Ramsay Hunt syndrome (RHS) is characterized by facial paralysis, inner ear dysfunction, periauricular pain, and herpetiform vesicles. The reported incidence in children is 2.7/100,000. The pathogenesis involves the reactivation of latent varicella zoster virus (VZV) in the geniculate ganglion of the facial nerve. The recovery rate is better in children than in adults. This paper discusses a 12-year-old girl with a rare case of peripheral facial paralysis caused by RHS and reviews the literature.

<b><i>Objective:</i></b> Pathogenic mutations of the <i>TRAPPC9</i> gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and brain abnormalities in <i>TRAPPC9</i> mutations. <b><i>Methods:</i></b> We performed whole-exome sequencing to evaluate 2 Turkish siblings with ASD and ID born to healthy and consanguineous parents. Parental samples were also analyzed, specifically targeting variants detected in these patients. <b><i>Results:</i></b> We present a novel homozygous mutation in the <i>TRAPPC9</i> gene, c.484G&#x3e;T (p.Glu162Ter). Additionally, we aim to provide a more comprehensive understanding of the clinical features of a novel homozygous <i>TRAPPC9</i> mutation. In addition to ID, the siblings in this report suffered from ASD and specific stereotypes as hand-flapping behavior. <b><i>Conclusion:</i></b> Although there are inconsistencies in the presentation of ASD in <i>TRAPPC9</i> mutations, repetitive behaviors (hand-flapping ) were typical in our cases and several previous reports. The current mutation was described to cause a homozygous premature termination codon that resulted in the absence of the <i>TRAPPC9</i> protein. We suggest that <i>TRAPPC9</i> mutations are not only related to ID but also to ASD and hand-flapping behaviors.

With this easy to use scoring system, one can predict the neonate at risk for BPD at 72 hours of life and direct preventive measures toward these infants.

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Ocular and ophthalmologic adverse effects may occur in patients with β-thalassemia major (BTM) treated regularly with blood transfusions and iron-chelating agents. We hypothesized that olfactory dysfunction may be present in this patient population. We aimed to investigate olfactory dysfunction in patients with BTM and to determine etiologic factors. A total of 43 patients with BTM were included in the study. Forty-three subjects without nasal complaints, history of facial trauma, or nasal surgery were included as the controls. All participants had nasal endoscopy. The use of iron-chelating agents by patients with BTM and their duration of use were recorded, as well as hemoglobin and ferritin levels. The Sniffin' Sticks test (SST) was used to assess olfactory function, comparing results between the BTM and control groups. The correlations of SST scores with the other study parameters were analyzed. Eight (18.6%) of 43 patients in the BTM group and none of the subjects in the control group had hyposmia (p < 0.001). Older age, low hemoglobin level, and longer use of deferoxamine were found to be correlated with olfactory dysfunction. Olfactory dysfunction can occur in patients with BTM treated with iron-chelating agents. The results suggest that screening for olfactory function should be part of the routine follow-up of patients with BTM.