The DIAPH1 gene fulfills critical immune and neurodevelopmental roles. It encodes the mammalian Diaphanous-related formin (mDia1) protein, which acts downstream of Rho GTPases to promote F-actin polymerization and stabilize microtubules. During mitosis, this protein is expressed in human neuronal precursor cells and considerably affects spindle formation and cell division. In humans, dominant gain-of-function DIAPH1 variants cause sensorineural deafness and macrothrombocytopenia (DFNA1), while homozygous DIAPH1 loss leads to seizures, cortical blindness, and microcephaly syndrome (SCBMS). To date, only 16 patients with SCBMS have been reported, none of whom were from Iran. Furthermore, aspergillosis is yet to be reported in patients with homozygous DIAPH1 loss, and the link between SCBMS and immunodeficiency remains elusive. In this study, we shed further light on this matter by reporting the clinical, genetic, and phenotypic characteristics of an Iranian boy with a long history of recurrent infections, diagnosed with SCBMS and immunodeficiency (NM_005219.5 c.3145C > T; p.R1049X variant) following aspergillosis and SARS-CoV-2 coinfection.

Multisystem inflammatory syndrome in children (MIS-C) caused a rare presentation of ataxia and papilledema; A case report

No abstract

Background: Multi-system inflammatory syndrome in children (MIS-C) is a newly defined clinical syndrome characterized by systemic inflammation, fever, and multi-organ dysfunction related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. While MIS-C is familiar to most physicians, recurrent and rebound cases of MIS-C are extremely rare, with only two such cases reported to date. Case presentation: Here, we report the case of a five-month-old boy diagnosed with rebound MIS-C (19 days apart), with the second episode being more severe and featuring a right coronary artery aneurysm. The immunodeficiency workup returned normal. Standard MIS-C treatment protocols were followed in both episodes, eventually yielding an excellent outcome. The patient remained well within 12 months of follow-up. Conclusions: We conclude that longer and closer follow-ups of MIS-C patients may be needed, perhaps with a more aggressive treatment protocol to prevent a rebound or recurrence of the disease, though further studies are required to guide clinical decision-making.