary spastic paraparesis (HSP) phenotype. Our report details the case of a 14-year-old boy born to consanguineous parents, presenting psychomotor delay, severe intellectual disability, microcephaly, and trigonocephaly. Despite a history of febrile seizures, subsequent years were devoid of seizures, with normal EEG. Exome sequencing revealed pathogenic variants in both the AP4B1 and ERF genes. Significantly, the patient exhibited features associated with AP4B1 mutations, including distinctive traits such as cranial malformations. The ERF gene variant, linked to craniosynostosis, likely contributes to the observed trigonocephaly. This case represents the initial documentation of a concurrent mutation in the AP4B1 and ERF genes, underscoring the critical role of exome analysis in unraveling complex phenotypes. Understanding these complex genotypes offers valuable insights into broader syndromic conditions, facilitating comprehensive patient management.

Prospective Randomized Controlled Trial of Two Different Intramedullary Nails for Pertrochanteric Fractures of the Femur.

The purpose of this prospective randomized trial was to assess whether an intramedullary nail is superior or not to another one in the treatment of pertrochanteric fractures. Eighty-one patients with a 31-A1 or A2 Arbeitsgemeinschaft für Osteosynthesefragen/Orthopaedic Trauma Association (AO/OTA) pertrochanteric fracture were randomly allocated to fixation with either the Gamma® or the ENDOVIS® nail. In order to estimate the functional outcome the Parker-Palmer mobility score, Barthel Index, and EuroQol-5D (EQ-5D) were used. All patients were followed up at 1, 3, 6, and 12 months postoperatively. There was no statistical difference in Parker mobility score between groups. The statistical analysis revealed that there was no significant difference between the two patient groups as far as the operating time, the amount of blood transfused, and the latest functional outcome. Both kinds of intramedullary nails used in our study provide effective methods of treatment for intertrochanteric fractures in elderly patients. Our data showed slightly worse results for the ENDOVIS nail compared with the Gamma nail, but this did not reach a statistical significance.